KEGG   DISEASE: フォン・ヴィレブランド病
エントリ  
H02092                                                             

名称    
フォン・ヴィレブランド病
  上位グループ
血友病 [DS:H00219]
概要    
Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   Coagulation defects
    Congenital or constitutional haemorrhagic condition
     3B12  Von Willebrand disease
      H02092  フォン・ヴィレブランド病
関連パスウェイ
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
病因遺伝子 
VWF [HSA:7450] [KO:K03900]
治療薬   
乾燥濃縮人血液凝固第VIII因子 [DR:D08798]
ボニコグアルファ [DR:D08681]
リンク   
ICD-11: 3B12
ICD-10: D68.0
MeSH: D014842
OMIM: 193400 613554 277480
文献    
  著者
Von Willebrand EA
  タイトル
Hereditary pseudohaemophilia.
  雑誌
Haemophilia 5:223-31; discussion 222 (1999)
DOI:10.1046/j.1365-2516.1999.00302.x
文献    
  著者
Roberts JC, Flood VH
  タイトル
Laboratory diagnosis of von Willebrand disease.
  雑誌
Int J Lab Hematol 37 Suppl 1:11-7 (2015)
DOI:10.1111/ijlh.12345
文献    
  著者
Lillicrap D
  タイトル
von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.
  雑誌
Blood 122:3735-40 (2013)
DOI:10.1182/blood-2013-06-498303
文献    
  著者
Ng C, Motto DG, Di Paola J
  タイトル
Diagnostic approach to von Willebrand disease.
  雑誌
Blood 125:2029-37 (2015)
DOI:10.1182/blood-2014-08-528398
文献    
PMID:8367445
  著者
Zhang ZP, Blomback M, Nyman D, Anvret M
  タイトル
Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.
  雑誌
Proc Natl Acad Sci U S A 90:7937-40 (1993)
DOI:10.1073/pnas.90.17.7937
文献    
PMID:9569178
  著者
Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F
  タイトル
Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.
  雑誌
Thromb Haemost 79:709-17 (1998)
DOI:10.1055/s-0037-1615050
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