KEGG   DISEASE: 先天性第XII因子欠乏症
エントリ  
H00941                                                             
名称    
先天性第XII因子欠乏症
概要    
Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  凝固障害, 紫斑病またはその他の出血性または関連病状
   凝固障害
    先天性または体質性出血病状
     3B15  出血傾向を伴わない遺伝性凝固因子欠乏症
      H00941  先天性第XII因子欠乏症
パスウェイに基づく疾患分類 [BR:jp08402]
 免疫系
  nt06514  凝固カスケード
   H00941  先天性第XII因子欠乏症
パスウェイ 
hsa04610  Complement and coagulation cascades
ネットワーク
nt06514 Coagulation cascade
病因遺伝子 
F12 [HSA:2161] [KO:K01328]
リンク   
ICD-11: 3B15
MeSH: D005175
OMIM: 234000
文献    
  著者
Stavrou E, Schmaier AH
  タイトル
Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis.
  雑誌
Thromb Res 125:210-5 (2010)
DOI:10.1016/j.thromres.2009.11.028
文献    
  著者
D'Uva M, Strina I, Mollo A, Ranieri A, De Placido G, Di Micco P
  タイトル
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case.
  雑誌
J Transl Med 3:43 (2005)
DOI:10.1186/1479-5876-3-43
文献    
  著者
Matsubayashi H, Sugi T, Suzuki T, Uchida N, Atsumi H, Izumi S, Mikami M
  タイトル
Decreased factor XII activity is associated with recurrent IVF-ET failure.
  雑誌
Am J Reprod Immunol 59:316-22 (2008)
DOI:10.1111/j.1600-0897.2007.00564.x
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