KEGG   DISEASE: Congenital prothrombin deficiency
Entry
H01254                      Disease                                
Name
Congenital prothrombin deficiency
Description
Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01254  Congenital prothrombin deficiency
Human diseases in ICD-11 classification [BR:br08403]
 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
     3B14  Other inherited coagulation factor deficiency with bleeding tendency
      H01254  Congenital prothrombin deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Network
nt06514  Coagulation cascade
Gene
F2 [HSA:2147] [KO:K01313]
Other DBs
ICD-11: 3B14
ICD-10: D68
OMIM: 613679
Reference
  Authors
Meeks SL, Abshire TC
  Title
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment.
  Journal
Haemophilia 14:1159-63 (2008)
DOI:10.1111/j.1365-2516.2008.01832.x
Reference
  Authors
Pasmant E, Dumont B, Lacapere JJ, Dautzenberg MD, Bezeaud A
  Title
A severe neonatal presentation of factor II deficiency.
  Journal
Eur J Haematol 87:464-6 (2011)
DOI:10.1111/j.1600-0609.2011.01670.x
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