KEGG DISEASE: Anonychia congenita

DISEASE: Anonychia congenita

Entry

H00683                      Disease

Name

Anonychia congenita

Supergrp

Nonsyndromic congenital nail disorder [DS:H01307]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC22  Genetic defects of nails or nail growth
    H00683  Anonychia congenita

Gene

RSPO4 [HSA:343637] [KO:K23099]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

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

Reference

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

LinkDB

» Japanese version

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