| H00503 | |
| H number | H00503 |
| Name | Ellis-van Creveld syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06501(H00503) HH signaling |
| Gene | EVC1 [HSA:2121] [KO:K19605] EVC2 [HSA:132884] [KO:K19608] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q77.6 MeSH: D004613 OMIM: 225500 |
| Reference | PMID:17547743 AUTHORS Baujat G, Le Merrer M TITLE Ellis-van Creveld syndrome. JOURNAL Orphanet J Rare Dis 2:27 (2007) DOI:10.1186/1750-1172-2-27 PMID:19876929 AUTHORS Ruiz-Perez VL, Goodship JA TITLE Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. JOURNAL Am J Med Genet C Semin Med Genet 151C:341-51 (2009) DOI:10.1002/ajmg.c.30226 PMID:10700184 AUTHORS 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 TITLE Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. JOURNAL Nat Genet 24:283-6 (2000) DOI:10.1038/73508 |