| H01001 | |
| H番号 | H01001 |
| 名称 | COACH 症候群 |
| 概要 | COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called the 'molar tooth sign' that is characteristic to Joubert syndrome. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.0Y ICD-10: Q04.3 MeSH: C536430 OMIM: 216360 619111 619113 |
| 文献 | PMID:2929661 著者 Verloes A, Lambotte C タイトル Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. 雑誌 Am J Med Genet 32:227-32 (1989) DOI:10.1002/ajmg.1320320217 PMID:8862632 著者 Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G タイトル COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. 雑誌 Am J Med Genet 64:514-20 (1996) DOI:10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO;2-O PMID:19574260 (COACH1-3) 著者 Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA タイトル Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 雑誌 J Med Genet 47:8-21 (2010) DOI:10.1136/jmg.2009.067249 |