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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:

  • MYH9-Related Disease
  • 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
  • Alport syndrome with macrothrombocytopenia
  • Deafness, Autosomal Dominant 17
  • DFNA17

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