MCID: GLC009
MIFTS: 50

Glucosephosphate Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Glucosephosphate Dehydrogenase Deficiency

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OMIM:46 G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia.... (300908) more...

MalaCards based summary: Glucosephosphate Dehydrogenase Deficiency, also known as glucose-6-phosphate dehydrogenase deficiency, is related to hemolytic anemia and congenital nonspherocytic hemolytic anemia, and has symptoms including reticulocytosis, fava bean-induced hemolytic anemia and prolonged neonatal jaundice. 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 lung, spleen and heart.

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: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

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

Wikipedia:64 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) also known as favism (after the fava... more...

Description from OMIM:46 305900

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

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Glucosephosphate Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Glucosephosphate Dehydrogenase Deficiency 9 11 61
Glucose-6-Phosphate Dehydrogenase Deficiency 9 42 21 23 22
G6pd Deficiency 64 42 22 44 33
Hemolytic Anemia Due to G6pd Deficiency 42 46 61
 
Deficiency of Glucose-6-Phosphate Dehydrogenase 22 61
Deficiency of G-6pd 9 61
Glucose 6 Phosphate Dehydrogenase Deficiency 22
G6pdd 22


Classifications:



External Ids:

Disease Ontology9 DOID:2862
MeSH34 D005955
OMIM46 305900

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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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 121)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic anemia31.9PKLR
2congenital nonspherocytic hemolytic anemia31.0PKLR, G6PD
3pyruvate kinase deficiency31.0PKLR, G6PD
4sickle cell disease30.9G6PD, HP
5blackwater fever30.9G6PD
6beta thalassemia30.8GSR, G6PD
7cataract30.7GSR, G6PD
8hemoglobinopathy30.6HP, G6PD
9methemoglobinemia30.5GSR, HP, G6PD
10senile cataract30.5G6PD, GSR
11cerebral malaria30.5HP, G6PD
12favism30.5HP, G6PD
13hepatitis c30.4HP, GSR
14congenital hemolytic anemia30.3PKLR, HP, G6PD
15galactosemia30.3HPR, HP
16autoimmune hemolytic anemia30.3HPR, HP, G6PD
17malaria30.3DECR1, G6PD, HP, HPR, GSR
18tuberculosis30.1HP, HPR, GSR
19deficiency anemia29.5G6PD, HP, HPR, PKLR, GSR
20diabetes mellitus29.3DECR1, G6PD, HP, HPR, PKLR, GSR
21neonatal jaundice10.9
22hepatitis10.8
23thalassemia10.7
24kernicterus10.7
25viral hepatitis10.6
26hepatitis a10.6
27gilbert syndrome10.5
28retinitis10.5
29retinal vein occlusion10.5
30sickle cell anemia10.5
31acute pancreatitis10.4
32cerebrovascular disease10.4
33pancreatitis10.4
34central retinal vein occlusion10.4
35diabetic ketoacidosis10.4
36priapism10.4
37cerebritis10.4
38pneumonia10.4
39sideroblastic anemia10.4
40spotted fever10.4
41toxoplasmosis10.4
42congenital methemoglobinemia10.2
43chediak-higashi syndrome10.2
44chronic granulomatous disease10.2
45crigler-najjar syndrome10.2
46dengue hemorrhagic fever10.2
47ectodermal dysplasia10.2
48hematopoietic stem cell transplantation10.2
49hepatitis b10.2
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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Clinical features from OMIM:

305900,300908

HPO human phenotypes related to Glucosephosphate Dehydrogenase Deficiency:

id Description Frequency HPO Source Accession
1 reticulocytosis HP:0001923
2 fava bean-induced hemolytic anemia HP:0004814
3 prolonged neonatal jaundice HP:0006579
4 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Glucosephosphate Dehydrogenase Deficiency

Search NIH Clinical Center for Glucosephosphate Dehydrogenase Deficiency

Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

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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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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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Variations for Glucosephosphate Dehydrogenase Deficiency

