KEGG   DISEASE: Weyers acrodental dysostosisHelp
Entry
H02158                      Disease                                

Name
Weyers acrodental dysostosis;
Curry-Hall syndrome
Description
Weyers acrofacial dysostosis, 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 [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02158  Weyers acrodental dysostosis
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 acrodental dysostosis
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
Other DBs
ICD-11: LD25.2
ICD-10: Q75.4
MeSH: C536695
OMIM: 193530
Reference
PMID:9399901
  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

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