MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized 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 (ESRD). The disease is MYH9-related disease (Orphanet_182050). Also known as: MYH9-RD, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia.