MYH9 related thrombocytopenia
Other Names for this Disease
- MYH9 related disorders
- Sebastian syndrome
- May-Hegglin anomaly
- Fechtner syndrome
- Epstein syndrome
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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 MYH9 related thrombocytopenia. 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.