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Bleeding disorder due to P2Y12 defect

ORPHA:36355· ICD-10 D69.1

Definition

P2Y12 defect is a rare hemorrhagic disorder 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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood