MYH9-related disease

^ http://www.orpha.net/ORDO/Orphanet_182050

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.

Synonyms: MYH9-RD, MYH9-related syndrome, MYH9-related disorder, MYH9-related syndromic thrombocytopenia

Term info

database cross reference
  • OMIM:600208 (BTNT (broader term maps to a narrower term))
  • UMLS:C1854520 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:D69.4 (NTBT (narrower term maps to a broader term))
  • ICD-10:D69.4 (Attributed)

ICD-10:D69.4, UMLS:C1854520, OMIM:600208