Conditions / Genetic

platelet-type bleeding disorder 8

info · Genetic · ICD-10: D69.8

A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.

Signs and symptoms

  • Abnormal bleeding
  • Ecchymosis
  • Bruising susceptibility
  • Persistent bleeding after trauma
  • Prolonged bleeding after surgery
  • Epistaxis
  • Impaired ADP-induced platelet aggregation

Also known as: ADP platelet receptor P2Y12 defect; P2Y12 defect