KEGG   DISEASE: Ehlers-Danlos syndrome dermatosparaxis type
Entry
H02244                      Disease                                
Name
Ehlers-Danlos syndrome dermatosparaxis type;
Ehlers-Danlos syndrome type VIIC
  Supergrp
Ehlers-Danlos syndrome [DS:H00802]
Description
Ehlers-Danlos syndrome dermatosparaxis type (EDSDERMS) is an autosomal recessive connective tissue disorder characterized by an extreme skin fragility. It is resulting from mutations inactivating ADAMTS2, encoding procollagen N-endopeptidase.
Category
Congenital malformation
Brite
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
    H02244  Ehlers-Danlos syndrome dermatosparaxis type
Gene
(EDSDERMS) ADAMTS2 [HSA:9509] [KO:K08618]
Other DBs
ICD-11: LD28.1Y
MeSH: C567527
OMIM: 225410
Reference
PMID:15373769
  Authors
Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV
  Title
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
  Journal
J Invest Dermatol 123:656-63 (2004)
DOI:10.1111/j.0022-202X.2004.23406.x
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