| H00503 | |
| H番号 | H00503 |
| 名称 | Ellis-van Creveld 症候群 |
| 概要 | Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06501(H00503) HH signaling |
| 病因遺伝子 | EVC1 [HSA:2121] [KO:K19605] EVC2 [HSA:132884] [KO:K19608] |
| 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: Q77.6 MeSH: D004613 OMIM: 225500 |
| 文献 | PMID:17547743 著者 Baujat G, Le Merrer M タイトル Ellis-van Creveld syndrome. 雑誌 Orphanet J Rare Dis 2:27 (2007) DOI:10.1186/1750-1172-2-27 PMID:19876929 著者 Ruiz-Perez VL, Goodship JA タイトル Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 雑誌 Am J Med Genet C Semin Med Genet 151C:341-51 (2009) DOI:10.1002/ajmg.c.30226 PMID:10700184 著者 Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J タイトル Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 雑誌 Nat Genet 24:283-6 (2000) DOI:10.1038/73508 |