MYH9-related disease

What is MYH9-related disease?

MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

Other condition names

  • MYH9-RD
  • MYH9-related disorder
  • MYH9-related syndrome
  • MYH9-related syndromic thrombocytopenia

Inheritance type

Autosomal dominant


  • Europe: 1-9 in 1,000 000

Age of Onset

  • Adolescent
  • Adult
  • Childhood
  • Infancy
  • Neonatal
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