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Sample records for genetics home reference

  1. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  2. Genetics Home Reference: PURA syndrome

    Science.gov (United States)

    ... TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets ... article on PubMed Central More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  3. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  4. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  5. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  6. Genetics Home Reference: achondroplasia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Achondroplasia Achondroplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Achondroplasia is a form of short-limbed dwarfism. The ...

  7. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Phenylketonuria Phenylketonuria Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Phenylketonuria (commonly known as PKU) is an inherited disorder ...

  8. Genetics Home Reference: schizophrenia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Schizophrenia Schizophrenia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Schizophrenia is a brain disorder classified as a psychosis, ...

  9. Genetics Home Reference: depression

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Depression Depression Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Depression (also known as major depression or major depressive ...

  10. Genetics Home Reference: alkaptonuria

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Alkaptonuria Alkaptonuria Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alkaptonuria is an inherited condition that causes urine to ...

  11. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Preeclampsia Preeclampsia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Preeclampsia is a complication of pregnancy in which affected ...

  12. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  13. Genetics Home Reference: sialuria

    Science.gov (United States)

    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  14. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  15. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  16. Genetics Home Reference: citrullinemia

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. Learn more about the genes associated with citrullinemia ... GeneReview: Citrin Deficiency GeneReview: Citrullinemia Type I GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  17. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Some studies suggest that additional genetic changes can influence the development of retinoblastoma ; these changes may help explain variations ... usually occurs in childhood, typically leading to the development of ... and there is no family history of the disease. Affected individuals are born ...

  18. Genetics Home Reference: glutaric acidemia type I

    Science.gov (United States)

    ... Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ... 825-8. Review. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  19. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  20. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Hereditary pancreatitis Hereditary pancreatitis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hereditary pancreatitis is a genetic condition characterized by recurrent episodes ...

  1. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Rheumatoid arthritis Rheumatoid arthritis Printable PDF Open All Close All Enable ... in my area? Other Names for This Condition arthritis, rheumatoid RA Related Information How are genetic conditions and ...

  2. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  3. Genetics Home Reference: Kleefstra syndrome

    Science.gov (United States)

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...

  4. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  5. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  6. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  7. Genetics Home Reference: Kniest dysplasia

    Science.gov (United States)

    ... may include a rounded upper back that also curves to the side ( kyphoscoliosis ), severely flattened bones of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  8. Genetics Home Reference: Carpenter syndrome

    Science.gov (United States)

    ... deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: Czech dysplasia

    Science.gov (United States)

    ... such as a rounded upper back that also curves to the side ( kyphoscoliosis ). Some people with Czech ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Genetics Home Reference: Winchester syndrome

    Science.gov (United States)

    ... bones ( osteoporosis ) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  11. Genetics Home Reference: nonsyndromic hearing loss

    Science.gov (United States)

    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  12. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis . Recent studies have identified variations in dozens of genes that may be linked ...

  13. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Parkinson disease Parkinson disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Parkinson disease is a progressive disorder of the nervous ...

  14. Genetics Home Reference: Cole disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Cole disease Cole disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cole disease is a disorder that affects the skin. People ...

  15. Genetics Home Reference: lung cancer

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Lung cancer Lung cancer Printable PDF Open All Close All Enable Javascript ... cancer, childhood Additional NIH Resources (3 links) National Cancer Institute: Lung Cancer Overview National Cancer Institute: Lung Cancer Prevention ...

  16. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  17. Genetics Home Reference: bipolar disorder

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bipolar disorder Bipolar disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bipolar disorder is a mental health condition that causes extreme ...

  18. Genetics Home Reference: clopidogrel resistance

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Clopidogrel resistance Clopidogrel resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Clopidogrel resistance is a condition in which the drug clopidogrel ...

  19. Genetics Home Reference: familial candidiasis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Familial candidiasis Familial candidiasis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial candidiasis is an inherited tendency to develop infections caused ...

  20. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  1. Genetics Home Reference: essential tremor

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Essential tremor Essential tremor Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Essential tremor is a movement disorder that causes involuntary, rhythmic ...

  2. Genetics Home Reference: gestational diabetes

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Gestational diabetes Gestational diabetes Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Gestational diabetes is a disorder characterized by abnormally high blood ...

  3. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Beta thalassemia Beta thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Beta thalassemia is a blood disorder that reduces the production ...

  4. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Alpha thalassemia Alpha thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alpha thalassemia is a blood disorder that reduces the production ...

  5. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  6. Genetics Home Reference: opioid addiction

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Opioid addiction Opioid addiction Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Opioid addiction is a long-lasting (chronic) disease that can ...

  7. Genetics Home Reference: systemic scleroderma

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Systemic scleroderma Systemic scleroderma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic scleroderma is an autoimmune disorder that affects the skin ...

  8. Genetics Home Reference: polycythemia vera

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Polycythemia vera Polycythemia vera Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Polycythemia vera is a condition characterized by an increased ...

  9. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  10. Genetics Home Reference: Alzheimer disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Alzheimer disease Alzheimer disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alzheimer disease is a degenerative disease of the brain ...

  11. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... increase the risk of myasthenia gravis , but the identity of these genes is unknown. Many factors likely ... Myasthenia Gravis Fact Sheet MalaCards: myasthenia gravis Merck Manual Home Health Handbook for Patients and Caregivers Myasthenia ...

  12. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  13. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Breast cancer Breast cancer Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Breast cancer is a disease in which certain cells in ...

  14. Genetics Home Reference: Norrie disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Norrie disease Norrie disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Norrie disease is an inherited eye disorder that leads to ...

  15. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  16. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hashimoto thyroiditis is a condition that affects the function of ...

  17. Genetics Home Reference: warfarin sensitivity

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Warfarin sensitivity Warfarin sensitivity Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Warfarin sensitivity is a condition in which individuals have ...

  18. Genetics Home Reference: warfarin resistance

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Warfarin resistance Warfarin resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Warfarin resistance is a condition in which individuals have ...

  19. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Amelogenesis imperfecta Amelogenesis imperfecta Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Amelogenesis imperfecta is a disorder of tooth development. This ...

  20. Genetics Home Reference: Graves disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Graves disease Graves disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Graves disease is a condition that affects the function of ...

  1. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  2. Genetics Home Reference: ADNP syndrome

    Science.gov (United States)

    ... if a disorder seems to run in my family? What is the prognosis of a genetic condition? Genetic and ... It is estimated to account for 0.17 percent of all cases of autism spectrum disorder, making it one of the most common ...

  3. Genetics Home Reference: Gaucher disease

    Science.gov (United States)

    ... 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  4. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  5. Genetics Home Reference: Tietz syndrome

    Science.gov (United States)

    ... represent a severe form of a disorder called Waardenburg syndrome , which can also be caused by MITF gene ... MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5): ...

  6. Genetics Home Reference: fumarase deficiency

    Science.gov (United States)

    ... V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350- ...

  7. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Consumer Version The University of Chicago Medicine World ...

  8. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... Resources (5 links) Disease InfoSearch: Williams syndrome Genetic Science Learning Center, University of Utah MalaCards: williams-beuren ...

  9. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  10. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  11. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... 3. Citation on PubMed Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  12. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  13. Genetics Home Reference: Muenke syndrome

    Science.gov (United States)

    ... Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome ( ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  14. Genetics Home Reference: Renpenning syndrome

    Science.gov (United States)

    ... 21. Citation on PubMed Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  15. Genetics Home Reference: spondylothoracic dysostosis

    Science.gov (United States)

    ... normal-length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities, which are present ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Dwarfism Health Topic: Spine Injuries and Disorders Genetic and ...

  16. Genetics Home Reference: geleophysic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition geleophysic dwarfism Related Information How are genetic conditions and genes ... and Rare Diseases Information Center (1 link) Geleophysic dwarfism Educational Resources (8 links) American Heart Association: Atrial ...

  17. Genetics Home Reference: Danon disease

    Science.gov (United States)

    ... are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays ... Page Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011 Jun;13( ...

  18. Genetics Home Reference: Miller syndrome

    Science.gov (United States)

    ... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  19. Genetics Home Reference: essential thrombocythemia

    Science.gov (United States)

    ... splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. ... deficiency Depression Pelizaeus-Merzbacher-like disease type 1 All New & ...

  20. Genetics Home Reference: Stormorken syndrome

    Science.gov (United States)

    ... ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). Related Information What does it mean if a ... new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5): ...

  1. Genetics Home Reference: Joubert syndrome

    Science.gov (United States)

    ... such as Ashkenazi Jewish, French-Canadian, and Hutterite populations. Related Information What information about a genetic condition ... of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. ...

  2. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  3. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1; ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  4. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  5. Genetics Home Reference: familial erythrocytosis

    Science.gov (United States)

    ... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

  6. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  7. Genetics Home Reference: Schindler disease

    Science.gov (United States)

    ... childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  8. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... links) Baby's First Test GeneReview: Arginase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  9. Genetics Home Reference: Lynch syndrome

    Science.gov (United States)

    ... Genetic Changes Variations in the MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM gene increase the risk of developing Lynch syndrome . The MLH1 , MSH2 , MSH6 , and PMS2 genes are involved in the repair of errors ...

  10. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  11. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  12. Genetics Home Reference: Griscelli syndrome

    Science.gov (United States)

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  13. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  14. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... 15;93(6):801-3. Citation on PubMed Hall HE, Chan ER, Collins A, Judis L, Shirley S, ... CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? ...

  15. Genetics Home Reference: alcohol use disorder

    Science.gov (United States)

    ... use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others ... Available from http://www.ncbi.nlm.nih.gov/books/NBK424857/ Citation on PubMed Zhu EC, Soundy TJ, ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  16. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... Support and Research Foundation: Genetic Changes Found in Cushing's Disease, Adrenal Tumors, and Adrenal Hyperplasia MalaCards: acth-independent ... macronodular adrenal hyperplasia 2 Merck Manual (Home Edition): Cushing ... Adrenal Diseases Foundation: Cushing's Syndrome Orphanet: Cushing syndrome due to ...

  17. Genetics Home Reference: fragile X syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Fragile X syndrome Fragile X syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Fragile X syndrome is a genetic condition that causes a ...

  18. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  19. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  20. Genetics Home Reference: X-linked acrogigantism

    Science.gov (United States)

    ... that is caused by pituitary gland abnormalities (pituitary gigantism). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  1. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  2. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  3. Genetics Home Reference: progressive external ophthalmoplegia

    Science.gov (United States)

    ... and can affect both males and females, but fathers do not pass traits associated with changes in ... Genetic Testing (4 links) Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ...

  4. Genetics Home Reference: neurofibromatosis type 1

    Science.gov (United States)

    ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6): ...

