thrombophilia due to thrombomodulin defect

A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.

Signs and symptoms

• Hypercoagulability
• Deep venous thrombosis
• Pulmonary embolism

Also known as: THBD-related bleeding disorder; THBD-related coagulopathy; THPH12; thrombomodulin-related bleeding disorder; thrombomodulin-related coagulopathy