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Gray platelet syndrome
Other Names for this Disease
- GPS
- Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins
- Platelet alpha-granule deficiency
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Overview
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe 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.[1][2]
References
- Gunay-Aygun M & Gahl WA. Gray platelet syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=721. Accessed October 3, 2011.
- Gray Platelet Syndrome, GPS. Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/139090. Accessed October 3, 2011.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Gray platelet syndrome. Click on the link to go to OMIM and review these resources.