  5. Genetics Home Reference: arterial tortuosity syndrome

    Science.gov (United States)

    ... arteries are fixed, the extra length twists and curves. Other blood vessel abnormalities that may occur in ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  6. Genetics Home Reference: 3-M syndrome

    Science.gov (United States)

    ... such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  7. Genetics Home Reference: congenital contractural arachnodactyly

    Science.gov (United States)

    ... underdeveloped muscles, a rounded upper back that also curves to the side ( kyphoscoliosis ), permanently bent fingers and ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  8. Genetics Home Reference: spondylocarpotarsal synostosis syndrome

    Science.gov (United States)

    ... curved lower back ( lordosis ) and a spine that curves to the side ( scoliosis ). People with spondylocarpotarsal synostosis ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: Freeman-Sheldon syndrome

    Science.gov (United States)

    ... Affected individuals may also have a spine that curves to the side ( scoliosis ). People with Freeman-Sheldon ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Genetics Home Reference: juvenile primary osteoporosis

    Science.gov (United States)

    ... bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  11. Genetics Home Reference: lysinuric protein intolerance

    Science.gov (United States)

    ... stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture ( osteoporosis ). A lung ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  12. Genetics Home Reference: complement component 8 deficiency

    Science.gov (United States)

    ... in people with Hispanic, Japanese, or African Caribbean heritage, whereas type II primarily occurs in people of Northern European descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  13. Genetics Home Reference: Adams-Oliver syndrome

    Science.gov (United States)

    ... Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul ... Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. Citation ... Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub ...

  14. Genetics Home Reference: thrombotic thrombocytopenic purpura

    Science.gov (United States)

    ... Home Health Conditions Thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots ( ...

  15. Genetics Home Reference: autism spectrum disorder

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions ASD Autism spectrum disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Autism spectrum disorder ( ASD ) is a condition that appears very early ...

  16. Genetics Home Reference: factor VII deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Factor VII deficiency Factor VII deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Factor VII deficiency is a rare bleeding disorder that varies ...

  17. Genetics Home Reference: systemic lupus erythematosus

    Science.gov (United States)

    ... Twitter Home Health Conditions Systemic lupus erythematosus Systemic lupus erythematosus Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation ...

  18. Genetics Home Reference: white sponge nevus

    Science.gov (United States)

    ... Twitter Home Health Conditions White sponge nevus White sponge nevus Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description White sponge nevus is a condition characterized by the formation ...

  19. Genetics Home Reference: Dandy-Walker malformation

    Science.gov (United States)

    ... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

  20. Genetics Home Reference: SOX2 anophthalmia syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions SOX2 anophthalmia syndrome SOX2 anophthalmia syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal ...

  1. Genetics Home Reference: pyridoxine-dependent epilepsy

    Science.gov (United States)

    ... Home Health Conditions Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  2. Genetics Home Reference: familial atrial fibrillation

    Science.gov (United States)

    ... Twitter Home Health Conditions Familial atrial fibrillation Familial atrial fibrillation Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial atrial fibrillation is an inherited abnormality of the heart's normal ...

  3. Genetics Home Reference: CDKL5 deficiency disorder

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDKL5 deficiency disorder CDKL5 deficiency disorder Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description CDKL5 deficiency disorder is characterized by seizures that begin ...

  4. Genetics Home Reference: UV-sensitive syndrome

    Science.gov (United States)

    ... rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can ... Resources (2 links) Merck Manual Home Health Edition: Sunburn World Health Organization: Sun Protection General Information from ...

  5. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Twitter Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ...

  6. Genetics Home Reference: adolescent idiopathic scoliosis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Adolescent idiopathic scoliosis Adolescent idiopathic scoliosis Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

  7. Genetics Home Reference: primary spontaneous pneumothorax

    Science.gov (United States)

    ... Home Health Conditions Primary spontaneous pneumothorax Primary spontaneous pneumothorax Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Primary spontaneous pneumothorax is an abnormal accumulation of air in the ...

  8. Genetics Home Reference: generalized pustular psoriasis

    Science.gov (United States)

    ... Home Health Conditions Generalized pustular psoriasis Generalized pustular psoriasis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Generalized pustular psoriasis (GPP) is a severe form of a skin ...

  9. Genetics Home Reference: erythrokeratodermia variabilis et progressiva

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions EKVP Erythrokeratodermia variabilis et progressiva Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Erythrokeratodermia variabilis et progressiva ( EKVP ) is a skin disorder that is ...

  10. Genetics Home Reference: sporadic hemiplegic migraine

    Science.gov (United States)

    ... Home Health Conditions Sporadic hemiplegic migraine Sporadic hemiplegic migraine Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ...

  11. Genetics Home Reference: Coffin-Siris syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Coffin-Siris syndrome Coffin-Siris syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Coffin-Siris syndrome is a condition that affects several body ...

  12. Genetics Home Reference: tyrosine hydroxylase deficiency

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions TH deficiency Tyrosine hydroxylase deficiency Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Tyrosine hydroxylase (TH) deficiency is a disorder that primarily ...

  13. Genetics Home Reference: Diamond-Blackfan anemia

    Science.gov (United States)

    ... Home Health Conditions Diamond-Blackfan anemia Diamond-Blackfan anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Diamond-Blackfan anemia is a disorder of the bone marrow . The ...

  14. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  15. Genetics Home Reference: pulmonary arterial hypertension

    Science.gov (United States)

    ... Home Health Conditions Pulmonary arterial hypertension Pulmonary arterial hypertension Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high ...

  16. Genetics Home Reference: acral peeling skin syndrome

    Science.gov (United States)

    ... Home Health Conditions Acral peeling skin syndrome Acral peeling skin syndrome Printable PDF Open All Close All ... to view the expand/collapse boxes. Description Acral peeling skin syndrome is a skin disorder characterized by ...

  17. Genetics Home Reference: Chanarin-Dorfman syndrome

    Science.gov (United States)

    ... disease with ichthyosis Triglyceride storage disease with ichthyosis triglyceride storage disease with impaired long-chain fatty acid ... Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  18. Genetics Home Reference: rhabdoid tumor predisposition syndrome

    Science.gov (United States)

    ... rare type of ovarian cancer called small cell cancer of the ovary hypercalcemic type (SCCOHT). Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? Genetic ... Cancer Institute: Childhood Central Nervous System Atypical Teratoid/Rhabdoid ...

  19. Genetics Home Reference: adenosine deaminase deficiency

    Science.gov (United States)

    ... Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia (PDF) Genetic Testing (1 link) Genetic Testing Registry: Severe ... Diseases Immune Deficiency Foundation Jeffrey Modell Foundation National Organization for Rare ... OMIM (1 link) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE ...

  20. Genetics Home Reference: Amish lethal microcephaly

    Science.gov (United States)

    ... 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population. Related Information What information about a genetic condition can statistics provide? Why are some genetic ... gene cause Amish lethal microcephaly . The SLC25A19 gene provides instructions for ...

  1. Genetics Home Reference: epilepsy-aphasia spectrum

    Science.gov (United States)

    ... Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45( ... Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45( ...

  2. Genetics Home Reference: Jackson-Weiss syndrome

    Science.gov (United States)

    ... Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. Erratum in: Nat Genet 1995 Apr;9(4):451. Citation on PubMed Robin ...

  3. Genetics Home Reference: van der Woude syndrome

    Science.gov (United States)

    ... What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome ...

  4. Genetics Home Reference: Paget disease of bone

    Science.gov (United States)

    ... is most common in people of western European heritage. Early-onset Paget disease of bone is much rarer. This form of the disorder has been reported in only a few families. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  5. Genetics Home Reference: Ehlers-Danlos syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Ehlers-Danlos syndrome Ehlers-Danlos syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ehlers-Danlos syndrome is a group of disorders that affect connective ...

  6. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  7. Genetics Home Reference: spastic paraplegia type 8

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  8. Genetics Home Reference: spastic paraplegia type 31

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  9. Genetics Home Reference: chylomicron retention disease

    Science.gov (United States)

    ... reflexes (hyporeflexia) and a decreased ability to feel vibrations. Related Information What does it mean if a ... Encyclopedia: Malabsorption General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  10. Genetics Home Reference: ornithine translocase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... First Test GeneReview: Hyperornithinemia-Hyperammonemia-Homocitrullinuria ... Encyclopedia: Hereditary urea cycle abnormality National ...

  11. Genetics Home Reference: optic atrophy type 1

    Science.gov (United States)

    ... Nerve Atrophy Encyclopedia: Visual Acuity Test Health Topic: Color Blindness Health Topic: Optic Nerve Disorders Genetic and Rare ... Disease InfoSearch: Optic atrophy 1 Kids Health: What's Color Blindness? MalaCards: autosomal dominant optic atrophy, classic form Merck ...

  12. Genetics Home Reference: aromatase excess syndrome

    Science.gov (United States)

    ... in females can cause symptoms such as irregular menstrual periods and short stature. Learn more ... pattern, which means a genetic rearrangement involving one copy of the CYP19A1 gene in each cell is ...

  13. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... my area? Other Names for This Condition CPHD panhypopituitarism Related Information How are genetic conditions and genes ... Mody S, Brown MR, Parks JS. The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin ...

  14. Genetics Home Reference: tetrasomy 18p

    Science.gov (United States)

    ... The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from ... usually the mother. Most affected individuals have no history of the disorder in their family. However, rare ...

  15. Genetics Home Reference: Pallister-Hall syndrome

    Science.gov (United States)

    ... Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  16. Genetics Home Reference: 2-hydroxyglutaric aciduria

    Science.gov (United States)

    ... Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  17. Genetics Home Reference: Potocki-Shaffer syndrome

    Science.gov (United States)

    ... PubMed Central Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  18. Genetics Home Reference: Mowat-Wilson syndrome

    Science.gov (United States)

    ... E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  19. Genetics Home Reference: Greig cephalopolysyndactyly syndrome

    Science.gov (United States)

    ... Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  20. Genetics Home Reference: lymphedema-distichiasis syndrome

    Science.gov (United States)

    ... G, Jones MC, Kerstjens-Frederikse WS, Lidral AC, McDonald M, Nelson CC, Witte M, Glover TW. Clinical ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  1. Genetics Home Reference: popliteal pterygium syndrome

    Science.gov (United States)

    ... E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  2. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  3. Genetics Home Reference: spastic paraplegia type 7

    Science.gov (United States)

    ... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. ...

  4. Genetics Home Reference: autosomal recessive primary microcephaly

    Science.gov (United States)

    ... microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76( ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  5. Genetics Home Reference: Pelizaeus-Merzbacher disease

    Science.gov (United States)

    ... condition worsens, affected children develop spasticity leading to joint deformities (contractures) that restrict movement. Individuals with connatal ... Topic: Leukodystrophies Health Topic: Neurologic Diseases Health Topic: Neuromuscular Disorders Genetic and Rare Diseases Information Center (1 ...

