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P2Y12 defect

Disease 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.

ORPHA:36355

  • Synonym(s):
    • ADP platelet receptor P2Y12 defect
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D69.8
  • OMIM: 609821
  • UMLS: C1853278
  • MeSH: -
  • GARD: 12478
  • MedDRA: -

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