| H00449 | |
| H番号 | H00449 |
| 名称 | 眼歯指異形成症 |
| 概要 | Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fashion. ODDD is caused by mutations in the gap junction alpha 1 gene. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | GJA1 [HSA:2697] [KO:K07372] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C563160 OMIM: 164200 257850 |
| 文献 | PMID:15512999 著者 Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ タイトル Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. 雑誌 Ophthalmic Genet 25:227-36 (2004) DOI:10.1080/13816810490513424 PMID:19338053 著者 Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW タイトル GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 雑誌 Hum Mutat 30:724-33 (2009) DOI:10.1002/humu.20958 |