  6. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... 42. Citation on PubMed Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous Sclerosis Complex. 1999 Jul ... Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007 Aug;57(2): ...

  7. Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

    Science.gov (United States)

    ... slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  8. Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

    Science.gov (United States)

    ... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  9. Genetics Home Reference: benign essential blepharospasm

    Science.gov (United States)

    ... eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms ... find a genetics professional in my area? Other Names for This Condition essential blepharospasm eyelid twitching primary ...

  10. Genetics Home Reference: paroxysmal extreme pain disorder

    Science.gov (United States)

    ... include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy ... find a genetics professional in my area? Other Names for This Condition familial rectal pain PEPD PEXPD ...

  11. Genetics Home Reference: isolated ectopia lentis

    Science.gov (United States)

    ... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . Enlarge Frequency The prevalence ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...

  12. Genetics Home Reference: 17q12 duplication

    Science.gov (United States)

    ... J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz ... genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006 Sep;38(9):1038- ...

  13. Genetics Home Reference: caudal regression syndrome

    Science.gov (United States)

    ... umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007 Dec ... AK, Dickinson JE, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am ...

  14. Genetics Home Reference: Russell-Silver syndrome

    Science.gov (United States)

    ... Other Names for This Condition RSS Silver-Russell dwarfism Silver-Russell syndrome SRS Related Information How are ... M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis of Silver-Russell syndrome. Expert Rev Mol Diagn. ...

  15. Genetics Home Reference: familial dilated cardiomyopathy

    Science.gov (United States)

    ... Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013 Sep;10(9):531- ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  16. Genetics Home Reference: GABA-transaminase deficiency

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    ... Description GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy. Babies with this disorder ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  17. Genetics Home Reference: triple X syndrome

    Science.gov (United States)

    ... chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism. Learn ... cells contributes to the genetic makeup of a child, the child will have an extra X chromosome ...

  18. Genetics Home Reference: 47,XYY syndrome

    Science.gov (United States)

    ... chromosome in only some of their cells. This phenomenon is called 46,XY/47,XYY mosaicism . Learn ... cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome ...

  19. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  20. Genetics Home Reference: carnitine palmitoyltransferase I deficiency

    Science.gov (United States)

    ... may be more common in the Hutterite and Inuit populations. Related Information What information about a genetic ... palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A- ...

  1. Genetics Home Reference: isolated sulfite oxidase deficiency

    Science.gov (United States)

    ... and Management Resources (1 link) GeneReview: Isolated Sulfite Oxidase Deficiency General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  2. Genetics Home Reference: branchiootorenal/branchiootic syndrome

    Science.gov (United States)

    ... branchiootorenal spectrum disorders). "Branchio-" refers to the second branchial arch, which is a structure in the developing ... BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses ...

  3. Genetics Home Reference: autosomal dominant hypocalcemia

    Science.gov (United States)

    ... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two ...

  4. Genetics Home Reference: ornithine transcarbamylase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Baby's First Test GeneReview: Ornithine Transcarbamylase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  5. Genetics Home Reference: chronic myeloid leukemia

    Science.gov (United States)

    ... Central Quintás-Cardama A, Cortes JE. Chronic myeloid leukemia: diagnosis and treatment. Mayo Clin Proc. 2006 Jul;81(7):973-88. Review. Citation on PubMed Skorski T. Genetic mechanisms of chronic myeloid leukemia blastic transformation. Curr Hematol Malig Rep. 2012 Jun; ...

  6. Genetics Home Reference: autoimmune Addison disease

    Science.gov (United States)

    ... common in particular ethnic groups? Genetic Changes The cause of autoimmune Addison disease is complex and not completely understood. A combination ... is not caused by an autoimmune reaction. Other causes include infections that ... adrenal glands. Addison disease can also be one of several features of ...

  7. Genetics Home Reference: Andersen-Tawil syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ). The signs and symptoms of Andersen-Tawil syndrome ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... from the Nemours Foundation: Arrhythmias Merck Manual Consumer Version: Long QT Syndrome and Torsades de ...

  8. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

    ... correlations with genotypes, gene therapy trials update, and future directions. J AAPOS. 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. Review. Citation on PubMed Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol ...

  9. Genetics Home Reference: aldosterone-producing adenoma

    Science.gov (United States)

    ... Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. ... 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. ... Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Citation on PubMed or ...

  10. Genetics Home Reference: ring chromosome 14 syndrome

    Science.gov (United States)

    ... be something about the ring structure itself that causes epilepsy. Seizures may occur because certain genes on the ... mapping of telomeric 14q32 deletions: search for the cause of seizures. Am J Med Genet A. ... L, Elia M, Vigevano F. Epilepsy in ring 14 chromosome syndrome. Epilepsy Behav. 2012 ...

  11. Genetics Home Reference: rhizomelic chondrodysplasia punctata

    Science.gov (United States)

    ... 1: report of mutations in 3 children from India. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. Citation on PubMed Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim ...

  12. Genetics Home Reference: spinocerebellar ataxia type 2

    Science.gov (United States)

    ... Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz ... Falcón NS, Góngora EM, Almarales DC, Pérez LV, Herrera MP. Age-dependent risks in genetic counseling for ...

  13. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

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    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  14. Genetics Home Reference: spastic paraplegia type 3A

    Science.gov (United States)

    ... bladder control, an abnormal curvature of the spine ( scoliosis ), loss of sensation in the feet (peripheral neuropathy), ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Home Edition National Health Service (UK) Orphanet: Hereditary ...

  15. Genetics Home Reference: Sjögren-Larsson syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Sjögren-Larsson syndrome Sjögren-Larsson syndrome Printable PDF Open All Close All ... FALDH deficiency fatty aldehyde dehydrogenase deficiency ichthyosis oligophrenia syndrome Sjogren-Larsson syndrome SLS Related Information How are genetic ...

  16. Genetics Home Reference: Stevens-Johnson syndrome/toxic epidermal necrolysis

    Science.gov (United States)

    ... Hung SI. Recent advances in the genetics and immunology of Stevens-Johnson syndrome and toxic epidermal necrosis. ... 2012 May 29. Citation on PubMed or Free article on PubMed Central More from Genetics Home Reference ...

  17. Genetics Home Reference: non-alcoholic fatty liver disease

    Science.gov (United States)

    ... individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to ... Resources Genetic Testing (2 links) Genetic Testing Registry: Fatty liver disease, nonalcoholic 1 Genetic Testing Registry: Fatty liver ...

  18. Genetics Home Reference: esophageal atresia/tracheoesophageal fistula

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    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. ...

  19. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  20. Genetics Home Reference: ZAP70-related severe combined immunodeficiency

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    ... gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct ... genetic testing? How can I find a genetics professional in my area? Other Names for This Condition ...

  1. Genetics Home Reference: DNMT3A overgrowth syndrome

    Science.gov (United States)

    ... symptoms, including a rounded upper back that also curves to the side ( kyphoscoliosis ), heart defects, flat feet ( ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  2. Genetics Home Reference: Marinesco-Sjögren syndrome

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    ... abnormalities including short stature and a spine that curves to the side ( scoliosis ). Other features of Marinesco- ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  3. Genetics Home Reference: activated PI3K-delta syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Immunodeficiency 14 Other Diagnosis and Management Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking to Your Doctor ...

  4. Genetics Home Reference: multicentric osteolysis, nodulosis, and arthropathy

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    ... bones ( osteoporosis ) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  5. Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa

    Science.gov (United States)

    ... Twitter Home Health Conditions NARP Neuropathy, ataxia, and retinitis pigmentosa Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that causes a variety ...

  6. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

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    ... in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of ... Home Edition for Patients and Caregivers: Dilated Cardiomyopathy Neuromuscular Disease Center, Washington University Orphanet: Early-onset myopathy ...

  7. Genetics Home Reference: carnitine-acylcarnitine translocase deficiency

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    ... Email Facebook Twitter Home Health Conditions CACT deficiency Carnitine-acylcarnitine translocase deficiency Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that ...

  8. Genetics Home Reference: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

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    ... Facebook Twitter Home Health Conditions APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Printable PDF Open All Close All ... view the expand/collapse boxes. Description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ( APECED ) is an inherited condition that ...

  9. Genetics Home Reference: myostatin-related muscle hypertrophy

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    ... Twitter Home Health Conditions Myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Myostatin-related muscle hypertrophy is a rare condition characterized ...

  10. Genetics Home Reference: Smith-Lemli-Opitz syndrome

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    ... Twitter Home Health Conditions Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Smith-Lemli-Opitz syndrome is a developmental disorder that ...

  11. Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

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    ... Home Health Conditions FENIB Familial encephalopathy with neuroserpin inclusion bodies Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

  12. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

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    ... Home Edition for Patients and Caregivers: Long QT Syndrome and Torsades de Pointes Ventricular Tachycardia Orphanet: Familial long QT syndrome Orphanet: Jervell and Lange-Nielsen syndrome Patient Support ...

  13. Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

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    ... Home Health Conditions HLRCC Hereditary leiomyomatosis and renal cell cancer Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary leiomyomatosis and renal cell cancer ( HLRCC ) is a disorder in which affected individuals ...

  14. Genetics Home Reference: glycogen storage disease type VII

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    ... Home Health Conditions Glycogen storage disease type VII Glycogen storage disease type VII Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type VII (GSDVII) is an inherited ...

  15. Genetics Home Reference: glycogen storage disease type IV

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    ... Home Health Conditions Glycogen storage disease type IV Glycogen storage disease type IV Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type IV (GSD IV) is an ...

  16. Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome

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    ... Twitter Home Health Conditions Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ...

  17. Genetics Home Reference: fragile X-associated primary ovarian insufficiency

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    ... Share: Email Facebook Twitter Home Health Conditions FXPOI Fragile X-associated primary ovarian insufficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated primary ovarian insufficiency ( FXPOI ) is a condition ...

  18. Genetics Home Reference: PDGFRA-associated chronic eosinophilic leukemia

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    ... link) Genetic Testing Registry: Idiopathic hypereosinophilic syndrome Other Diagnosis and Management Resources (3 links) Cancer.Net: Leukemia - Eosinophilic: Treatment MedlinePlus Encyclopedia: Eosinophil Count - Absolute Seattle ...

  19. Genetics Home Reference: 22q13.3 deletion syndrome

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    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q ... L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of ...

  20. Genetics Home Reference: GM2-gangliosidosis, AB variant

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    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

  1. Genetics Home Reference: Mayer-Rokitansky-Küster-Hauser syndrome

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    ... Home Health Conditions Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder ...

