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Alpha-2-plasmin inhibitor deficiency
rareCongenital 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.
- Identifiers
- MONDO:0009883 OMIM:262850Orphanet:79
- Causal genes
- SERPINF2
- Also known as
- anti-plasmin deficiency, congenital · antiplasmin deficiency, congenital · plasmin inhibitor deficiency
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