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 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
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H00983 Alpha-2-plasmin inhibitor (a2-PI) deficiency
