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Platelet-type bleeding disorder 8

rare

A platelet type bleeding disorder of autosomal recessive inheritance caused by a variation in the P2RY12 gene, characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.

Causal genes
P2RY12
Also known as
BDPLT8 · bleeding disorder, platelet-type 8 · P2RY12-related platelet disorder, autosomal recessive

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