| H01156 | |
| H number | H01156 |
| Name | STAR syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FAM58A [HSA:92002] [KO:K23964] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C567475 OMIM: 300707 |
| Reference | PMID:18297069 AUTHORS 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 TITLE Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. JOURNAL Nat Genet 40:287-9 (2008) DOI:10.1038/ng.86 |