KEGG   DISEASE: 短指を伴う家族性指関節症
エントリ  
H02062                                                             
名称    
短指を伴う家族性指関節症
概要    
Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.
カテゴリ  
筋骨格疾患
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
    H02062  短指を伴う家族性指関節症
病因遺伝子 
TRPV4 [HSA:59341] [KO:K04973]
リンク   
ICD-11: LD24.8Y
OMIM: 606835
文献    
  著者
Lamande SR, Yuan Y, Gresshoff IL, Rowley L, Belluoccio D, Kaluarachchi K, Little CB, Botzenhart E, Zerres K, Amor DJ, Cole WG, Savarirayan R, McIntyre P, Bateman JF
  タイトル
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
  雑誌
Nat Genet 43:1142-6 (2011)
DOI:10.1038/ng.945
LinkDB    

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