  2. Genetics Home Reference: 16p11.2 duplication

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    ... if a disorder seems to run in my family? What are the different ways in which a genetic condition can be ... Children's Hospital: Autism Spectrum Disorders National Institute on Deafness and Other Communication ...

  3. Genetics Home Reference: SYNGAP1-related intellectual disability

    Science.gov (United States)

    ... intellectual disability develops epilepsy, and about half have autism spectrum disorder . Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  4. Genetics Home Reference: congenital bile acid synthesis defect type 1

    Science.gov (United States)

    ... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

  5. Genetics Home Reference: lattice corneal dystrophy type II

    Science.gov (United States)

    ... leading to muscle weakness, clumsiness, and difficulty sensing vibrations. The skin is also commonly affected in people ... Lamp Examination General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  6. Genetics Home Reference: Léri-Weill dyschondrosteosis

    Science.gov (United States)

    ... for This Condition DCO dyschondrosteosis Leri-Weill dyschondrosteosis LWD Related Information How are genetic conditions and genes ... of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol ...

  7. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

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    ... Testing (1 link) Genetic Testing Registry: Acute myeloid leukemia Other Diagnosis and Management Resources (3 links) Fred Hutchinson Cancer Research Center National Cancer Institute: Acute Myeloid Leukemia Treatment St. Jude Children's Research Hospital General Information ...

  8. Genetics Home Reference: scalp-ear-nipple syndrome

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    ... of the tissues that arise from the ectoderm (ectodermal dysplasia) and leads to the signs and symptoms of ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Ectodermal dysplasia Health Topic: Skin Conditions Genetic and Rare Diseases ...

  9. Genetics Home Reference: neutral lipid storage disease with myopathy

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    ... named? Additional Information & Resources MedlinePlus (6 links) Encyclopedia: Hypothyroidism Encyclopedia: Type 2 Diabetes Health Topic: Cardiomyopathy Health Topic: Lipid Metabolism Disorders Health Topic: Muscle Disorders Health Topic: Pancreatitis Genetic and Rare Diseases ...

  10. Genetics Home Reference: 1p36 deletion syndrome

    Science.gov (United States)

    ... Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  11. Genetics Home Reference: isobutyryl-CoA dehydrogenase deficiency

    Science.gov (United States)

    ... An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  12. Genetics Home Reference: 3q29 microduplication syndrome

    Science.gov (United States)

    ... Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  13. Genetics Home Reference: 3q29 microdeletion syndrome

    Science.gov (United States)

    ... Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  14. Genetics Home Reference: hepatic veno-occlusive disease with immunodeficiency

    Science.gov (United States)

    ... Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Mutations ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  15. Genetics Home Reference: Ellis-van Creveld syndrome

    Science.gov (United States)

    ... bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms ... Ellis-van Creveld Syndrome Encyclopedia: Polydactyly Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  16. Genetics Home Reference: X-linked cardiac valvular dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition congenital valvular heart disease CVD1 filamin-A-associated myxomatous mitral valve disease ... Valves (image) Encyclopedia: Mitral Valve Prolapse Health Topic: Heart Valve Diseases Health Topic: Mitral Valve Prolapse Genetic and Rare ...

  17. Genetics Home Reference: microcephalic osteodysplastic primordial dwarfism type II

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    ... replicating itself in an organized, step-by-step fashion. PCNT gene mutations lead to the production of ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  18. Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency

    Science.gov (United States)

    ... oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  19. Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... deficiency Encyclopedia: Glucose-6-phosphate dehydrogenase test Encyclopedia: Hemolytic anemia Encyclopedia: Newborn jaundice Health Topic: Anemia Health Topic: G6PD Deficiency Health Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 link) Glucose-6-phosphate dehydrogenase ...

  20. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    Science.gov (United States)

    ... Canada, but it has since been found in populations worldwide. Related Information What information about a genetic ... are involved in chemical signaling between nerve cells ( neurons ). SYNE1 gene mutations that cause ARCA1 result in ...

  1. Genetics Home Reference: REN-related kidney disease

    Science.gov (United States)

    ... 2 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (5 links) Encyclopedia: Hyperkalemia Encyclopedia: Renin Health Topic: Anemia Health Topic: Gout Health Topic: Kidney Diseases Additional NIH Resources (2 ...

  2. Genetics Home Reference: uromodulin-associated kidney disease

    Science.gov (United States)

    ... disease Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Health Topic: Gout Health Topic: Kidney Diseases Health Topic: Kidney Failure ...

  3. Genetics Home Reference: biotin-thiamine-responsive basal ganglia disease

    Science.gov (United States)

    ... BTBGD thiamine metabolism dysfunction syndrome 2 thiamine-responsive encephalopathy thiamine transporter-2 deficiency THMD2 Related Information How ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  4. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  5. Genetics Home Reference: mucolipidosis II alpha/beta

    Science.gov (United States)

    ... Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in ... N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet. 2008 Mar;73( ...

  6. Genetics Home Reference: early infantile epileptic encephalopathy 1

    Science.gov (United States)

    ... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

  7. Genetics Home Reference: branchio-oculo-facial syndrome

    Science.gov (United States)

    ... face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo ...

  8. Genetics Home Reference: FOXP2-related speech and language disorder

    Science.gov (United States)

    ... skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  9. Genetics Home Reference: carbamoyl phosphate synthetase I deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. In this condition, the carbamoyl phosphate synthetase I ... Management Resources (4 links) Baby's First Test GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  10. Genetics Home Reference: N-acetylglutamate synthase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Other Diagnosis and Management Resources (3 links) GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  11. Genetics Home Reference: atypical hemolytic-uremic syndrome

    Science.gov (United States)

    ... Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You Educational Resources (6 links) Disease InfoSearch: Hemolytic uremic syndrome, atypical MalaCards: genetic atypical hemolytic-uremic syndrome Merck Manual Consumer Version: Overview of Anemia Merck Manual Consumer Version: ...

  12. Genetics Home Reference: glycogen storage disease type I

    Science.gov (United States)

    ... resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the ... particular ethnic groups? Genetic Changes Mutations in two genes, G6PC and SLC37A4 , cause GSDI. G6PC gene mutations ...

  13. Genetics Home Reference: proximal 18q deletion syndrome

    Science.gov (United States)

    ... characteristic features. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a ... J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet ...

  14. Genetics Home Reference: corticosteroid-binding globulin deficiency

    Science.gov (United States)

    ... There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue. Learn more about the gene associated with corticosteroid-binding globulin deficiency SERPINA6 Related Information What is a gene? What is a ...

  15. Genetics Home Reference: 1q21.1 microdeletion

    Science.gov (United States)

    ... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Citation on PubMed or Free article on PubMed Central Haldeman-Englert CR, Jewett T. ...

  16. Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

    Science.gov (United States)

    ... disorder have been from Saudi Arabia, Portugal, or Spain. Related Information What information about a genetic condition ... Targets Orphanet: 3-hydroxy-3-methylglutaric aciduria Screening, Technology, and Research in Genetics Virginia Department of Health ( ...

  17. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

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    ... Share: Email Facebook Twitter Home Health Conditions IBMPFD Inclusion body myopathy with early-onset Paget disease and ... Javascript to view the expand/collapse boxes. Description Inclusion body myopathy with early-onset Paget disease and ...

  18. Genetics Home Reference: fragile X-associated tremor/ataxia syndrome

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    ... Share: Email Facebook Twitter Home Health Conditions FXTAS Fragile X-associated tremor/ataxia syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated tremor/ataxia syndrome ( FXTAS ) is characterized by ...

  19. Genetics Home Reference: short-chain acyl-CoA dehydrogenase deficiency

    Science.gov (United States)

    ... An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  20. Genetics Home Reference: alveolar capillary dysplasia with misalignment of pulmonary veins

    Science.gov (United States)

    ... Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  1. Genetics Home Reference: keratoconus

    Science.gov (United States)

    ... we stand? J Ophthalmol. 2014;2014:641708. doi: 10.1155/2014/641708. Epub 2014 Aug 28. Review. Citation ... keratoconus. Biomed Res Int. 2015;2015:795738. doi: 10.1155/2015/795738. Epub 2015 May 17. Review. Citation ...

  2. Genetics Home Reference: pilomatricoma

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    ... before birth, as well as the maintenance and repair of adult tissues. Among its many activities, beta-catenin appears to be necessary for the normal function of hair follicles . This protein is active in cells that make up a part of the hair ...

  3. Genetics Home Reference: histidinemia

    Science.gov (United States)

    ... Changes Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme ... expressed) primarily in the liver and the skin . HAL gene mutations lead to the production of a ...

  4. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...

  5. Genetics Home Reference: coloboma

    Science.gov (United States)

    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...

  6. Genetics Home Reference: achromatopsia

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    ... 24 [updated 2016 Feb 25]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Genetics Home Reference: galactosemia

    Science.gov (United States)

    ... 4 [updated 2017 Mar 9]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  8. Genetics Home Reference: choroideremia

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    ... out its protein escort function. This lack of functional REP-1 prevents Rab proteins from reaching and ... the cells of the retina causes the progressive vision loss characteristic of choroideremia . Learn more about the ...

  9. Genetics Home Reference: adermatoglyphia

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    ... a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/ ... and Advocacy Resources (2 links) National Foundation for Ectodermal Dysplasias Resource List from the University of Kansas Medical ...

  10. Genetics Home Reference: pseudoachondroplasia

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    ... R, Susic M, Montufar-Solis D, Duke PJ, Cole WG. Chondrocyte cell death and intracellular distribution of ... a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides ...

  11. Genetics Home Reference: vitiligo

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    ... SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  12. Genetics Home Reference: abetalipoproteinemia

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    ... condition may also develop an eye disorder called retinitis pigmentosa , in which breakdown of the light-sensitive layer ( ... cause vision loss. In individuals with abetalipoproteinemia , the retinitis pigmentosa can result in complete vision loss. People with ...

  13. Genetics Home Reference: fibrochondrogenesis

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    ... 2013 Oct 10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul ... 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep ... 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct ...

  14. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... 2008 Oct 16;455(7215):967-70. doi: 10.1038/nature07398. Citation on PubMed Maris JM. Recent advances ... 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24. Citation on PubMed ...

  15. Genetics Home Reference: galactosialidosis

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    ... Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children ... somewhat different than those of the other two types. This form is ... intellectual disability. People with this form typically also have dark ...

  16. Genetics Home Reference: trimethylaminuria

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    ... also be caused by other factors. The strong body odor may result from an excess of certain proteins ... of trimethylaminuria or experience temporary episodes of strong body odor. Related Information What does it mean if a ...

