MCID: GLC009

Glucosephosphate Dehydrogenase Deficiency malady

Summaries for Glucosephosphate Dehydrogenase Deficiency

Sources:
6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 22MalaCards
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NIH Rare Diseases: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene.30

MalaCards: Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to hemolytic anemia and color blindness. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is LY6G6D (lymphocyte antigen 6 complex, locus G6D), and among its related pathways are Pentose Phosphate Pathway (Erythrocyte) and Glutathione metabolism. The compounds 6-phosphogluconolactone and 6-aminonicotinamide have been mentioned in the context of this disorder. Affiliated tissues include whole blood, lung and t cells.

Disease Ontology: A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated g6pd or g6pdh).6

Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs most often in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.17

Wikipedia: Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary disease characterised...44 more...

Aliases & Descriptions for Glucosephosphate Dehydrogenase Deficiency

Sources:
6Disease Ontology, 8DISEASES, 43UMLS, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 7diseasecard, 44Wikipedia, 33OMIM, 32Novoseek , 24MeSH
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Aliases & Descriptions:

glucosephosphate dehydrogenase deficiency 6 8 43
g6pd deficiency 7 44 30 16 17 33 32
glucose-6-phosphate dehydrogenase deficiency 6 30 16 17
deficiency of glucose-6-phosphate dehydrogenase 17 43
hemolytic anemia due to g6pd deficiency 30
deficiency of g-6pd 6
malnutrition 43
g6pdd 17

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Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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13GeneCards, 14GeneDecks
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Graphical network of the top 20 diseases related to glucosephosphate dehydrogenase deficiency:



Graphical network of diseases related to glucosephosphate dehydrogenase deficiency

Clinical Features for Glucosephosphate Dehydrogenase Deficiency

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for glucosephosphate dehydrogenase deficiency

Drug clinical trials:

Search ClinicalTrials for glucosephosphate dehydrogenase deficiency

Search NIH Clinical Center for glucosephosphate dehydrogenase deficiency

Search CenterWatch for glucosephosphate dehydrogenase deficiency

Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

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16GeneTests
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Genetic tests related to glucosephosphate dehydrogenase deficiency:

id Genetic test Affiliating Genes
1 Glucosephosphate Dehydrogenase Deficiency
clinical/research
G6PD

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

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22MalaCards
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MalaCards organs/tissues related to glucosephosphate dehydrogenase deficiency:

22
Whole blood, Lung, T cells

Phenotypes for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Publications for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Expression for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Pathways for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
34PharmGKB, 20KEGG, 38Reactome
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Pathways related to glucosephosphate dehydrogenase deficiency according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Pentose Phosphate Pathway (Erythrocyte)349.0G6PD, PGD
2Glutathione metabolism209.0G6PD, PGD
3Pentose phosphate pathway208.9G6PD, PGD
4Metabolism388.7G6PD, PGD

Compounds for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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32Novoseek , 18HMDB, 9DrugBank
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Compounds related to glucosephosphate dehydrogenase deficiency according to GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
16-phosphogluconolactone32 9.4G6PD, PGD
26-aminonicotinamide32 9.4G6PD, PGD
33alpha-hydroxysteroid32 9.4PGD, G6PD
4dehydroascorbic acid32 9.4G6PD, PGD
5prpp32 9.3G6PD, PGD
66-phosphogluconate32 9.3PGD, G6PD
7nadp+32 9.3G6PD, PGD
8gssg32 9.3G6PD, PGD
9cellulose acetate32 9.3PGD, G6PD
10isocitrate32 9.3G6PD, PGD
11phenol32 18 10.3PGD, G6PD
12hypoxanthine32 9 18 9 12.3G6PD, PGD
13glycerol 3-phosphate32 18 10.2G6PD, PGD
14malate32 9.2PGD, G6PD
15malondialdehyde32 9.2G6PD, PGD
16glucose 6-phosphate32 18 10.1PGD, G6PD
17nad+32 9.1G6PD, PGD
18citrate32 9.0G6PD, PGD
19ascorbic acid32 18 10.0G6PD, PGD
20glyceraldehyde 3-phosphate32 8.9PGD, G6PD
21pyruvate32 8.7G6PD, PGD

GO Terms for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
12Gene Ontology
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Biological processes related to glucosephosphate dehydrogenase deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pentose biosynthetic processGO:0193229.0G6PD, PGD
2oxidation-reduction processGO:0551149.0G6PD, PGD
3pentose-phosphate shunt, oxidative branchGO:0090518.9G6PD, PGD
4pentose-phosphate shuntGO:0060988.7G6PD, PGD

Molecular functions related to glucosephosphate dehydrogenase deficiency according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:0506619.0G6PD, PGD

Sources for Glucosephosphate Dehydrogenase Deficiency

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS