MYH9 related thrombocytopenia

Epstein syndrome, Fechtner syndrome, May-hegglin anomaly, Sebastian syndrome

Overview

Type of disease: Rare conditions

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

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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