  17. Genetics Home Reference: neuroferritinopathy

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    ... individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Related ...

  18. Genetics Home Reference: hemophilia

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    ... 6(9):1517-24. Review. Citation on PubMed Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl ... Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of ...

  19. Genetics Home Reference: cholangiocarcinoma

    Science.gov (United States)

    ... year in the United States. This type of cancer occurs much more frequently in Southeast Asian countries such as Thailand, where it is related to infection with a parasite that is common there. For unknown reasons, cholangiocarcinoma ...

  20. Genetics Home Reference: leprosy

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    ... condition occurs worldwide, but is most common in India, Brazil, and other areas with warm climates. Between ... the differential clinical outcomes of leprosy. Infect Dis Poverty. 2017 Feb 6;6(1):5. doi: 10. ...

  1. Genetics Home Reference: aspartylglucosaminuria

    Science.gov (United States)

    ... Sources for This Page Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim Biophys Acta. 1999 Oct ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  2. Genetics Home Reference: otulipenia

    Science.gov (United States)

    ... Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I. Biallelic hypomorphic ...

  3. Genetics Home Reference: hypochondroplasia

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    ... the elbows, a sway of the lower back ( lordosis ), and bowed legs. These signs are generally less ... Management Resources (2 links) GeneReview: Hypochondroplasia MedlinePlus Encyclopedia: Lordosis General Information from MedlinePlus (5 links) Diagnostic Tests ...

  4. Genetics Home Reference: osteoarthritis

    Science.gov (United States)

    ... damage is caused as the body attempts to repair and rebuild these tissues. The immune system, which plays a role in ... the result of the body's failed attempts to repair this damage. In healthy ... of the tissue. This balance is lost in osteoarthritis , leading to ...

  5. Genetics Home Reference: melorheostosis

    Science.gov (United States)

    ... how do mutations occur? How can gene mutations affect health and development? More about Mutations and Health Inheritance Pattern This condition is not inherited from a parent, and it cannot be passed down to children. It arises from somatic mutations in bone cells ...

  6. Genetics Home Reference: hypochondrogenesis

    Science.gov (United States)

    ... Achondrogenesis Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Additional NIH Resources (1 link) National Institute of ... T, Nishimura G, Watanabe H, Arisaka O. Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. ...

  7. Genetics Home Reference: trichothiodystrophy

    Science.gov (United States)

    ... that affects many parts of the body. The hallmark of this condition is brittle hair that is ... the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do ...

  8. Genetics Home Reference: cystinosis

    Science.gov (United States)

    ... is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. ... adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability ...

  9. Genetics Home Reference: acatalasemia

    Science.gov (United States)

    ... and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. Related Information What information about a ... A new type of inherited catalase deficiencies: its characterization and comparison ... and Swiss type of acatalasemia. Blood Cells Mol Dis. 2001 Mar-Apr; ...

  10. Genetics Home Reference: porphyria

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    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... PubMed Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005; ...

  11. Genetics Home Reference: narcolepsy

    Science.gov (United States)

    ... brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. It is unclear what triggers the death of ...

  12. Genetics Home Reference: bradyopsia

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    ... such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble ... Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013 Jan;33(1):5- ...

  13. Genetics Home Reference: polymicrogyria

    Science.gov (United States)

    ... the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and ...

  14. Genetics Home Reference: tyrosinemia

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    ... individuals with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination ( ...

  15. Genetics Home Reference: sialidosis

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    ... called neuraminidase 1 (NEU1), which is found in lysosomes . Lysosomes are compartments within the cell that use enzymes ... is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to ...

  16. Genetics Home Reference: hyperprolinemia

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    ... converting it to the amino acid glutamate. The conversion between proline and glutamate, and the reverse reaction ... Related Information What does it mean if a disorder seems to run in my family? What are ...

  17. Genetics Home Reference: desmosterolosis

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    ... 2001 Aug 22. Citation on PubMed or Free article on PubMed Central Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and ...

  18. Genetics Home Reference: erythromelalgia

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    ... These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering ... legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, ...

  19. Genetics Home Reference: hypophosphatasia

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    ... by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and ... Management Resources (2 links) GeneReview: Hypophosphatasia MedlinePlus Encyclopedia: Osteomalacia General Information from MedlinePlus (5 links) Diagnostic Tests ...

  20. Genetics Home Reference: Barth syndrome

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    ... intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles. Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in ...

  1. Genetics Home Reference: Clouston syndrome

    Science.gov (United States)

    ... Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb; ...

  2. Genetics Home Reference: anauxetic dysplasia

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    ... complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP. The RNase MRP enzyme is thought to be involved in several ... RNA produced from the gene, and the RNase MRP enzyme containing the altered noncoding RNA is impaired ...

  3. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body ordinarily stops the inflammatory response to prevent damage to its own cells and tissues. Mechanical stress on the joints, such as occurs ...

  4. Genetics Home Reference: prothrombin thrombophilia

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    ... complications may include pregnancy-induced high blood pressure ( preeclampsia ), slow fetal growth, and early separation of the ... from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn. 2006 Sep;8(4): ...

  5. Genetics Home Reference: myotonia congenita

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    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  6. Genetics Home Reference: Noonan syndrome

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    ... growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but ...

  7. Genetics Home Reference: ethylmalonic encephalopathy

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    ... 0004.2010.01457.x. Citation on PubMed García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas ... R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard ...

  8. Genetics Home Reference: Dent disease

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    ... body effectively. Some people with Dent disease develop rickets , a bone disorder that results when the levels ... including calcium) in the blood become too low. Rickets can be associated with weakening and softening of ...

  9. Genetics Home Reference: aromatase deficiency

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    ... to impaired female sexual development, unusual bone growth, insulin resistance, and other signs and symptoms of aromatase deficiency . In women who are pregnant with an affected fetus, excess androgens in the ...

  10. Genetics Home Reference: Sandhoff disease

    Science.gov (United States)

    ... Cooper A, Ferrie CD. Juvenile Sandhoff disease--nine new cases and a review of the literature. J Inherit Metab Dis. 2004;27(2):241-9. Review. Citation on PubMed Tay SK, Low PS, Ong HT, Loke KY. Sandhoff disease--a case report of 3 siblings and a review of potential therapies. Ann Acad ...

  11. Genetics Home Reference: Roberts syndrome

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    ... feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal ... may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from ...

  12. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013 Feb;351(2):289- ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  13. Genetics Home Reference: craniofacial microsomia

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    ... the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six ... dysplasia CFM facioauriculovertebral dysplasia FAV first and second branchial arch syndrome first and second pharyngeal arch syndromes ...

  14. Genetics Home Reference: Poland syndrome

    Science.gov (United States)

    ... hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together ( ... cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or ...

  15. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    ... Syndrome Overview. 2015 Oct 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  16. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... 27 [updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  17. Genetics Home Reference: primary hyperoxaluria

    Science.gov (United States)

    ... 19 [updated 2014 Jul 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  18. Genetics Home Reference: Stickler syndrome

    Science.gov (United States)

    ... 9 [updated 2017 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  19. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... 2 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  20. Genetics Home Reference: campomelic dysplasia

    Science.gov (United States)

    ... 31 [updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  1. Genetics Home Reference: myotonic dystrophy

    Science.gov (United States)

    ... 17 [updated 2015 Oct 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  2. Genetics Home Reference: oculocutaneous albinism

    Science.gov (United States)

    ... 17 [updated 2017 Sep 7]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  3. Genetics Home Reference: Timothy syndrome

    Science.gov (United States)

    ... 15 [updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  4. Genetics Home Reference: xeroderma pigmentosum

    Science.gov (United States)

    ... 20 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  5. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... 26 [updated 2017 Feb 2]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  6. Genetics Home Reference: cutis laxa

    Science.gov (United States)

    ... 9 [updated 2016 Aug 18]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Genetics Home Reference: Pendred syndrome

    Science.gov (United States)

    ... 28 [updated 2014 May 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  8. Genetics Home Reference: Wagner syndrome

    Science.gov (United States)

    ... 3 [updated 2016 Jan 7]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  9. Genetics Home Reference: Caffey disease

    Science.gov (United States)

    ... Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J ...

  10. Genetics Home Reference: osteogenesis imperfecta

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    ... 2008 Jul;40(7):927. Citation on PubMed Cole WG. Advances in osteogenesis imperfecta. Clin Orthop Relat ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  11. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    ... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

  12. Genetics Home Reference: Sotos syndrome

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    ... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... Sotos syndrome cases occur in people with no history of the disorder in their family. Most of ...

  13. Genetics Home Reference: Perrault syndrome

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    ... Severely affected girls do not begin menstruation by age 16 (primary amenorrhea), and most never have a menstrual period. Less severely affected women have an early loss of ovarian function (primary ovarian insufficiency); their ...

  14. Genetics Home Reference: Fraser syndrome

    Science.gov (United States)

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome . ... Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse ...

  15. Genetics Home Reference: multiminicore disease

    Science.gov (United States)

    ... are less common than the classic form, together accounting for about 25 percent of all cases. The ... making a protein called selenoprotein N. Although its function is unknown, researchers suspect that this protein may ...

  16. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely ... brain dysregulates the body's energy balance, leading to overeating and severe obesity. POMC deficiency is a rare ...

  17. Genetics Home Reference: Refsum disease

    Science.gov (United States)

    ... disease is caused by an eye disorder called retinitis pigmentosa . This disorder affects the retina , the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...

  18. Genetics Home Reference: acromicric dysplasia

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    ... These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy ... tissues and organs. Additionally, microfibrils store molecules called growth factors, including transforming growth factor beta (TGF-β), ...

  19. Genetics Home Reference: cleidocranial dysplasia

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    ... motor skills such as crawling and walking, but intelligence is unaffected. Related Information What does it mean ... Pawlowska E, Blasiak J. RUNX2: A Master Bone Growth Regulator That May Be Involved in the DNA ...

  20. Genetics Home Reference: Larsen syndrome

    Science.gov (United States)

    ... with Larsen syndrome can survive into adulthood and intelligence is unaffected. Related Information What does it mean ... B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes ...

  1. Genetics Home Reference: oculodentodigital dysplasia

    Science.gov (United States)

    ... likely interferes with normal cell growth and cell specialization, processes that determine the shape and function of ... NORD) The Foundation Fighting Blindness University of Kansas Medical Center Resource List: Hard of Hearing/Deafness Scientific ...

  2. Genetics Home Reference: Grange syndrome

    Science.gov (United States)

    ... gene activity (expression), repair of damaged DNA, cell specialization (differentiation), and cell growth and division (proliferation). Researchers ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  3. Genetics Home Reference: Jacobsen syndrome

    Science.gov (United States)

    ... compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also ...

