H01156 | |
H番号 | H01156 |
名称 | STAR 症候群 |
概要 | STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features of this syndrome are a characteristic facial appearance with apparent telecanthus and broad tripartite nasal tip, variable syndactyly of toes 2-5, hypoplastic labia, anal atresia, and urogenital malformations. |
カテゴリ | 先天奇形 |
ネットワーク | - |
病因遺伝子 | FAM58A [HSA:92002] [KO:K23964] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C567475 OMIM: 300707 |
文献 | PMID:18297069 著者 Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J タイトル Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. 雑誌 Nat Genet 40:287-9 (2008) DOI:10.1038/ng.86 |