x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:182050

  • 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: 600208
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.