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

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

Clinvar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

7 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1G6PDNM_000402.4(G6PD): c.1268G> A (p.Arg423His)single nucleotide variantPathogenicrs137852316GRCh37Chr X, 153760891: 153760891
2G6PDNM_000402.4(G6PD): c.1429G> A (p.Gly477Arg)single nucleotide variantPathogenicrs137852317GRCh37Chr X, 153760626: 153760626
3G6PDNM_000402.4(G6PD): c.1192G> A (p.Glu398Lys)single nucleotide variantPathogenicrs387906468GRCh37Chr X, 153760967: 153760967
4G6PDNM_000402.4(G6PD): c.727G> T (p.Val243Leu)single nucleotide variantPathogenicrs137852326GRCh37Chr X, 153762560: 153762560
5G6PDNM_000402.4(G6PD): c.1179C> A (p.Asn393Lys)single nucleotide variantPathogenicrs137852329GRCh37Chr X, 153760980: 153760980
6G6PDNM_000402.4(G6PD): c.683G> C (p.Arg228Pro)single nucleotide variantPathogenicrs137852332GRCh37Chr X, 153762604: 153762604
7G6PDNM_000402.4(G6PD): c.1249C> T (p.Arg417Cys)single nucleotide variantPathogenicrs137852334GRCh37Chr X, 153760910: 153760910
8G6PDNM_000402.4(G6PD): c.1270G> C (p.Val424Leu)single nucleotide variantPathogenicrs137852335GRCh37Chr X, 153760889: 153760889
9G6PDNM_000402.4(G6PD): c.1319G> A (p.Gly440Asp)single nucleotide variantPathogenicrs137852336GRCh37Chr X, 153760840: 153760840
10G6PDNM_000402.4(G6PD): c.1406G> C (p.Arg469Pro)single nucleotide variantPathogenicrs137852337GRCh37Chr X, 153760649: 153760649
11NM_000402.4(G6PD): c.193_195delATC (p.Ile66del)deletionPathogenicrs137852338GRCh37Chr X, 153774266: 153774268
12G6PDNM_000402.4(G6PD): c.1172C> T (p.Ala391Val)single nucleotide variantPathogenicrs137852345GRCh37Chr X, 153760987: 153760987
13G6PDG6PD NARAdeletionPathogenic
14G6PDNM_000402.4(G6PD): c.896G> A (p.Cys299Tyr)single nucleotide variantPathogenicrs137852346GRCh37Chr X, 153761849: 153761849
15G6PDNM_000402.4(G6PD): c.1054T> C (p.Tyr352His)single nucleotide variantPathogenicrs137852347GRCh37Chr X, 153761244: 153761244
16G6PDG6PD AMSTERDAMdeletionPathogenic

Expression for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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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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Pathways related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.6PKLR, G6PD
29.4GSR, G6PD
3
Show member pathways
glutathione-mediated detoxification I37
glutathione redox reactions I37
glutathione redox reactions II37
4-hydroxy-2-nonenal detoxification37
Glutathione metabolism59
Glutathione metabolism37
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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Sources:
44Novoseek, 12DrugBank, 29IUPHAR, 50PharmGKB, 3BitterDB, 25HMDB
See all sources

Compounds related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
123-diphosphoglycerate4410.0G6PD, HP
2zinc protoporphyrin449.9G6PD, HP
3o-ethylhydroxylamine449.9GSR, G6PD
4no-dimethylhydroxylamine449.9G6PD, GSR
5starch449.9G6PD, HP
6cumene hydroperoxide449.9GSR, G6PD
72,5-adp449.9GSR, G6PD
8cellulose acetate449.8HP, G6PD
9dehydroascorbic acid44 1210.8GSR, G6PD
10sulfasalazine29 44 50 1212.8G6PD, HP
11diamide449.8G6PD, GSR
126-phosphogluconate449.8GSR, G6PD
13acetone449.8GSR, G6PD
14tert-butylhydroperoxide449.8G6PD, GSR
15nadp+449.8G6PD, GSR
16gssg449.8GSR, G6PD
17methimazole44 3 1211.7GSR, G6PD
18alpha lipoic acid449.7G6PD, GSR
19alpha-ketoglutarate449.7G6PD, PKLR
20ribavirin44 50 1211.7HP, G6PD
21guanidine hydrochloride449.4GSR, G6PD
22glyceraldehyde 3-phosphate449.4GSR, G6PD, PKLR
23thiobarbituric acid449.4G6PD, HP, GSR
24tocopherol449.4G6PD, HP, GSR
25malondialdehyde449.4G6PD, HP, GSR
26uric acid44 2510.4GSR, HP, G6PD
27chloroquine44 3 50 29 1213.4G6PD, HP, GSR
28glucose 6-phosphate44 2510.4G6PD, HP, GSR
29vitamin-e449.3G6PD, HP, GSR
30thyroxine44 2510.3G6PD, HP, GSR
31NADP259.3G6PD, DECR1, GSR
32folate449.3G6PD, GSR, HP
33epinephrine44 25 1211.3HP, GSR, G6PD
34ascorbic acid44 2510.3GSR, HP, G6PD
35vitamin b12449.2HP, G6PD
36phosphoenolpyruvate44 1210.2PKLR, HPR
37nadph44 2510.2GSR, DECR1, G6PD
38lactose44 1210.2G6PD, HPR, HP
392-deoxyglucose44 1210.1G6PD, HPR
40lactate449.1G6PD, GSR, HP
41creatinine449.1GSR, HP, G6PD
42aspartate449.1GSR, G6PD, HP
43carbohydrates449.1PKLR, HPR, HP
44fructose-1,6-bisphosphate449.1HPR, GSR, G6PD
45atp44 299.6PKLR, HPR, G6PD, HP
46glucose448.6PKLR, HP, G6PD, HPR
47adenylate448.5G6PD, HP, HPR, GSR
48estrogen448.5GSR, HPR, HP, G6PD
49serine448.4HPR, HP, G6PD, PKLR
50lipid448.4HP, G6PD, HPR, GSR

GO Terms for genes affiliated with Glucosephosphate Dehydrogenase Deficiency

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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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Sources for Glucosephosphate Dehydrogenase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet