cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
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.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0005020
intestinal disorder
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
GURDP
related
PLA2G4A-related platelet dysfunction
exact
PLA2G4A-related platelet dysfunction with gastrointestinal ulceration
exact
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
exact
platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
exact
SPCC1450.09c SPAC1786.02 SPAC1A6.03c SPAC1A6.04c SPBC1348.10c SPAC977.09c