KEGG   DISEASE: Ehlers-Danlos syndrome cardiac valvular type
Entry
H02241                      Disease                                

Name
Ehlers-Danlos syndrome cardiac valvular type
  Supergrp
Ehlers-Danlos syndrome [DS:H00802]
Description
Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H02241  Ehlers-Danlos syndrome cardiac valvular type
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02241  Ehlers-Danlos syndrome cardiac valvular type
Related
pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
Gene
(EDSCV) COL1A2 [HSA:1278] [KO:K06236]
Other DBs
ICD-11: LD28.1Y
ICD-10: Q79.6
MeSH: C536200
OMIM: 225320
Reference
  Authors
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH
  Title
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
  Journal
Am J Hum Genet 74:917-30 (2004)
DOI:10.1086/420794

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