autosomal dominant isolated macrothrombocytopenia 1

A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.

Signs and symptoms

• Macrothrombocytopenia
• Impaired platelet aggregation

Also known as: MACTHC1