/macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Rare Disease

MONDO:0015912

Also Known As

Epstein syndromeFechtner syndromeMYH-9 related diseaseMYH9-RDMYH9-related diseaseMYH9-related disorderMYH9-related syndromeMYH9-related syndromic thrombocytopeniaMay-Hegglin anomalySebastian platelet syndromeSebastian syndromegiant platelet syndrome with thrombocytopeniamacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossmacrothrombocytopenia and progressive sensorineural deafnessAlport syndrome with macrothrombocytopeniaAlport syndrome with macrothrombocytopenia, formerlyBrodie Chole griffin syndromeBrodie Chole gryphon syndromeDohle leukocyte inclusions with giant plateletsFTNSMHAMYH9 related disordersMYH9 related thrombocytopeniaMay-Hegglin thrombocytopeniaSBSbleeding disorder, Platelet-type, 6macrothrombocytopenia progressive deafnessmacrothrombocytopenia with dispersed leukocytic inclusionsmacrothrombocytopenia with leukocyte inclusionsmacrothrombocytopenia, nephritis, and deafnessmacrothrombocytopenia, nephritis, deafness, and leukocyte inclusionsmatins

Definition

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.