MYH9-related disease

Get in touch with RARE Concierge.

Contact RARE Concierge

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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

Newly diagnosed with
MYH9-related disease?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.