KEGG   DISEASE: Czech 異形成症
エントリ  
H02071                                                             
名称    
Czech 異形成症
  上位グループ
II 型コラーゲン異常症 [DS:H00520]
概要    
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.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD24  主な特徴として骨格の異常を伴う症候群
    H02071  Czech 異形成症
パスウェイ 
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
病因遺伝子 
COL2A1 [HSA:1280] [KO:K19719]
リンク   
ICD-11: LD24.3
MeSH: C535766
OMIM: 609162
文献    
  著者
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR
  タイトル
Czech dysplasia metatarsal type: another type II collagen disorder.
  雑誌
Eur J Hum Genet 15:1269-75 (2007)
DOI:10.1038/sj.ejhg.5201913
文献    
  著者
Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM
  タイトル
Czech dysplasia: report of a large family and further delineation of the phenotype.
  雑誌
Am J Med Genet A 146A:1859-64 (2008)
DOI:10.1002/ajmg.a.32389
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