KEGG   DISEASE: 先天性第XIII因子欠乏症
エントリ  
H00945                                                             

名称    
先天性第XIII因子欠乏症
概要    
Factor XIII deficiency is a rare autosomal recessive disorder characterized by defective cross-linking of fibrin and poor resistance to fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and two non-catalytic B subunits. Symptoms that are almost pathognomonic for A subunit deficiency are umbilical bleeding in the neonatal period and repeated fetal wastage in pregnant females.
カテゴリ  
血液疾患
階層分類  
ヒト疾患 [BR:jp08402]
 循環器系疾患
  血液疾患
   H00945  先天性第XIII因子欠乏症
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
     3B14  出血傾向を伴うその他の遺伝性凝固因子欠乏症
      H00945  先天性第XIII因子欠乏症
関連パスウェイ
hsa04610  Complement and coagulation cascades
病因遺伝子 
F13A1 [HSA:2162] [KO:K03917]
F13B [HSA:2165] [KO:K03906]
治療薬   
乾燥濃縮人血液凝固第XIII因子 [DR:D08802]
カトリデカコグ [DR:D10532]
リンク   
ICD-11: 3B14.Z
ICD-10: D68.2
OMIM: 613225 613235
文献    
  著者
Hsieh L, Nugent D
  タイトル
Factor XIII deficiency.
  雑誌
Haemophilia 14:1190-200 (2008)
DOI:10.1111/j.1365-2516.2008.01857.x
文献    
PMID:9028951
  著者
Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A
  タイトル
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
  雑誌
Blood 89:1279-87 (1997)
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