A spectrum of disorders caused by mutations in the MYH9 gene (OMIM: 160775) and characterized by thrombocytopenia, large platelets, and distinct lleukocyte inclusions (Dohle-like bodies); sensorineural deafness, CATARACTS, and NEPHRITIS may also occur.
Also Known As:
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia; Alport syndrome with macrothrombocytopenia; Autosomal Dominant Myh9 Spectrum Disorders; DFNA17; Deafness, Autosomal Dominant 17; Dohle leukocyte inclusions with giant platelets; Epstein syndrome; Fechtner syndrome; Fechtner's syndrome; MYH9 Gene-Related Autosomal Macrothrombocytopenias; MYH9-Related Disease; MYH9RD; Macrothrombocytopathy, Nephritis, and Deafness; Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions; Macrothrombocytopenia with leukocyte inclusions; May-Hegglin anomaly; Myh9-Related Disorder; Myh9-Related Macrothrombocytopenias; Sebastian platelet syndrome; Sebastian syndrome