Gray platelet syndrome
Other Names for this Disease
- Platelet alpha-granule deficiency
- Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
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thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner.Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe
Last updated: 10/3/2011
- Gunay-Aygun M & Gahl WA. Gray platelet syndrome. Orphanet. June 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=721. Accessed 10/3/2011.
- Gray Platelet Syndrome, GPS. Online Mendelian Inheritance of Man (OMIM). August 2011; http://omim.org/entry/139090. Accessed 10/3/2011.
- Genetics Home Reference (GHR) contains information on Gray platelet syndrome. This website is maintained by the National Library of Medicine.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Gray platelet syndrome. Click on the link to view a sample search on this topic.