  4. Genetics Home Reference: Glanzmann thrombasthenia

    Science.gov (United States)

    ... Aug 8. Review. Citation on PubMed or Free article on PubMed Central Pillitteri D, Pilgrimm AK, Kirchmaier CM. Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37( ...

  5. Genetics Home Reference: tetrahydrobiopterin deficiency

    Science.gov (United States)

    ... 1-16. Review. Citation on PubMed or Free article on PubMed Central Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin ...

  6. Genetics Home Reference: cap myopathy

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    ... crawling, standing, and walking. They may fall frequently, tire easily, and have difficulty running, climbing stairs, or ... does it mean if a disorder seems to run in my family? What is the prognosis of ...

  7. Genetics Home Reference: celiac disease

    Science.gov (United States)

    ... do not have celiac disease . On average, a diagnosis of celiac disease is not made until 6 to 10 years ... and tissues and leads to the signs and symptoms of celiac disease . Almost all people with celiac disease have specific ...

  8. Genetics Home Reference: Alagille syndrome

    Science.gov (United States)

    ... abnormalities. This combination of heart defects is called tetralogy of Fallot . People with Alagille syndrome may have distinctive facial ... the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do ...

  9. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  10. Genetics Home Reference: Mabry syndrome

    Science.gov (United States)

    ... 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Citation on PubMed ... 2010 Mar-Apr;53(2):85-8. doi: 10.1016/j.ejmg.2010.01.002. Epub 2010 Jan ... 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun ...

  11. Genetics Home Reference: centronuclear myopathy

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    ... 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul ... 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul ... Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb ...

  12. Genetics Home Reference: Robinow syndrome

    Science.gov (United States)

    ... 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar ... 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar ... 16. pii: S0002-9297(17)30422-6. doi: 10.1016/j.ajhg.2017.10.002. [Epub ahead of ...

  13. Genetics Home Reference: malignant hyperthermia

    Science.gov (United States)

    ... 1722-30. Review. Citation on PubMed Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA. ... 27(10):977-89. Review. Citation on PubMed Rosenberg H, Davis M, James D, Pollock N, Stowell ...

  14. Genetics Home Reference: fundus albipunctatus

    Science.gov (United States)

    ... Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T. Lack of autofluorescence in fundus albipunctatus associated ... Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundus albipunctatus associated with compound heterozygous mutations ...

  15. Genetics Home Reference: prostate cancer

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    ... Jan;73(2):169-75. doi: 10.1002/pros.22552. Epub 2012 Jun 21. Citation on PubMed or Free article on PubMed Central Nakagawa H. Prostate cancer genomics by high-throughput technologies: genome-wide association study and sequencing analysis. Endocr ...

  16. Genetics Home Reference: Krabbe disease

    Science.gov (United States)

    ... breaks down certain fats called galactolipids. One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important ... the production of myelin, is toxic if not broken down by galactosylceramidase. GALC gene mutations severely reduce ...

  17. Genetics Home Reference: ovarian cancer

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    ... is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 ... AKT1 BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 CTNNB1 MLH1 MRE11 MSH2 MSH6 NBN OPCML PALB2 PIK3CA PMS2 ...

  18. Genetics Home Reference: methylmalonic acidemia

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    ... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr;154(4):551-6. ...

  19. Genetics Home Reference: argininosuccinic aciduria

    Science.gov (United States)

    ... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 Oct;134(10 Suppl):2775S- ...

  20. Genetics Home Reference: WAGR syndrome

    Science.gov (United States)

    ... the chromosome 11 deletion includes an additional gene, BDNF . This gene is active (expressed) in the brain ... nerve cells ( neurons ). The protein produced from the BDNF gene is thought to be involved in the ...

  1. Genetics Home Reference: Wolfram syndrome

    Science.gov (United States)

    ... important in the pancreas , where the protein is thought to help process a protein called proinsulin into the mature hormone ... individuals. The death of cells in other body systems likely causes the various signs and symptoms of ...

  2. Genetics Home Reference: dihydropyrimidinase deficiency

    Science.gov (United States)

    ... pyrimidines also impedes the final step of the process, which produces molecules called beta-aminoisobutyric acid and beta-alanine. Both of these molecules are thought to protect the nervous system and help it function properly. Reduced production of ...

  3. Genetics Home Reference: nemaline myopathy

    Science.gov (United States)

    ... deformities, abnormal curvature of the spine ( scoliosis ), and joint deformities (contractures). Most people with nemaline myopathy are ... Centre for Rare Diseases Washington University, St. Louis: Neuromuscular Disease Center Patient Support and Advocacy Resources (3 ...

  4. Genetics Home Reference: pontocerebellar hypoplasia

    Science.gov (United States)

    ... PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and ... InfoSearch: Pontocerebellar hypoplasia type 6 MalaCards: pontocerebellar hypoplasia Neuromuscular Disease Center, Washington University, St. Louis: Pontocerebellar Hypoplasia ...

  5. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet ... article on PubMed Central Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin ...

  6. Genetics Home Reference: Partington syndrome

    Science.gov (United States)

    ... Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine ... The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review. ...

  7. Genetics Home Reference: Down syndrome

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    ... called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual ... Kennedy Shriver National Institute of Child Health and Human Development GeneEd National Human Genome Research Institute National ...

  8. Genetics Home Reference: Miyoshi myopathy

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    ... links) Centers for Disease Control and Prevention: Muscular Dystrophy Cincinnati Children's Hospital: Molkentin Lab: Mechanisms of Duchenne and Miyoshi Myopathy Disease InfoSearch: Miyoshi myopathy Jain ...

  9. Genetics Home Reference: blepharocheilodontic syndrome

    Science.gov (United States)

    ... and mouth. This protein is involved in the attachment of cells to one another (cell adhesion). The p120-catenin protein helps keep E-cadherin in its proper place in the cell membrane, preventing it from being ...

  10. Genetics Home Reference: Brody myopathy

    Science.gov (United States)

    ... 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum . This structure plays a major role in muscle contraction and relaxation by storing and releasing positively charged ...

  11. Genetics Home Reference: surfactant dysfunction

    Science.gov (United States)

    ... sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen ...

  12. Genetics Home Reference: Gilbert syndrome

    Science.gov (United States)

    ... instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with ... to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the ...

  13. Genetics Home Reference: trisomy 18

    Science.gov (United States)

    ... Hallahan T, Jackson L; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  14. Genetics Home Reference: Fanconi anemia

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    ... Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. Review. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  15. Genetics Home Reference: ankylosing spondylitis

    Science.gov (United States)

    ... Helmick CG, Felson DT, Lawrence RC, Gabriel S, Hirsch R, Kwoh CK, Liang MH, Kremers HM, Mayes MD, Merkel PA, Pillemer SR, Reveille JD, Stone JH; National Arthritis Data Workgroup. Estimates of the ...

  16. Genetics Home Reference: CHARGE syndrome

    Science.gov (United States)

    ... syndrome are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). Abnormalities of external genitalia are seen less often in affected females. Puberty can be incomplete or delayed in affected males ...

  17. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  18. Genetics Home Reference: Blau syndrome

    Science.gov (United States)

    ... and Advocacy Resources (3 links) Autoinflammatory Alliance Ocular Immunology and Uveitis Foundation Stop Childhood Auto Inflammatory Diseases (CAID) Now Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  19. Genetics Home Reference: allergic asthma

    Science.gov (United States)

    ... links) Health Topic: Allergy Health Topic: Asthma Health Topic: Asthma in Children Additional NIH Resources (1 link) National Heart, Lung, and Blood Institute Educational Resources (12 links) American Academy of Allergy Asthma and Immunology: Allergies Asthma and Allergy Foundation of America: What ...

  20. Genetics Home Reference: Kawasaki disease

    Science.gov (United States)

    ... how do mutations occur? How can gene mutations affect health and development? More about ... but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the ...

  1. Genetics Home Reference: Tangier disease

    Science.gov (United States)

    ... Maxfield FR, Tabas I. Role of cholesterol and lipid organization in disease. Nature. 2005 Dec 1;438(7068):612-21. ... Hubácek JA. ATP-binding cassette (ABC) transporters in human metabolism and diseases. Physiol Res. 2004;53(3):235-43. Review. ...

  2. Genetics Home Reference: familial dysautonomia

    Science.gov (United States)

    ... of developmental delay. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of ...

  3. Genetics Home Reference: Carney complex

    Science.gov (United States)

    ... cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face ... Institute of Diabetes and Digestive and Kidney Diseases: Cushing's Syndrome Educational Resources (6 links) Disease InfoSearch: Carney Complex ...

  4. Genetics Home Reference: encephalocraniocutaneous lipomatosis

    Science.gov (United States)

    ... and they vary widely among affected individuals. A hallmark feature of ECCL is a noncancerous tumor under ... increased risk of developing a type of brain cancer called a glioma. The brain and spinal cord ...

  5. Genetics Home Reference: cerebrotendinous xanthomatosis

    Science.gov (United States)

    ... links) National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Information Page Rare Diseases Clinical Research Network: Sterol & Isopernoid Research Consortium Educational Resources (5 ...

  6. Genetics Home Reference: Hartsfield syndrome

    Science.gov (United States)

    ... the hands and feet called ectrodactyly. During early development before birth, the brain normally divides into two halves, the right and left hemispheres . Holoprosencephaly occurs when the brain fails to ...

  7. Genetics Home Reference: acrocallosal syndrome

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    ... callosum occurs when the tissue that connects the left and right halves of the brain (the corpus callosum ) fails to form normally during the early stages of development before birth. Other brain abnormalities, including the growth ...

  8. Genetics Home Reference: nonsyndromic holoprosencephaly

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    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  9. Genetics Home Reference: Perry syndrome

    Science.gov (United States)

    ... Advocacy Resources (5 links) American Parkinson Disease Association Michael J. Fox Foundation for Parkinson's Research National Alliance on ... Apr;20(4):388-93. doi: 10.1016/j.parkreldis.2014.01.010. Epub 2014 Jan 22. ... C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in ...

  10. Genetics Home Reference: hereditary hemochromatosis

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    ... Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in ... about the genes associated with hereditary hemochromatosis HAMP HFE HJV PNPLA3 SLC40A1 TFR2 Related Information What is a gene? What is a gene mutation and how do ...

  11. Genetics Home Reference: cranioectodermal dysplasia

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    ... Citation on PubMed Taschner M, Bhogaraju S, Lorentzen E. Architecture and function of IFT complex proteins in ciliogenesis. ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  12. Genetics Home Reference: Gillespie syndrome

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    ... generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue ... syndrome is unknown. Only a few dozen affected individuals have been described in the medical ... accounts for about 2 percent of cases of aniridia . ...

