KEGG   DISEASE: Osteoarthritis with mild chondrodysplasia
Entry
H00445                      Disease                                
Name
Osteoarthritis with mild chondrodysplasia
  Supergrp
Type II collagenopathies [DS:H00520]
Description
Osteoarthritis with mild chondrodysplasia (OSCDP) is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).
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
    H00445  Osteoarthritis with mild chondrodysplasia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06548  Integrin signaling
   H00445  Osteoarthritis with mild chondrodysplasia
Pathway
hsa04518  Integrin signaling
hsa04510  Focal adhesion
hsa04151  PI3K-Akt signaling pathway
hsa04512  ECM-receptor interaction
Network
nt06548 Integrin signaling
Gene
COL2A1 [HSA:1280] [KO:K19719]
Other DBs
ICD-11: LD24.3
MeSH: C565740
OMIM: 604864
Reference
PMID:11708863
  Authors
Mier RJ, Holderbaum D, Ferguson R, Moskowitz R
  Title
Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1).
  Journal
Mol Genet Metab 74:338-41 (2001)
DOI:10.1006/mgme.2001.3250
Reference
PMID:2300123
  Authors
Knowlton RG, Katzenstein PL, Moskowitz RW, Weaver EJ, Malemud CJ, Pathria MN, Jimenez SA, Prockop DJ
  Title
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.
  Journal
N Engl J Med 322:526-30 (1990)
DOI:10.1056/NEJM199002223220807
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