MCID: GLC009
MIFTS: 48

Glucosephosphate Dehydrogenase Deficiency malady

Summaries for Glucosephosphate Dehydrogenase Deficiency

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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 neonatal jaundice and deficiency anemia. 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. Affiliated tissues include lung, spleen and heart.

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:42 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:63 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked recessive hereditary... more...

Description from OMIM:46 305900,300908

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

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8Disease Ontology, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 63Wikipedia, 44Novoseek, 33MedlinePlus, 46OMIM, 34MeSH
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Aliases & Descriptions:

glucosephosphate dehydrogenase deficiency 8 10 60
glucose-6-phosphate dehydrogenase deficiency 8 42 20 22 21
g6pd deficiency 63 42 21 44 33
deficiency of glucose-6-phosphate dehydrogenase 21 60
hemolytic anemia due to g6pd deficiency 42 46
glucose 6 phosphate dehydrogenase deficiency 21
deficiency of g-6pd 8
g6pdd 21


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Disease Ontology8 DOID:2862
MeSH34 D005955
OMIM46 305900

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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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 118)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal jaundice31.3G6PD
2deficiency anemia31.2HP, GSR, PKLR, G6PD, HPR, PGD
3hemolytic anemia31.1HP, G6PD, PKLR
4hepatitis31.1HP
5malaria31.0HPR, G6PD, GSR, HP, DECR1
6sickle cell disease30.9G6PD, HP
7viral hepatitis30.8G6PD
8methemoglobinemia30.8HP, GSR, G6PD
9congenital hemolytic anemia30.7PKLR, HP, G6PD
10congenital nonspherocytic hemolytic anemia30.7G6PD, PKLR
11beta thalassemia30.7G6PD, GSR
12sickle cell anemia30.6G6PD, HP
13diabetes mellitus30.5GSR, HP, PKLR, DECR1, G6PD, HPR
14hemoglobinopathy30.4G6PD, HP
15cerebral malaria30.4G6PD, HP
16hepatitis c30.4HP, GSR
17autoimmune hemolytic anemia30.4HP, HPR, G6PD
18favism30.3HP, G6PD
19plasmodium falciparum malaria30.3GSR, HP, G6PD
20alpha thalassemia30.2G6PD
21blackwater fever30.2G6PD
22hepatitis b30.2GSR
23galactosemia30.2HP, HPR
24color blindness30.2G6PD, XG
25tuberculosis30.2HPR, HP, GSR
26senile cataract30.2G6PD, GSR
27hypertension29.9DECR1
28thalassemia10.7
29kernicterus10.6
30hepatitis a10.6
31gilbert syndrome10.5
32cataract10.5
33retinitis10.5
34retinal vein occlusion10.4
35acute pancreatitis10.3
36cerebrovascular disease10.3
37pancreatitis10.3
38diabetic ketoacidosis10.3
39cerebritis10.3
40priapism10.3
41central retinal vein occlusion10.3
42pneumonia10.3
43sideroblastic anemia10.3
44spotted fever10.3
45toxoplasmosis10.3
46congenital methemoglobinemia10.2
47plasmodium malariae malaria10.2
48chediak-higashi syndrome10.2
49pulmonary tuberculosis10.2
50hypohidrotic ectodermal dysplasia10.2

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



Diseases related to glucosephosphate dehydrogenase deficiency

Clinical Features for Glucosephosphate Dehydrogenase Deficiency

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46OMIM
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Clinical features from OMIM:

305900,300908

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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32MalaCards
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MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

32
Lung, Spleen, Heart, Testes

Animal Models for Glucosephosphate Dehydrogenase Deficiency or affiliated genes

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Publications for Glucosephosphate Dehydrogenase Deficiency

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50PubMed
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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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

62
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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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

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29KEGG, 53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 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
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9.4GSR, PGD, G6PD

Compounds for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 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-phosphate44 2411.3G6PD, PGD
26-phosphogluconolactone4410.3G6PD, PGD
36-aminonicotinamide4410.2G6PD, PGD
4o-ethylhydroxylamine4410.2GSR, G6PD
5no-dimethylhydroxylamine4410.2G6PD, GSR
623-diphosphoglycerate4410.2G6PD, HP
73alpha-hydroxysteroid4410.2PGD, G6PD
8cumene hydroperoxide4410.2GSR, G6PD
9zinc protoporphyrin4410.2HP, G6PD
102,5-adp4410.1GSR, G6PD
11prpp4410.1PGD, G6PD
12diamide4410.0GSR, G6PD
13acetone4410.0GSR, G6PD
14tert-butylhydroperoxide4410.0GSR, G6PD
15starch4410.0G6PD, HP
16isocitrate449.9PGD, G6PD
17cellulose acetate449.9G6PD, HP, PGD
18dehydroascorbic acid44 1110.9PGD, GSR, G6PD
196-phosphogluconate449.9GSR, PGD, G6PD
20nadp+449.9GSR, PGD, G6PD
21gssg449.9G6PD, PGD, GSR
22thiobarbituric acid449.8GSR, G6PD, HP
23tocopherol449.8G6PD, HP, GSR
24sulfasalazine44 28 49 1112.8HP, G6PD
25citrate449.8HP, PGD, G6PD
26uric acid44 2410.8HP, GSR, G6PD
27chloroquine44 2 49 28 1113.8GSR, HP, G6PD
28vitamin-e449.8GSR, G6PD, HP
29methimazole44 2 1111.8GSR, G6PD
30pyruvate449.7PGD, PKLR, G6PD
312'-Monophosphoadenosine 5'-Diphosphoribose119.7G6PD, DECR1
32thyroxine44 2410.7GSR, HP, G6PD
33folate449.7G6PD, GSR, HP
34fructose-1,6-bisphosphate449.7GSR, HPR, G6PD
35lactose44 1110.7HP, HPR, G6PD
36carbohydrates449.6HP, HPR, PKLR
37phenol44 2410.5G6PD, PGD
38glyceraldehyde 3-phosphate449.5PGD, PKLR, G6PD, GSR
39epinephrine44 11 2411.5GSR, HP, G6PD
40malondialdehyde449.5PGD, G6PD, HP, GSR
41ascorbic acid44 2410.4G6PD, HP, GSR, PGD
42lactate449.4HP, PGD, GSR, G6PD
43aspartate449.4G6PD, GSR, PGD, HP
44Nicotinamide-Adenine-Dinucleotide119.3DECR1, GSR
45h2o2449.3G6PD, HP, PGD, GSR
46nadph44 2410.2PGD, GSR, G6PD, DECR1
47atp44 2810.0PGD, HPR, HP, PKLR, G6PD
48glucose449.0PGD, HPR, HP, G6PD, PKLR
49adenylate448.9HP, HPR, PGD, GSR, G6PD
50lipid448.3HPR, HP, G6PD, GSR, CLIC1

GO Terms for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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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

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Sources for Glucosephosphate Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet