MYH9 related thrombocytopenia
Other Names for this Disease
- Alport syndrome with leukocyte inclusions and macrothrombocytopenia
- Alport syndrome with macrothrombocytopenia
- Epstein syndrome
- Fechtner syndrome
- Macrothrombocytopenia with leukocyte inclusions
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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.MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the
The following conditions, once thought to be separate, are now known to be part of MYH9RD.
Last updated: 1/22/2014
- Savoia A, Balduini CL. MYH9-Related Disorders. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK2689/. Accessed 4/11/2012.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- Medscape Reference has information on May-Hegglin anomaly which includes information on other MYH9-related thrombocytopenias. You may need to register to view this medical reference, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss MYH9 related thrombocytopenia. Click on the link to view a sample search on this topic.