| H00683 | |
| H number | H00683 |
| Name | Anonychia congenita |
| Description | Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified. |
| Category | Congenital malformation |
| Network | - |
| Gene | RSPO4 [HSA:343637] [KO:K23099] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC22.0 ICD-10: Q84.3 MeSH: C536377 OMIM: 206800 |
| Reference | PMID:14126263 AUTHORS LITTMAN A, LEVIN S TITLE ANONYCHIA AS A RECESSIVE AUTOSOMAL TRAIT IN MAN. JOURNAL J Invest Dermatol 42:177-8 (1964) DOI:10.1038/jid.1964.37 PMID:12121551 AUTHORS Al Hawsawi K, Al Aboud K, Alfadley A, Al Aboud D TITLE Anonychia congenita totalis: a case report and review of the literature. JOURNAL Int J Dermatol 41:397-9 (2002) DOI:10.1046/j.1365-4362.2002.01535_1.x PMID:17186469 AUTHORS Bergmann C, Senderek J, Anhuf D, Thiel CT, Ekici AB, Poblete-Gutierrez P, van Steensel M, Seelow D, Nurnberg G, Schild HH, Nurnberg P, Reis A, Frank J, Zerres K TITLE Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. JOURNAL Am J Hum Genet 79:1105-9 (2006) DOI:10.1086/509789 |