KEGG   DISEASE: Alpha-2-plasmin inhibitor (a2-PI) deficiency
Entry
H00983                      Disease                                

Name
Alpha-2-plasmin inhibitor (a2-PI) deficiency
Description
Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor of plasminogen, and its deficiency causes a rare bleeding disorder because of increased fibrinolysis.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00983  Alpha-2-plasmin inhibitor (a2-PI) 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
   Fibrinolytic defects
    3B50  Inherited fibrinolytic defects
     H00983  Alpha-2-plasmin inhibitor (a2-PI) deficiency
Related
pathway
hsa04610  Complement and coagulation cascades
Gene
SERPINF2 [HSA:5345] [KO:K03983]
Other DBs
ICD-11: 3B50.0
ICD-10: D68.8
OMIM: 262850
Reference
  Authors
Carpenter SL, Mathew P
  Title
Alpha2-antiplasmin and its deficiency: fibrinolysis out of balance.
  Journal
Haemophilia 14:1250-4 (2008)
DOI:10.1111/j.1365-2516.2008.01766.x
LinkDB

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