platelet-type bleeding disorder 12

info · Genetic

A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

Signs and symptoms

Menorrhagia
Intestinal bleeding
Impaired platelet aggregation
Bruising susceptibility
Joint hemorrhage
Epistaxis

Also known as: BDPLT12; PGHS1 deficiency; platelet COX1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency