MCID: GLC009
MIFTS: 47

Glucosephosphate Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases categories

Summaries for Glucosephosphate Dehydrogenase Deficiency

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
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MedlinePlus:35 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 hemolytic anemia and sickle cell disease. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is G6PD (glucose-6-phosphate dehydrogenase), and among its related pathways are Carbon metabolism and Sulfation Biotransformation Reaction. The compounds 23-diphosphoglycerate and zinc protoporphyrin have been mentioned in the context of this disorder. Affiliated tissues include spleen, heart and lung.

Disease Ontology:9 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated g6pd or g6pdh).

Genetics Home Reference:22 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:44 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.Ā this conditionĀ 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, particularlyĀ 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:66 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked recessive hereditary... more...

Description from OMIM:48 305900,300908

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

glucosephosphate dehydrogenase deficiency 9 11 63
glucose-6-phosphate dehydrogenase deficiency 9 44 21 23 22
g6pd deficiency 66 44 22 46 35
deficiency of glucose-6-phosphate dehydrogenase 22 63
hemolytic anemia due to g6pd deficiency 44 48
glucose 6 phosphate dehydrogenase deficiency 22
deficiency of g-6pd 9
g6pdd 22


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Disease Ontology9 DOID:2862
OMIM48 305900
MeSH36 D005955

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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18GeneCards, 19GeneDecks
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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 120)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia31.4PKLR
2sickle cell disease31.0G6PD, HP
3malaria30.9DECR1, G6PD, HP, HPR, GSR
4methemoglobinemia30.8GSR, HP, G6PD
5beta thalassemia30.8GSR, G6PD
6cataract30.7GSR, G6PD
7congenital nonspherocytic hemolytic anemia30.7PKLR, G6PD
8pyruvate kinase deficiency30.7PKLR, G6PD
9sickle cell anemia30.7G6PD, HP
10hemoglobinopathy30.5HP, G6PD
11cerebral malaria30.5HP, G6PD
12hepatitis c30.5HP, GSR
13congenital hemolytic anemia30.5PKLR, HP, G6PD
14autoimmune hemolytic anemia30.5HPR, HP, G6PD
15favism30.4HP, G6PD
16blackwater fever30.4G6PD
17diabetes mellitus30.4DECR1, G6PD, HP, HPR, PKLR, GSR
18senile cataract30.3G6PD, GSR
19galactosemia30.3HPR, HP
20tuberculosis30.2HP, HPR, GSR
21deficiency anemia30.1G6PD, HP, HPR, PKLR, GSR
22neonatal jaundice10.9
23hepatitis10.8
24thalassemia10.7
25kernicterus10.7
26viral hepatitis10.6
27hepatitis a10.6
28gilbert syndrome10.5
29retinitis10.5
30retinal vein occlusion10.4
31acute pancreatitis10.4
32cerebrovascular disease10.4
33pancreatitis10.4
34diabetic ketoacidosis10.4
35central retinal vein occlusion10.4
36priapism10.4
37cerebritis10.4
38pneumonia10.4
39sideroblastic anemia10.4
40spotted fever10.4
41toxoplasmosis10.4
42congenital methemoglobinemia10.2
43pulmonary tuberculosis10.2
44chediak-higashi syndrome10.2
45congenital adrenal hyperplasia10.2
46alpha thalassemia10.2
47hereditary spherocytosis10.2
48plasmodium vivax malaria10.2
49hereditary elliptocytosis10.2
50osteoarthritis10.2

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



Diseases related to glucosephosphate dehydrogenase deficiency

Symptoms for Glucosephosphate Dehydrogenase Deficiency

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48OMIM
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Clinical features from OMIM:

305900,300908

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Glucose-6-Phosphate Dehydrogenase Deficiency21 G6PD
2 Glucose 6 Phosphate Dehydrogenase Deficiency23

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

34
Spleen, Heart, Lung, Testes

Animal Models for Glucosephosphate Dehydrogenase Deficiency or affiliated genes

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Publications for Glucosephosphate Dehydrogenase Deficiency

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Variations for Glucosephosphate Dehydrogenase Deficiency

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

65
id Symbol AA change Variation ID 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

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2BioGPS, 16Gene 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

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51PathCards, 31KEGG, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters
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Pathways related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.6PKLR, G6PD
29.4GSR, G6PD
3
Show member pathways
glutathione-mediated detoxification I39
glutathione redox reactions I39
glutathione redox reactions II39
4-hydroxy-2-nonenal detoxification39
Glutathione metabolism61
Glutathione metabolism39
9.4GSR, G6PD
4
Show member pathways
9.1HPR, HP
5
Show member pathways
8.5DECR1, G6PD, PKLR, GSR

Compounds for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 3BitterDB, 25HMDB
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Compounds related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate4610.0HP, G6PD
2zinc protoporphyrin469.9HP, G6PD
3o-ethylhydroxylamine469.9GSR, G6PD
4no-dimethylhydroxylamine469.9GSR, G6PD
5starch469.9HP, G6PD
6cumene hydroperoxide469.9GSR, G6PD
72,5-adp469.9GSR, G6PD
8cellulose acetate469.8HP, G6PD
9dehydroascorbic acid46 1210.8GSR, G6PD
10sulfasalazine30 46 52 1212.8G6PD, HP
11diamide469.8G6PD, GSR
126-phosphogluconate469.8GSR, G6PD
13acetone469.8G6PD, GSR
14tert-butylhydroperoxide469.8GSR, G6PD
15nadp+469.8GSR, G6PD
16gssg469.8G6PD, GSR
17alpha-ketoglutarate469.7G6PD, PKLR
18methimazole46 3 1211.7GSR, G6PD
19alpha lipoic acid469.7G6PD, GSR
20ribavirin46 52 1211.6G6PD, HP
21guanidine hydrochloride469.4GSR, G6PD
22glyceraldehyde 3-phosphate469.4G6PD, PKLR, GSR
23thiobarbituric acid469.4GSR, HP, G6PD
24tocopherol469.4G6PD, HP, GSR
25malondialdehyde469.4G6PD, HP, GSR
26uric acid46 2510.4GSR, HP, G6PD
27chloroquine46 3 52 30 1213.4G6PD, HP, GSR
28vitamin-e469.4GSR, HP, G6PD
29glucose 6-phosphate46 2510.3GSR, HP, G6PD
30thyroxine46 2510.3GSR, HP, G6PD
31NADP259.3DECR1, G6PD, GSR
32folate469.3GSR, HP, G6PD
33epinephrine46 25 1211.3G6PD, HP, GSR
34ascorbic acid46 2510.3GSR, HP, G6PD
35vitamin b12469.2HP, G6PD
36phosphoenolpyruvate46 1210.2PKLR, HPR
37nadph46 2510.2GSR, G6PD, DECR1
38lactose46 1210.2HPR, HP, G6PD
39lactate469.1GSR, HP, G6PD
402-deoxyglucose46 1210.1G6PD, HPR
41creatinine469.1GSR, HP, G6PD
42aspartate469.1G6PD, HP, GSR
43carbohydrates469.1HP, HPR, PKLR
44fructose-1,6-bisphosphate469.1GSR, HPR, G6PD
45atp46 309.6PKLR, HPR, HP, G6PD
46glucose468.6G6PD, HP, HPR, PKLR
47adenylate468.5G6PD, HP, HPR, GSR
48estrogen468.5GSR, HPR, HP, G6PD
49serine468.4PKLR, HPR, HP, G6PD
50lipid468.4GSR, HPR, HP, G6PD

GO Terms for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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17Gene Ontology
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Cellular components related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.1HPR, HP
2extracellular vesicular exosomeGO:0700628.2GSR, PKLR, HP, G6PD

Biological processes related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutathione metabolic processGO:0067499.1GSR, G6PD
2small molecule metabolic processGO:0442818.5GSR, PKLR, G6PD, DECR1

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:0506619.1GSR, G6PD
2catalytic activityGO:0038249.1HPR, HP
3hemoglobin bindingGO:0304929.0HPR, HP

Products for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glucosephosphate Dehydrogenase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet