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alpha-2-plasmin inhibitor deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
Uniprot Description An autosomal recessive disorder resulting in severe hemorrhagic diathesis.
Mondo Term and Equivalent IDs
MONDO:0009883:  alpha-2-plasmin inhibitor deficiency
GARD:0000731: 
MESH:C537777: 
Orphanet:79: 
SCTID:716746003: 
UMLS:C2752081: