cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Findings
No curated finding names cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018794), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating icosanoid concentrationHPOHP:0030361
- Decreased circulating 12-HETEHPOHP:0032575
- Decreased serum thromboxane B2HPOHP:0032244
- Duodenal ulcerHPOHP:0002588
- Esophageal ulcerationHPOHP:0004791
- Gastric ulcerHPOHP:0002592
- Impaired platelet aggregationHPOHP:0003540
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLA2G4AHGNC:9035
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
3 names
Resolves to: cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- Also called
- PLA2G4A-related platelet dysfunctionPLA2G4A-related platelet dysfunction with gastrointestinal ulcerationplatelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency