KEGG   DISEASE: Czech dysplasia
Entry
H02071                      Disease                                
Name
Czech dysplasia
  Supergrp
Type II collagenopathies [DS:H00520]
Description
Czech dysplasia is an autosomal-dominant disorder characterized by an early-onset, progressive spondyloarthropathy with normal stature. Shortness of third and/or fourth toes is a frequently observed clinical feature. Czech dysplasia is caused by a specific missense mutation (R275C) in the COL2A1 gene.
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
    H02071  Czech dysplasia
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
MeSH: C535766
OMIM: 609162
Reference
PMID:17726487
  Authors
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
  Title
Czech dysplasia metatarsal type: another type II collagen disorder.
  Journal
Eur J Hum Genet 15:1269-75 (2007)
DOI:10.1038/sj.ejhg.5201913
Reference
PMID:18553548
  Authors
Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM
  Title
Czech dysplasia: report of a large family and further delineation of the phenotype.
  Journal
Am J Med Genet A 146A:1859-64 (2008)
DOI:10.1002/ajmg.a.32389
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