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GPS
MCID: GRY002
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Gray Platelet Syndrome malady |
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Sources: 30NIH Rare Diseases, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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. 30
MalaCards: Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome and von willebrand's disease. An important gene associated with Gray Platelet Syndrome is NBEAL2 (neurobeachin-like 2), and among its related pathways are Platelet Aggregation (Plug Formation) and Hematopoietic cell lineage. The compounds alizarin and estrogen have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and hematopoietic system. Wikipedia: Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding...44 more... |
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Sources: 30NIH Rare Diseases, 16GeneTests, 32Novoseek , 43UMLS See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for gray platelet syndrome Drug clinical trials:Search ClinicalTrials for gray platelet syndrome Search NIH Clinical Center for gray platelet syndrome Search CenterWatch for gray platelet syndrome |
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Sources: 16GeneTests See all sources |
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Sources: 25MGI See all sources |
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Sources: 35PubMed See all sources |
Articles related to gray platelet syndrome:
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 20KEGG, 37R&D Systems, 34PharmGKB See all sources |
Pathways related to gray platelet syndrome according to GeneDecks:
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Sources: 32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to gray platelet syndrome according to GeneDecks:(show all 29)
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Sources: 12Gene Ontology See all sources |
Cellular components related to gray platelet syndrome according to GeneDecks:
Biological processes related to gray platelet syndrome according to GeneDecks:(show all 8)
Molecular functions related to gray platelet syndrome according to GeneDecks:
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