Bleeding diathesis due to thromboxane A2 receptor variants

A bleeding platelet disorder caused by a variation in the TBXA2R gene, which impairs thromboxane A2 receptor signaling and leads to impaired platelet aggregation. Clinical features such as mild mucocutaneous bleeding including epistaxis, easy bruising, and ecchymoses tend to appear only when a second hit further disrupts platelet activation, and this additional impairment may arise from another variant within TBXA2R or from defects in other genes that participate in platelet signaling or the coagulation pathway.