Scott syndrome

A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12.

Signs and symptoms

• Abnormal bleeding
• Factor X activation deficiency

Also known as: BDPLT7; SCTS; bleeding abnormality due to deficiency of platelet biding of factor X; familial prothrombin consumption inhibitor; familial prothrombin conversion defect