A rare congenital haemorrhagic disorder characterised by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative haemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3440816012
Defect of purinergic receptor p2y G protein-coupled 12
Active
Synonym
false
false
3440817015
ADP platelet receptor P2Y12 defect
Active
Synonym
false
false
3440818013
P2Y12 (purinergic receptor p2y G protein-coupled 12) defect