Disease association ontology term - MONDO:0018794 - cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Term summary
- ID
- MONDO:0018794
- Name
- cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- Ontology or CV name
- Disease association
- Definition
- An inherited bleeding disorder caused by a variation in the PLA2G4A gene, characterized by impaired arachidonic acid release, leading to markedly reduced thromboxane A2 and eicosanoid production, which causes dysfunctional platelet aggregation and mucocutaneous bleeding. Affected individuals develop early-onset gastrointestinal ulceration with recurrent bleeding, alongside laboratory evidence of impaired collagen-induced aggregation that is rescued by exogenous arachidonic acid. Loss-of-function PLA2G4A variants abolish cPLA2alpha activity in platelets and other cells, and functional studies demonstrate absent AA-dependent eicosanoid synthesis and prolonged bleeding time.
