KEGG   DISEASE: Ehlers-Danlos syndrome arthrochalasia type
Entry
H02243                      Disease                                

Name
Ehlers-Danlos syndrome arthrochalasia type
  Subgroup
Ehlers-Danlos syndrome VIIA
Ehlers-Danlos syndrome VIIB
  Supergrp
Ehlers-Danlos syndrome [DS:H00802]
Description
Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H02243  Ehlers-Danlos syndrome arthrochalasia 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
    H02243  Ehlers-Danlos syndrome arthrochalasia type
Related
pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04926  Relaxin signaling pathway
hsa04611  Platelet activation
Gene
(EDSARTH1) COL1A1 [HSA:1277] [KO:K06236]
(EDSARTH2) COL1A2 [HSA:1278] [KO:K06236]
Other DBs
ICD-11: LD28.1Y
ICD-10: Q79.6
MeSH: C562625
OMIM: 130060 617821
Reference
  Authors
Giunta C, Chambaz C, Pedemonte M, Scapolan S, Steinmann B
  Title
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
  Journal
Am J Med Genet A 146A:1341-6 (2008)
DOI:10.1002/ajmg.a.32213

» Japanese version

DBGET integrated database retrieval system