primary glomerular disease MYH-9 related disease DOID:0060651 Epstein syndrome Fechtner syndrome GARD:0000180 ICD10:D69.4 ICD9:287.33 MONDO:0015912 MYH9 related disorders MYH9 related thrombocytopenia MYH9-RD MYH9-related disease 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). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. MYH9-related disorder MYH9-related syndrome MYH9-related syndromic thrombocytopenia May-Hegglin anomaly Orphanet:182050 SCTID:712922002 Sebastian platelet syndrome Sebastian syndrome https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia syndromic constitutional thrombocytopenia