| H01001 | |
| H number | H01001 |
| Name | COACH syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.0Y ICD-10: Q04.3 MeSH: C536430 OMIM: 216360 619111 619113 |
| Reference | PMID:2929661 AUTHORS Verloes A, Lambotte C TITLE Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. JOURNAL Am J Med Genet 32:227-32 (1989) DOI:10.1002/ajmg.1320320217 PMID:8862632 AUTHORS Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G TITLE COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. JOURNAL 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) AUTHORS 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 TITLE Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). JOURNAL J Med Genet 47:8-21 (2010) DOI:10.1136/jmg.2009.067249 |