P2RY12-related platelet disorder, autosomal dominant
Findings
No curated finding names P2RY12-related platelet disorder, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A platelet type bleeding disorder of autosomal dominant inheritance caused by a variation in the P2RY12 gene that exerts a dominant negative effect by disrupting receptor homodimerization, leading to markedly impaired adenosine diphosphate induced platelet aggregation despite normal receptor expression. Affected individuals may exhibit severe bleeding symptoms due to defective amplification of platelet activation signals.
Definition from the Mondo Disease Ontology (MONDO:1060234), read 2026-09-29. CC BY 4.0.
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.
- P2RY12HGNC:18124
- Moderate · ClinGen · Autosomal dominant · 2025