MeSH Browser

MeSH Supplementary: MYH9-Related Disorders
Unique ID: C535507
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535507
Entry Term(s): 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
Registry Numbers: 0
Heading Mapped to: *Hearing Loss, Sensorineural; Thrombocytopenia / congenital
Frequency: 138
Note: 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.
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

MYH9-Related Disorders MeSH Supplementary Concept Data 2025