KEGG DISEASE: Weyers acrofacial dysostosis

KEGG

DISEASE: Weyers acrofacial dysostosis

Entry

H02158                      Disease

Name

Weyers acrofacial dysostosis;
Curry-Hall syndrome

Supergrp

Acrofacial dysostosis [DS:H01376]

Description

Weyers acrofacial dysostosis (WAD), also known as Curry-Hall syndrome, is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog signaling.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H02158  Weyers acrofacial dysostosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H02158  Weyers acrofacial dysostosis

Pathway

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW

Title

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Journal

Am J Hum Genet 61:1405-12 (1997)
DOI:10.1086/301643

Reference

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

Reference

Authors

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A

Title

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

Journal

Eur J Med Genet 56:80-7 (2013)
DOI:10.1016/j.ejmg.2012.11.005

LinkDB

» Japanese version

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