MYH9 related thrombocytopenia

Disease Overview

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.[1378] 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

Synonyms

• MYH9 related disorders
• Sebastian syndrome (subtype)
• May-Hegglin anomaly (subtype)
• Fechtner syndrome (subtype)
• Epstein syndrome (subtype)
• MYH9-RD
• MYH9-related disease
• MYH9-related disorder
• MYH9-related syndrome
• MYH9-related syndromic thrombocytopenia
• Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss