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MCID: PHS009
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Phosphoglycerate Kinase Deficiency malady |
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Sources: 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
Genetics Home Reference: Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.17
MalaCards: Phosphoglycerate Kinase Deficiency, also known as phosphoglycerate kinase 1 deficiency, is related to myopathy and hemangioma of lung. An important gene associated with Phosphoglycerate Kinase Deficiency is PGK1 (phosphoglycerate kinase 1), and among its related pathways are Glycolysis and Glycolysis / Gluconeogenesis. The compounds 3-phosphoglycerate and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin. Wikipedia: Phosphoglycerate kinase (EC 2.7.2.3) (PGK) is an enzyme that catalyzes the reversible transfer of a...44 more... OMIM: 300653 |
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Sources: 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 33OMIM, 32Novoseek , 43UMLS See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 300653
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for phosphoglycerate kinase deficiency Drug clinical trials:Search ClinicalTrials for phosphoglycerate kinase deficiency Search NIH Clinical Center for phosphoglycerate kinase deficiency Search CenterWatch for phosphoglycerate kinase deficiency |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to phosphoglycerate kinase deficiency:22Brain, Heart, Skin
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Sources: 35PubMed See all sources |
Articles related to phosphoglycerate kinase deficiency:
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 20KEGG, 10EMD Millipore, 41Thomson Reuters See all sources |
Pathways related to phosphoglycerate kinase deficiency according to GeneDecks:
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Sources: 32Novoseek , 18HMDB, 9DrugBank See all sources |
Compounds related to phosphoglycerate kinase deficiency according to GeneDecks:(show all 17)
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Sources: 12Gene Ontology See all sources |
Cellular components related to phosphoglycerate kinase deficiency according to GeneDecks:
Biological processes related to phosphoglycerate kinase deficiency according to GeneDecks:
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