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MYH9-related disorder
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

MYH9-related disorder

MYH9-related disorder is a genetic condition characterized by bleeding problems, hearing loss, kidney disease, and eye abnormalities.

Overview

MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes. This condition was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.

Symptoms

Not everyone with MYH9-related disorder has all of the major features, but all affected individuals have thrombocytopenia (a reduced level of circulating platelets) and enlarged platelets. Common symptoms include:

  • Easy bruising and excessive bleeding during menstruation (menorrhagia).
  • Sensorineural hearing loss, which may be present from birth or develop into late adulthood.
  • Renal disease, typically beginning in early adulthood, which can lead to kidney failure and end-stage renal disease (ESRD).
  • Cataracts, which may develop in early adulthood and worsen over time.

Causes

The disorder is caused by mutations in the MYH9 gene, which provides instructions for making a protein called myosin-9. This protein is a subunit of the myosin IIA protein, which plays a role in cell movement, maintenance of cell shape, and cytokinesis. In affected individuals, the nonfunctional protein cannot properly interact with other subunits. Platelets and leukocytes (white blood cells) are most affected by this lack of functional myosin-9. In leukocytes, the nonfunctional protein clumps together to form inclusion bodies, which are a hallmark of the condition.

Inheritance

This condition is inherited in an autosomal dominant pattern. In most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Frequently Asked Questions

MYH9‑related disorder is autosomal dominant, so each child has a 50 % chance of inheriting the pathogenic variant. Testing of at‑risk relatives can be done with a targeted DNA test for the known family mutation. Early diagnosis allows monitoring for kidney, hearing, and ocular complications before symptoms develop.
dults with MYH9‑related disorder should have serum creatinine and urine protein checked at least every 6–12 months, with more frequent testing if proteinuria appears. Audiology should be performed annually, or sooner if you notice changes, using pure‑tone audiometry to track sensorineural loss and guide hearing‑aid fitting.
definitive diagnosis requires genetic testing for MYH9 mutations and a peripheral blood smear that shows characteristic large platelets and Döhle‑like inclusion bodies in neutrophils. Your hematologist can order these studies and also rule out other causes (immune thrombocytopenia, medication effects, bone‑marrow disorders) based on history, additional labs, and bone‑marrow evaluation if needed.
Inform your surgeon and anesthesiologist about the diagnosis. Pre‑operative platelet transfusion can raise platelet counts temporarily, and desmopressin (DDAVP) may improve platelet function in some patients. Your hematologist may also prescribe antifibrinolytics (e.g., tranexamic acid) around the procedure. Close intra‑operative monitoring and post‑op wound care are essential.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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