  13. Genetics Home Reference: multiple sclerosis

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    ... closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

  14. Genetics Home Reference: prion disease

    Science.gov (United States)

    ... which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal ... Sc . Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease- ...

  15. Genetics Home Reference: periventricular heterotopia

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    ... of the two sex chromosomes . The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ...

  16. Genetics Home Reference: dyskeratosis congenita

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    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one ...

  17. Genetics Home Reference: Kallmann syndrome

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    ... in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected mother or father . Other cases result from new mutations in the ...

  18. Genetics Home Reference: retinitis pigmentosa

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    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008; ...

  19. Genetics Home Reference: Alport syndrome

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    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... is characterized by hematuria. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People ...

  20. Genetics Home Reference: Cockayne syndrome

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    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  1. Genetics Home Reference: parathyroid cancer

    Science.gov (United States)

    ... skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading ... Institute: Parathyroid Cancer Treatment PDQ National Institute of Diabetes and Digestive and Kidney Diseases: Primary Hyperparathyroidism Educational ...

  2. Genetics Home Reference: Greenberg dysplasia

    Science.gov (United States)

    ... of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows ... this loss causes the condition. Absence of the sterol reductase function disrupts the normal synthesis of cholesterol within cells. This absence may also ...

  3. Genetics Home Reference: Raynaud phenomenon

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    ... about 15 minutes after the cold exposure or stressor has ended and involves mild discomfort such as ... condition, occurring in 3 to 5 percent of adults worldwide. It is more common in females than ...

  4. Genetics Home Reference: ocular albinism

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    ... structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  5. Genetics Home Reference: propionic acidemia

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    ... Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani ... Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani ...

  6. Genetics Home Reference: schizoaffective disorder

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    ... the body's daily ( circadian ) rhythms, such as the sleep-wake cycle; others that help control the movement (migration) of nerve cells during brain development; and still others involved in sending and receiving chemical signals in the brain. In particular, several genes ...

  7. Genetics Home Reference: Dupuytren contracture

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    ... contract. The increased number of myofibroblasts in this disorder cause abnormal contraction of the fascia and produce excess amounts ... protein called type III collagen. The combination of abnormal contraction and excess type III ... risk factors for developing Dupuytren contracture may ...

  8. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    ... aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspected that ... in the transport of water molecules out of neurons. Mutations in the ASPA gene reduce the function of aspartoacylase, which prevents the normal breakdown of ...

  9. Genetics Home Reference: Pfeiffer syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (7 links) Boston Children's Hospital Cincinnati Children's Hospital Medical Center: Craniosynostosis Collaboration ...

  10. Genetics Home Reference: Moebius syndrome

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    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (5 links) Children's Craniofacial Association: A Guide to Understanding Moebius Syndrome ( ...

  11. Genetics Home Reference: Fabry disease

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    ... Stroke: Fabry's Disease Information Page National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet Educational Resources (8 links) Children Living With Inherited Metabolic Diseases (CLIMB) (UK): Fabry ...

  12. Genetics Home Reference: Crouzon syndrome

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    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (7 links) Boston Children's Hospital Collaboration for Craniofacial Development and Disorders, Johns ...

  13. Genetics Home Reference: Apert syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (9 links) Boston Children's Hospital Collaboration for Craniofacial Development and Disorders, Johns ...

  14. Genetics Home Reference: Knobloch syndrome

    Science.gov (United States)

    ... Institute: Facts About Retinal Detachment National Institute of Neurological Disorders and Stroke: Encephaloceles Educational Resources (6 links) Boston Children's Hospital: Retinal Disorders Q&A Disease InfoSearch: Knobloch ...

  15. Genetics Home Reference: hidradenitis suppurativa

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    ... Apr;60(4):539-61; quiz 562-3. doi: 10.1016/j.jaad.2008.11.911. Review. ... Acad Dermatol. 2009 Jul;61(1):51-7. doi: 10.1016/j.jaad.2009.02.013. Epub ... Dermatol Clin. 2010 Oct;28(4):779-93. doi: 10.1016/j.det.2010.07.003. Review. ...

  16. Genetics Home Reference: Omenn syndrome

    Science.gov (United States)

    ... immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. Erratum in: Front ... immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. Erratum in: Front ...

  17. Genetics Home Reference: Klinefelter syndrome

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    ... usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of ... genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and ...

  18. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, ...

  19. Genetics Home Reference: Meckel syndrome

    Science.gov (United States)

    ... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with ...

  20. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur ...

  1. Genetics Home Reference: DOORS syndrome

    Science.gov (United States)

    ... structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells . The stereocilia bend in response to sound waves, which is critical for converting sound waves to ...

  2. Genetics Home Reference: Cushing disease

    Science.gov (United States)

    ... decreased muscle mass leading to weakness and reduced stamina, thinning skin causing stretch marks and easy bruising, ... one copy of the altered gene in each cell is sufficient to cause the disorder. Related Information ...

  3. Genetics Home Reference: Ewing sarcoma

    Science.gov (United States)

    ... produced from the FLI1 gene, attaches (binds) to DNA and regulates an activity called transcription , which is the first step in the production ... regulates transcription. The EWS/FLI protein has the DNA-binding function of ... well as the transcription regulation function of the EWS protein. It is ...

  4. Genetics Home Reference: bladder cancer

    Science.gov (United States)

    ... Testing Registry: Malignant tumor of urinary bladder Other Diagnosis and Management Resources (1 link) MedlinePlus Encyclopedia: Bladder Cancer General Information from MedlinePlus (5 links) Diagnostic Tests ...

  5. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs ... fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get ...

  6. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    ... This Page Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr ... on PubMed or Free article on PubMed Central Armour CM, Allanson JE. Further delineation of cardio-facio- ...

  7. Genetics Home Reference: pseudocholinesterase deficiency

    Science.gov (United States)

    ... BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003 Aug;49(8):1297- ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

  8. Genetics Home Reference: Huntington disease

    Science.gov (United States)

    ... an earlier onset of signs and symptoms. This phenomenon is called anticipation . People with the adult-onset ... As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may ...

  9. Genetics Home Reference: lipoid proteinosis

    Science.gov (United States)

    ... persist throughout life and can ultimately cause difficulty speaking or complete loss of speech. Involvement of the ... still unclear. Deposits can be found in some internal organs, including the stomach , a section of the ...

  10. Genetics Home Reference: Troyer syndrome

    Science.gov (United States)

    ... Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an ... Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological ...

  11. Genetics Home Reference: glycine encephalopathy

    Science.gov (United States)

    ... seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood ...

  12. Genetics Home Reference: motion sickness

    Science.gov (United States)

    ... motion, particularly traveling in a car, bus, train, airplane, or boat. Amusement park rides, skiing, and virtual ... Association ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  13. Genetics Home Reference: immune thrombocytopenia

    Science.gov (United States)

    ... the mouth. In severe cases, individuals may have gastrointestinal bleeding or blood in the urine or stool, or ... preceded by a minor infection, such as an upper respiratory infection, but the relationship between the infection ...

  14. Genetics Home Reference: Pompe disease

    Science.gov (United States)

    ... as acid maltase). This enzyme is active in lysosomes , which are structures that serve as recycling centers ... sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the ...

  15. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... MJ, Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation ... chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res. 2000 ... NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3: ...

  16. Genetics Home Reference: Darier disease

    Science.gov (United States)

    ... when they are exposed to heat and humidity. UV light; minor injury or friction, such as rubbing or ... the social stigma experienced by people with numerous skin blemishes. A form of Darier disease known as ...

  17. Genetics Home Reference: Kabuki syndrome

    Science.gov (United States)

    ... also have seizures, an unusually small head size ( microcephaly ), or weak muscle tone (hypotonia). Some have eye ... Syndrome ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (2 links) ...

  18. Genetics Home Reference: Emanuel syndrome

    Science.gov (United States)

    ... of Emanuel syndrome include an unusually small head ( microcephaly ), distinctive facial features, and a small lower jaw ( ... MedlinePlus Encyclopedia: Cleft Lip and Palate MedlinePlus Encyclopedia: Microcephaly MedlinePlus Encyclopedia: Preauricular Tag or Pit General Information ...

  19. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... Feingold syndrome include an unusually small head size ( microcephaly ), a small jaw ( micrognathia ), a narrow opening of ... Duodenal Atresia MedlinePlus Encyclopedia: Esophageal Atresia MedlinePlus Encyclopedia: Microcephaly MedlinePlus Encyclopedia: Webbing of the Fingers or Toes ...

  20. Genetics Home Reference: Cohen syndrome

    Science.gov (United States)

    ... by developmental delay, intellectual disability, small head size ( microcephaly ), and weak muscle tone (hypotonia). Other features common ... Researchers speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and that abnormal ...

  1. Genetics Home Reference: Peters anomaly

    Science.gov (United States)

    ... Disease Patient Support and Advocacy Resources (3 links) Children's Eye Foundation Contact a Family Resource List from the University of Kansas Medical Center: Blind/Visual Impairment ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles ...

  2. Genetics Home Reference: congenital afibrinogenemia

    Science.gov (United States)

    ... from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are ... blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, ...

  3. Genetics Home Reference: moyamoya disease

    Science.gov (United States)

    ... as neurofibromatosis type 1 , sickle cell disease , or Graves disease . These individuals are said to have moyamoya syndrome. ... altered gene in each cell is sufficient to cause the disorder. However, some people who have a ...

  4. Genetics Home Reference: Myhre syndrome

    Science.gov (United States)

    ... control the activity of particular genes. These genes influence the development of many body systems. Studies suggest that the ... occur? How can gene mutations affect health and development? More about Mutations and Health ... What does it mean if a disorder seems to run in my family? What are the different ways in which a ...

  5. Genetics Home Reference: FG syndrome

    Science.gov (United States)

    ... MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, ... E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, ...

  6. Genetics Home Reference: Christianson syndrome

    Science.gov (United States)

    ... Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley ... should not be used as a substitute for professional medical care or advice. Users with questions about ...

  7. Genetics Home Reference: Hirschsprung disease

    Science.gov (United States)

    ... occur in combination with other conditions, such as Waardenburg syndrome , type IV; Mowat-Wilson syndrome ; or congenital central ... Disease MalaCards: hirschsprung disease 1 Orphanet: Hirschsprung disease Patient Support and Advocacy Resources (4 links) Bowel Group ...

  8. Genetics Home Reference: Yao syndrome

    Science.gov (United States)

    ... on PubMed Yao Q, Myles J, Shen B, McDonald C. NOD2-associated autoinflammatory disease: an exploratory study ... 28. Citation on PubMed Yao Q, Shen M, McDonald C, Lacbawan F, Moran R, Shen B. NOD2- ...

