P2RY12-related platelet disorder, autosomal dominant

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.