MYH9 related thrombocytopenia

Common Name(s)

MYH9 related thrombocytopenia, Epstein syndrome, Fechtner syndrome, May-hegglin anomaly, Sebastian syndrome

MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition. This condition is inherited in an autosomal dominant fashion.  

The following conditions, once thought to be separate, are now known to be part of MYH9RD.

Epstein syndrome
Fechtner syndrome
May-Hegglin anomaly
Sebastian syndrome

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "MYH9 related thrombocytopenia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia
 

Status: Recruiting

Condition Summary: May-Hemalin; Fechtner Syndrome (Disorder); Epstein Syndrome (Disorder); MYH9 Related Disorders

 

Last Updated: 2 Sep 2013

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