" /> Bleeding disorder, platelet-type, 8 - CISMeF





Preferred Label : Bleeding disorder, platelet-type, 8;

Symbol : BDPLT8;

CISMeF acronym : BDPLT8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder due to p2ry12 defect;

Description : Platelet-type bleeding disorder due to P2RY12 defects is an autosomal recessive condition characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation (review by Cattaneo, 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the purinergic receptor P2Y, G protein-coupled, 12 gene (P2RY12, 600515.0001);

Prefixed ID : #609821;

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25/07/2025


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