MCID: GLC009
MIFTS: 41

Glucosephosphate Dehydrogenase Deficiency malady

Summaries for Glucosephosphate Dehydrogenase Deficiency

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 Glucose-6-phosphate dehydrogenase (g6pd) deficiency is a genetic disorder that is most common in males. about 1 in 10 african american males in the united states has it. g6pd deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. the most common medical problem it can cause is hemolytic anemia. that happens when red blood cells are destroyed faster than the body can replace them. if you have g6pd deficiency, you may not have symptoms. symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. they may include paleness jaundice dark urine fatigue shortness of breath enlarged spleen rapid heart rate a blood test can tell if you have it. treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. nih: national library of medicine

MalaCards: Glucosephosphate Dehydrogenase Deficiency, also known as glucose-6-phosphate dehydrogenase deficiency, is related to deficiency anemia and thalassemia. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is G6PD (glucose-6-phosphate dehydrogenase), and among its related pathways are Pentose phosphate pathway and Pentose phosphate pathway (hexose monophosphate shunt). The compounds glucose 6-phosphate and 6-phosphogluconolactone have been mentioned in the context of this disorder.

Disease Ontology:8 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated g6pd or g6pdh).

Genetics Home Reference:21 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.

NIH Rare Diseases:43 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. last updated: 10/11/2011

Wikipedia:64 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked recessive hereditary... more...

Description from OMIM:47 305900,300908

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 64Wikipedia, 45Novoseek, 34MedlinePlus, 47OMIM, 35MeSH
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Aliases & Descriptions:

glucosephosphate dehydrogenase deficiency 8 10 61
glucose-6-phosphate dehydrogenase deficiency 8 43 20 22 21
g6pd deficiency 64 43 21 45 34
deficiency of glucose-6-phosphate dehydrogenase 21 61
hemolytic anemia due to g6pd deficiency 43 47
glucose 6 phosphate dehydrogenase deficiency 21
deficiency of g-6pd 8
g6pdd 21


External Ids:

Disease Ontology8 DOID:2862
MeSH35 D005955
OMIM47 305900

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Glucosephosphate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1deficiency anemia31.2HP, GSR, PKLR, G6PD, HPR, PGD
2thalassemia31.0G6PD
3hepatitis c31.0HP, GSR
4sickle cell disease31.0G6PD, HP
5viral hepatitis30.8G6PD
6methemoglobinemia30.8HP, GSR, G6PD
7congenital nonspherocytic hemolytic anemia30.7G6PD, PKLR
8beta thalassemia30.7G6PD, GSR
9pyruvate kinase deficiency30.6G6PD, PKLR
10sickle cell anemia30.6G6PD, HP
11cerebral malaria30.5G6PD, HP
12autoimmune hemolytic anemia30.5HP, HPR, G6PD
13favism30.4HP, G6PD
14plasmodium falciparum malaria30.3GSR, HP, G6PD
15blackwater fever30.2G6PD
16wilson disease30.2G6PD
17tuberculosis30.2HPR, HP, GSR
18hepatitis d10.8
19hepatitis a10.7
20t cell deficiency10.7
21gilbert syndrome10.7
22kernicterus10.7
23b cell deficiency10.6
24n syndrome10.6
25acute pancreatitis10.4
26hepatitis c virus10.4
27diabetic ketoacidosis10.3
28priapism10.3
29central retinal vein occlusion10.3
30spotted fever10.3
31toxoplasmosis10.3
32malaria, severe10.2
33congenital methemoglobinemia10.2
34hemoglobin d disease10.2
35hemoglobin e disease10.2
36hemoglobin c disease10.2
37chediak-higashi syndrome10.2
38pulmonary tuberculosis10.2
39hypohidrotic ectodermal dysplasia10.2
40chronic granulomatous disease10.2
41eclampsia10.2
42congenital hypothyroidism10.2
43hepatitis e10.2
44dengue hemorrhagic fever10.2
45artemis deficiency10.2
46osteoarthritis10.2
47hereditary elliptocytosis10.2
48congenital adrenal hyperplasia10.2
49alpha thalassemia10.2
50plasmodium vivax malaria10.2

Graphical network of the top 20 diseases related to Glucosephosphate Dehydrogenase Deficiency:



Diseases related to glucosephosphate dehydrogenase deficiency

Clinical Features for Glucosephosphate Dehydrogenase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

305900,300908

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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20GeneTests, 22GTR
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Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Glucose-6-phosphate Dehydrogenase Deficiency20 G6PD
2 Glucose 6 Phosphate Dehydrogenase Deficiency22

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

Animal Models for Glucosephosphate Dehydrogenase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glucosephosphate Dehydrogenase Deficiency

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51PubMed
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Articles related to Glucosephosphate Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. (12737943)
2003

Genetic Variations for Glucosephosphate Dehydrogenase Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

63
id Symbol AA change Variation SNP ID
1G6PDp.Arg198ProVAR_002475
2G6PDp.Arg387CysVAR_002498
3G6PDp.Val394LeuVAR_002500
4G6PDp.Gly410AspVAR_002504
5G6PDp.Arg439ProVAR_002506

Expression for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Search GEO for disease gene expression data for Glucosephosphate Dehydrogenase Deficiency.

