| H00682 | |
| H number | H00682 |
| Name | Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
| Description | Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein. |
| Category | Congenital malformation |
| Network | - |
| Gene | C2orf37 [HSA:80067] [KO:K23331] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A61.Y ICD-10: Q87.8 MeSH: C536742 OMIM: 241080 |
| Reference | PMID:17710875 AUTHORS Medica I, Sepcic J, Peterlin B TITLE Woodhouse-Sakati syndrome: case report and symptoms review. JOURNAL Genet Couns 18:227-31 (2007) PMID:19026396 AUTHORS Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS TITLE Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. JOURNAL Am J Hum Genet 83:684-91 (2008) DOI:10.1016/j.ajhg.2008.10.018 PMID:20507343 AUTHORS Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS TITLE C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. JOURNAL Clin Genet 78:585-90 (2010) DOI:10.1111/j.1399-0004.2010.01441.x PMID:21964978 AUTHORS Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A TITLE Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene. JOURNAL Am J Med Genet A 155:2647-53 (2011) DOI:10.1002/ajmg.a.34219 |