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Genetic and Rare Diseases Information Center (GARD)

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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] 
Last updated: 10/3/2011

References

  1. 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.
  2. Gray Platelet Syndrome, GPS. Online Mendelian Inheritance of Man (OMIM). August 2011; http://omim.org/entry/139090. Accessed 10/3/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.