Platelet-type bleeding disorder 12
Platelet-type bleeding disorder 12
Definition
An inherited blood coagulation 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.
Also known as BDPLT12, PGHS1 deficiency, platelet COX1 deficiency, platelet cyclooxygenase 1 deficiency — per MONDO