Pathways for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 12EMD Millipore
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Pathways related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PGD, G6PD
2
Hide members
9.8PGD, G6PD
3
Hide members
9.8PGD, G6PD
4
Hide members
9.5PGD, PKLR, G6PD
5
Hide members
9.5G6PD, PKLR, PGD
6
Glutathione metabolism
Hide members
9.4GSR, PGD, G6PD

Compounds for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 2BitterDB
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Compounds related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate45 2411.3G6PD, PGD
26-phosphogluconolactone4510.3G6PD, PGD
36-aminonicotinamide4510.2G6PD, PGD
4o-ethylhydroxylamine4510.2GSR, G6PD
5no-dimethylhydroxylamine4510.2G6PD, GSR
623-diphosphoglycerate4510.2G6PD, HP
73alpha-hydroxysteroid4510.2PGD, G6PD
8cumene hydroperoxide4510.2GSR, G6PD
9zinc protoporphyrin4510.2HP, G6PD
102,5-adp4510.1GSR, G6PD
11prpp4510.1PGD, G6PD
12diamide4510.0GSR, G6PD
13acetone4510.0GSR, G6PD
14tert-butylhydroperoxide4510.0GSR, G6PD
15starch4510.0G6PD, HP
16isocitrate459.9PGD, G6PD
17cellulose acetate459.9G6PD, HP, PGD
18dehydroascorbic acid45 1110.9PGD, GSR, G6PD
196-phosphogluconate459.9GSR, PGD, G6PD
20nadp+459.9GSR, PGD, G6PD
21gssg459.9G6PD, PGD, GSR
22thiobarbituric acid459.8GSR, G6PD, HP
23tocopherol459.8G6PD, HP, GSR
24sulfasalazine45 29 50 1112.8HP, G6PD
25citrate459.8HP, PGD, G6PD
26uric acid45 2410.8HP, GSR, G6PD
27chloroquine45 2 50 29 1113.8GSR, HP, G6PD
28vitamin-e459.8GSR, G6PD, HP
29methimazole45 2 1111.8GSR, G6PD
30pyruvate459.7PGD, PKLR, G6PD
312'-Monophosphoadenosine 5'-Diphosphoribose119.7G6PD, DECR1
32thyroxine45 2410.7GSR, HP, G6PD
33folate459.7G6PD, GSR, HP
34fructose-1,6-bisphosphate459.7GSR, HPR, G6PD
35lactose45 1110.7HP, HPR, G6PD
36carbohydrates459.6HP, HPR, PKLR
37phenol45 2410.5G6PD, PGD
38glyceraldehyde 3-phosphate459.5PGD, PKLR, G6PD, GSR
39epinephrine45 11 2411.5GSR, HP, G6PD
40malondialdehyde459.5PGD, G6PD, HP, GSR
41ascorbic acid45 2410.4G6PD, HP, GSR, PGD
42lactate459.4HP, PGD, GSR, G6PD
43aspartate459.4G6PD, GSR, PGD, HP
44Nicotinamide-Adenine-Dinucleotide119.3DECR1, GSR
45h2o2459.3G6PD, HP, PGD, GSR
46nadph45 2410.2PGD, GSR, G6PD, DECR1
47atp45 2910.0PGD, HPR, HP, PKLR, G6PD
48glucose459.0PGD, HPR, HP, G6PD, PKLR
49adenylate458.9HP, HPR, PGD, GSR, G6PD
50lipid458.3HPR, HP, G6PD, GSR, CLIC1

GO Terms for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

Sources:
16Gene Ontology
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Biological processes related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pentose biosynthetic processGO:0193229.9PGD, G6PD
2pentose-phosphate shunt, oxidative branchGO:0090519.9PGD, G6PD
3pentose-phosphate shuntGO:0060989.8PGD, G6PD
4carbohydrate metabolic processGO:0059759.5PGD, PKLR, G6PD
5glutathione metabolic processGO:0067499.5GSR, G6PD
6small molecule metabolic processGO:0442818.4G6PD, DECR1, PKLR, PGD, GSR

Molecular functions related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:0304929.6HPR, HP
2NADP bindingGO:0506619.1GSR, PGD, G6PD

Products for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glucosephosphate Dehydrogenase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet