| H01012 | |
| H番号 | H01012 |
| 名称 | 眼-耳症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | HMX1 [HSA:3166] [KO:K09349] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD21.Y ICD-10: Q18 OMIM: 612109 |
| 文献 | PMID:18423520 著者 Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL タイトル Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 雑誌 Am J Hum Genet 82:1178-84 (2008) DOI:10.1016/j.ajhg.2008.03.007 PMID:21417677 著者 Vaclavik V, Schorderet DF, Borruat FX, Munier FL タイトル Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. 雑誌 Ophthalmic Genet 32:114-7 (2011) DOI:10.3109/13816810.2011.562955 |