Conditions / Other
MYH-9 related disease
info · Other · ICD-10: D69.4
A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.
Signs and symptoms
- Macrothrombocytopenia
- Megakaryocyte dysplasia
- Leukocyte inclusion bodies
- Neutrophil inclusion bodies
- Giant platelets
- Impaired epinephrine-induced platelet aggregation
- Thrombocytopenia
- Impaired ADP-induced platelet aggregation
- Abnormal bleeding
- Menorrhagia