| H00682 | |
| H番号 | H00682 |
| 名称 | Woodhouse-Sakati 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | C2orf37 [HSA:80067] [KO:K23331] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A61.Y ICD-10: Q87.8 MeSH: C536742 OMIM: 241080 |
| 文献 | PMID:17710875 著者 Medica I, Sepcic J, Peterlin B タイトル Woodhouse-Sakati syndrome: case report and symptoms review. 雑誌 Genet Couns 18:227-31 (2007) PMID:19026396 著者 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 タイトル Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 雑誌 Am J Hum Genet 83:684-91 (2008) DOI:10.1016/j.ajhg.2008.10.018 PMID:20507343 著者 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 タイトル C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 雑誌 Clin Genet 78:585-90 (2010) DOI:10.1111/j.1399-0004.2010.01441.x PMID:21964978 著者 Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A タイトル Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene. 雑誌 Am J Med Genet A 155:2647-53 (2011) DOI:10.1002/ajmg.a.34219 |