KEGG   DISEASE: Kniest dysplasia
Entry
H02070                      Disease                                

Name
Kniest dysplasia
  Supergrp
Type II collagenopathies [DS:H00520]
Description
Kniest dysplasia is an autosomal dominant chondrodysplasia that results from mutations in the type II collagen gene, COL2A1. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02070  Kniest dysplasia
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
    H02070  Kniest dysplasia
Related
pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL2A1 [HSA:1280] [KO:K19719]
Other DBs
ICD-11: LD24.3
ICD-10: Q77.7
MeSH: C537207
OMIM: 156550
Reference
PMID:7757081
  Authors
Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH
  Title
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
  Journal
Hum Mol Genet 4:285-8 (1995)
DOI:10.1093/hmg/4.2.285
Reference
PMID:7874117
  Authors
Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH
  Title
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
  Journal
Hum Mol Genet 3:1999-2003 (1994)
DOI:10.1093/hmg/3.11.1999

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