  9. Genetics Home Reference: Swyer syndrome

    Science.gov (United States)

    ... of female secondary sex characteristics such as breast enlargement and uterine growth. Hormone replacement therapy also helps ... the urethra opening on the underside of the penis (hypospadias). Related Information What does it mean if ...

  10. Genetics Home Reference: 48,XXYY syndrome

    Science.gov (United States)

    ... seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization ... the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on ...

  11. Genetics Home Reference: hereditary paraganglioma-pheochromocytoma

    Science.gov (United States)

    ... 295(6):628. Citation on PubMed Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  12. Genetics Home Reference: cartilage-hair hypoplasia

    Science.gov (United States)

    ... complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP. The RNase MRP enzyme is thought to be involved in several ... energy-producing centers of cells ( mitochondria ). The RNase MRP enzyme probably also processes ribosomal RNA , which is ...

  13. Genetics Home Reference: White-Sutton syndrome

    Science.gov (United States)

    ... Disorder National Institute of Neurological Disorders and Stroke: Autism Spectrum Disorder Fact Sheet Educational Resources (7 links) American Academy of Child and Adolescent Psychiatry: Intellectual Disabilities American Academy of Family Physicians: Caring for a Person Who Has Intellectual ...

  14. Genetics Home Reference: familial Mediterranean fever

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. When this process is complete, the body stops the inflammatory response to prevent damage to its own cells and tissues. Mutations in the MEFV gene reduce the activity ...

  15. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. Normally, the body stops the inflammatory response after healing is complete to prevent damage to its own cells and tissues. In people with juvenile idiopathic arthritis , the inflammatory ...

  16. Genetics Home Reference: Muckle-Wells syndrome

    Science.gov (United States)

    ... disease to fight microbial invaders and facilitate tissue repair. When this has been accomplished, the body stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues. Cryopyrin is involved in the assembly of a ...

  17. Genetics Home Reference: CLN1 disease

    Science.gov (United States)

    ... a palmitoyl-protein thioesterase 1 enzyme that has a reduced level of normal function; however, protein function in these ... Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. ...

  18. Genetics Home Reference: giant congenital melanocytic nevus

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    ... Feb;74(2):223-9. doi: 10.1097/SAP.0b013e3182920c3d. Citation on PubMed Salgado CM, Basu D, ... Reviewed : December 2014 Published : June 26, 2018 The resources on this site should not be used as a substitute ... Department of Health & Human Services National Institutes of Health National Library of ...

  19. Genetics Home Reference: IRAK-4 deficiency

    Science.gov (United States)

    ... Blanco JC, Salkowski C, Zhang S, Arditi M, Gallin JI, Vogel SN. Distinct mutations in IRAK-4 confer ... Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino ...

  20. Genetics Home Reference: carbonic anhydrase VA deficiency

    Science.gov (United States)

    ... Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. Mitochondrial carbonic ...

  1. Genetics Home Reference: intrahepatic cholestasis of pregnancy

    Science.gov (United States)

    ... affect 1 percent of women of Northern European ancestry. The condition is more common in certain populations, such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This ...

  2. Genetics Home Reference: purine nucleoside phosphorylase deficiency

    Science.gov (United States)

    ... the expand/collapse boxes. Description Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and ...

  3. Genetics Home Reference: mosaic variegated aneuploidy syndrome

    Science.gov (United States)

    ... In MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at ... InfoSearch: Warburton Anyane Yeboa syndrome KidsHealth from Nemours: Intrauterine Growth Restriction ... mosaic variegated aneuploidy syndrome 1 MalaCards: ...

  4. Genetics Home Reference: 5-alpha reductase deficiency

    Science.gov (United States)

    ... not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, ... chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of ...

  5. Genetics Home Reference: sick sinus syndrome

    Science.gov (United States)

    ... can include dizziness, light-headedness, fainting (syncope), a sensation of fluttering or pounding in the chest (palpitations), and confusion or memory problems. During exercise, many affected individuals experience chest ...

  6. Genetics Home Reference: spinocerebellar ataxia type 3

    Science.gov (United States)

    ... time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving. Signs and symptoms of ...

  7. Genetics Home Reference: palmoplantar keratoderma with deafness

    Science.gov (United States)

    ... Melegh B. Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. Review. Citation on PubMed Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys ...

  8. Genetics Home Reference: color vision deficiency

    Science.gov (United States)

    ... my area? Other Names for This Condition color blindness color vision defects defective color vision vision defect, color ... Perception KidsHealth from the Nemours Foundation MalaCards: color blindness MalaCards: color vision deficiency Orphanet: Blue cone monochromatism Orphanet: NON ...

  9. Genetics Home Reference: ophthalmo-acromelic syndrome

    Science.gov (United States)

    ... The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small ( microphthalmia ). Usually ... limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome . It ...

  10. Genetics Home Reference: Lenz microphthalmia syndrome

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    ... eyeballs that are abnormally small ( microphthalmia ) or absent (anophthalmia), leading to vision loss or blindness. Other eye ... Lenz dysplasia Lenz syndrome MAA MCOPS1 microphthalmia or anophthalmos with associated anomalies microphthalmia, syndromic 1 Related Information ...

  11. Genetics Home Reference: Bosma arhinia microphthalmia syndrome

    Science.gov (United States)

    ... the eyeballs are abnormally small ( microphthalmia ) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional ... The National Craniofacial Association Hormone Health Network Microphthalmia, Anophthalmia and Coloboma Support (UK) National Organization for Rare ...

  12. Genetics Home Reference: factor XI deficiency

    Science.gov (United States)

    ... with this disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or prolonged bleeding after childbirth. In ... the particular mutation and whether one or both copies of the F11 gene in each cell have ...

  13. Genetics Home Reference: central precocious puberty

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    ... odor. Girls also develop breasts and begin their menstrual periods. Boys have growth of the penis and ... puberty earlier than normal. For most genes, both copies of the gene (one copy inherited from each ...

  14. Genetics Home Reference: factor XIII deficiency

    Science.gov (United States)

    ... XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses ( ... inheritance, which means that it results when both copies of either the F13A1 gene or the F13B ...

  15. Genetics Home Reference: Bernard-Soulier syndrome

    Science.gov (United States)

    ... Bernard-Soulier syndrome often have heavy or prolonged menstrual periods (menorrhagia). Related Information What does it mean ... in an autosomal recessive pattern , which means both copies of the GP1BA , GP1BB , or GP9 gene in ...

  16. Genetics Home Reference: familial isolated hyperparathyroidism

    Science.gov (United States)

    ... hyperparathyroidism is considered a form of primary hyperparathyroidism. Disruption of the normal calcium balance resulting from overactive ... condition is elevated calcium levels identified through a routine blood test, even though the affected individual may ...

  17. Genetics Home Reference: familial cold autoinflammatory syndrome

    Science.gov (United States)

    ... inflammatory response. Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 ... cold autoinflammatory syndrome Orphanet: Familial cold urticaria Patient Support and Advocacy Resources (3 links) Autoinflammatory Alliance National ...

  18. Genetics Home Reference: septo-optic dysplasia

    Science.gov (United States)

    ... growth and unusually short stature. Severe cases cause panhypopituitarism, a condition in which the pituitary produces no hormones. Panhypopituitarism is associated with slow growth, low blood sugar ( ...

  19. Genetics Home Reference: Smith-Magenis syndrome

    Science.gov (United States)

    ... 22 [updated 2012 Jun 28]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  20. Genetics Home Reference: Zellweger spectrum disorder

    Science.gov (United States)

    ... 12 [updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  1. Genetics Home Reference: Wiskott-Aldrich syndrome

    Science.gov (United States)

    ... 30 [updated 2016 Sep 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  2. Genetics Home Reference: Townes-Brocks Syndrome

    Science.gov (United States)

    ... 24 [updated 2016 Jan 14]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  3. Genetics Home Reference: tetra-amelia syndrome

    Science.gov (United States)

    ... 28 [updated 2012 Aug 2]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  4. Genetics Home Reference: Weill-Marchesani syndrome

    Science.gov (United States)

    ... 1 [updated 2013 Feb 14]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  5. Genetics Home Reference: Treacher Collins syndrome

    Science.gov (United States)

    ... 20 [updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  6. Genetics Home Reference: multiple endocrine neoplasia

    Science.gov (United States)

    ... 31 [updated 2015 Feb 12]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Genetics Home Reference: polycystic kidney disease

    Science.gov (United States)

    ... 10 [updated 2015 Jun 11]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  8. Genetics Home Reference: tibial muscular dystrophy

    Science.gov (United States)

    ... 17 [updated 2013 Aug 8]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  9. Genetics Home Reference: Holt-Oram syndrome

    Science.gov (United States)

    ... 20 [updated 2015 Oct 8]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  10. Genetics Home Reference: X-linked agammaglobulinemia

    Science.gov (United States)

    ... 5 [updated 2016 Aug 4]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  11. Genetics Home Reference: vitelliform macular dystrophy

    Science.gov (United States)

    ... 30 [updated 2013 Dec 12]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  12. Genetics Home Reference: Rothmund-Thomson syndrome

    Science.gov (United States)

    ... Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, ... Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, ... Plon SE. Association between osteosarcoma and deleterious mutations in ...

  13. Genetics Home Reference: L1 syndrome

    Science.gov (United States)

    ... Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Citation on PubMed Christaller ... Neurosci. 2016 Jul;59(3):376-81. doi: 10.1007/s12031-016-0754-3. Citation on PubMed Finckh ...

  14. Genetics Home Reference: Cornelia de Lange syndrome

    Science.gov (United States)

    ... Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  15. Genetics Home Reference: pseudohypoaldosteronism type 2

    Science.gov (United States)

    ... Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan ... hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. ...

  16. Genetics Home Reference: Floating-Harbor syndrome

    Science.gov (United States)

    ... Patton MA, Hurst J, Donnai D, McKeown CM, Cole T, Goodship J. Floating-Harbor syndrome. J Med ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  17. Genetics Home Reference: RAB18 deficiency

    Science.gov (United States)

    ... Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  18. Genetics Home Reference: spondyloepimetaphyseal dysplasia, Strudwick type

    Science.gov (United States)

    ... White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM. A glycine to aspartic ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  19. Genetics Home Reference: juvenile primary lateral sclerosis

    Science.gov (United States)

    ... Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  20. Genetics Home Reference: pyruvate carboxylase deficiency

    Science.gov (United States)

    ... of Kansas Medical Center: Metabolic Conditions United Mitochondrial Disease Foundation GeneReviews (1 ... Sources for This Page Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke ...