KEGG   DISEASE: Dyssegmental dysplasia
Entry
H02155                      Disease                                
Name
Dyssegmental dysplasia
  Supergrp
Heparan sulfate proteoglycan gene defects [DS:H00493]
Description
The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois type. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. DDSH is caused by a functional null mutation of perlecan gene (HSPG2).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02155  Dyssegmental dysplasia
Gene
HSPG2 [HSA:3339] [KO:K06255]
Other DBs
ICD-11: LD24.3
ICD-10: Q77.7
MeSH: C537998 C537999
OMIM: 224410
Reference
  Authors
Arikawa-Hirasawa E, Wilcox WR, Le AH, Silverman N, Govindraj P, Hassell JR, Yamada Y
  Title
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
  Journal
Nat Genet 27:431-4 (2001)
DOI:10.1038/86941
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