KEGG   DISEASE: Pseudoachondroplasia
Entry
H00477                      Disease                                
Name
Pseudoachondroplasia
  Supergrp
Spondyloepiphyseal dysplasia [DS:H02462]
Description
Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP.
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
    H00477  Pseudoachondroplasia
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COMP [HSA:1311] [KO:K04659]
Other DBs
ICD-11: LD24.60
ICD-10: Q77.8
MeSH: C535819
OMIM: 177170
Reference
PMID:11891674
  Authors
Unger S, Hecht JT
  Title
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
  Journal
Am J Med Genet 106:244-50 (2001)
DOI:10.1002/ajmg.10234
Reference
PMID:15094116
  Authors
Posey KL, Hayes E, Haynes R, Hecht JT
  Title
Role of TSP-5/COMP in pseudoachondroplasia.
  Journal
Int J Biochem Cell Biol 36:1005-12 (2004)
DOI:10.1016/j.biocel.2004.01.011

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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