Catalog

MYH9 macrothrombocytopenia syndromes

No MMS code

Link to WHO Definition

MYH9 macrothrombocytopenia syndromes – http://id.who.int/icd/entity/109013938

MYH9-related disease is an inherited giant platelet disorder with a complex phenotype characterised by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease.