| H01012 | |
| H number | H01012 |
| Name | Oculo-auricular syndrome |
| Description | Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | HMX1 [HSA:3166] [KO:K09349] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD21.Y ICD-10: Q18 OMIM: 612109 |
| Reference | PMID:18423520 AUTHORS Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL TITLE Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. JOURNAL Am J Hum Genet 82:1178-84 (2008) DOI:10.1016/j.ajhg.2008.03.007 PMID:21417677 AUTHORS Vaclavik V, Schorderet DF, Borruat FX, Munier FL TITLE Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. JOURNAL Ophthalmic Genet 32:114-7 (2011) DOI:10.3109/13816810.2011.562955 |