MYH9-Related Disorders [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C535507
Heading Mapped to:
Entry Terms:
- Alport syndrome with macrothrombocytopenia
- May-Hegglin anomaly
- Macrothrombocytopenia with leukocyte inclusions
- Dohle leukocyte inclusions with giant platelets
- Fechtner syndrome
- Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions
- Fechtner's syndrome
- Sebastian syndrome
- Sebastian platelet syndrome
- Macrothrombocytopathy, Nephritis, and Deafness
- Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia
- MYH9RD
- MYH9 Gene-Related Autosomal Macrothrombocytopenias
- Myh9-Related Disorder
- Autosomal Dominant Myh9 Spectrum Disorders
- Myh9-Related Macrothrombocytopenias
- Epstein syndrome
- MYH9-Related Disease
- Deafness, Autosomal Dominant 17
- DFNA17