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MYH9-related disease

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • MYH9-RD
    • MYH9-related disorder
    • MYH9-related syndrome
    • MYH9-related syndromic thrombocytopenia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: D69.4
  • OMIM: 155100
  • UMLS: C1854520
  • MeSH: -
  • GARD: 180
  • MedDRA: -

Detailed information


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