MYH9-Related Disorders

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

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        MYH9-Related Disorders: 146
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        MYH9-Related Disorders: 146
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        MYH9-Related Disorders: 146
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Cytopenia: 2582
    - Thrombocytopenia: 26776
      - MYH9-Related Disorders: 146
  - Blood Platelet Disorders: 126
    - Thrombocytopenia: 26776
      - MYH9-Related Disorders: 146

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Disease

Drug/Important Bio-Agent (IBA)