KEGG DISEASE: Ellis-van Creveld syndrome

KEGG

DISEASE: Ellis-van Creveld syndrome

Entry

H00503                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00503  Ellis-van Creveld syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06501  HH signaling
   H00503  Ellis-van Creveld syndrome

Pathway

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

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

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

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

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

LinkDB

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