MYH9-related disease

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MYH9-related disease

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 April 2024

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MYH9-related disease?

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Advocacy Organizations

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Clinical Trials

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