KEGG   DISEASE: 家族性離断性骨軟骨炎
エントリ  
H00448                                                             
名称    
家族性離断性骨軟骨炎
概要    
Osteochondritis dissecans is defined as a separation of articular cartilage and subchondral bone from the joint surface, affecting the knee, ankle and elbow joints. The disease is caused by heterozygous missense mutation in Aggrecan (ACAN) which is a major cartilage component.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB82  軟骨変性症
    H00448  家族性離断性骨軟骨炎
病因遺伝子 
ACAN [HSA:176] [KO:K06792]
リンク   
ICD-11: FB82.1
MeSH: D010008
OMIM: 165800
文献    
PMID:18226555
  著者
Stattin EL, Tegner Y, Domellof M, Dahl N
  タイトル
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
  雑誌
Osteoarthritis Cartilage 16:890-6 (2008)
DOI:10.1016/j.joca.2007.11.009
文献    
PMID:20137779
  著者
Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A
  タイトル
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
  雑誌
Am J Hum Genet 86:126-37 (2010)
DOI:10.1016/j.ajhg.2009.12.018
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