MCID: GLC009
MIFTS: 41

Glucosephosphate Dehydrogenase Deficiency malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

Aliases & Descriptions for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 42 14
G6pd Deficiency 71 50 24 25 52 41
Glucose-6-Phosphate Dehydrogenase Deficiency 12 50 24 25
Deficiency of Glucose-6-Phosphate Dehydrogenase 25 69
Glucose 6 Phosphate Dehydrogenase Deficiency 25 29
Hemolytic Anemia Due to G6pd Deficiency 50
Deficiency of G-6pd 12
G6pdd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
MeSH 42 D005955
NCIt 47 C98933
UMLS 69 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus : 41 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 based summary : Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to hemolytic anemia due to g6pd deficiency and favism. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Carbon metabolism and Glucose / Energy Metabolism. The drugs Artesunate and chloroquine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes.

Disease Ontology : 12 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).

Genetics Home Reference : 25 Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively 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 : 50 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. it occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. this enzyme helps red blood cells work properly. symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin (jaundice). g6pd deficiency is inherited in an x-linked recessive manner and symptoms are more common in males (particularly african americans and those from certain parts of africa, asia, and the mediterranean). it is caused by mutations in the g6pd gene. treatment may involve medicines to treat infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases. last updated: 5/8/2017

Wikipedia : 71 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency), also known as favism (after the fava... more...

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

Diseases related to Glucosephosphate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 hemolytic anemia due to g6pd deficiency 12.5
2 favism 11.1
3 epiblepharon 10.2 G6PD PGD
4 microphthalmia, syndromic 13 10.2 G6PD HP
5 cutaneous pseudolymphoma 10.2 G6PD HBG2
6 tendinopathy 10.1 G6PD HBG2
7 toxic labyrinthitis 10.1 G6PD HP
8 abacavir toxicity 10.1 SLCO1B1 UGT1A1
9 renal artery disease 10.1 G6PD UGT1A1
10 heparane sulfamidase deficiency 10.1 HBB HP
11 cardiomyopathy, dilated, 1w 10.1 G6PD HBB
12 glandular cystitis 10.1 G6PD SLCO1B1 UGT1A1
13 tmem237-related joubert syndrome 10.0 HBB UGT1A1
14 sepsis in premature infants 10.0 HBB HBG2
15 isolated atp synthase deficiency 10.0 HBB HBG2
16 cerebral artery occlusion 10.0 SLCO1B1 UGT1A1
17 costello syndrome 10.0 HBB HBG2
18 meningeal melanocytoma 10.0 G6PD HBB HP
19 viral meningitis 10.0 G6PD H6PD
20 geniculate ganglionitis 10.0 G6PD HBB HP
21 larynx sarcoma 10.0 HBB HP UGT1A1
22 heinz body anemia 10.0 G6PD HBB UGT1A1
23 borderline leprosy 10.0 HBB UGT1A1
24 vagus nerve neoplasm 10.0 G6PD HBB UGT1A1
25 hepatitis b 10.0 G6PD HBB HP
26 pyeloureteritis cystica 10.0 G6PD HP SLCO1B1 UGT1A1
27 pyelitis 9.9 G6PD HP SLCO1B1 UGT1A1
28 subacute monocytic leukemia 9.9 G6PD H6PD
29 adenosine triphosphate, elevated, of erythrocytes 9.9 G6PD HBG2
30 thalassemia-beta, dominant inclusion-body 9.9 HBB HBG2 UGT1A1
31 pancreatitis 9.9
32 cerebrovascular disease 9.9
33 sickle cell anemia 9.9
34 hemolytic anemia 9.9
35 hepatitis 9.9
36 neonatal jaundice 9.9
37 acute pancreatitis 9.9
38 hepatitis e 9.9
39 setariasis 9.8 G6PD HBB HBG2 HP
40 neuronal ceroid-lipofuscinoses 9.8 G6PD HBB HBG2 HP
41 tk2-related mitochondrial dna depletion syndrome, myopathic form 9.8 G6PD HBB HBG2 UGT1A1
42 fetal hemoglobin quantitative trait locus 1 9.8 G6PD HBB HBG2 UGT1A1
43 tracheal cancer 9.8 G6PD HBB HBG2 UGT1A1
44 endometriosis of uterus 8.8 FREM3 G6PD H6PD HBB HBG2 HP

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



Diseases related to Glucosephosphate Dehydrogenase Deficiency

Symptoms & Phenotypes for Glucosephosphate Dehydrogenase Deficiency

Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

Drugs for Glucosephosphate Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved Phase 4,Phase 3,Phase 1,Phase 2 88495-63-0 6917864 5464098
2
chloroquine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-05-7 2719
3
Primaquine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-34-6 4908
4
Dapsone Approved, Investigational Phase 4,Phase 3 80-08-0 2955
5
Artemether Approved Phase 4,Phase 2,Phase 3 71963-77-4 119380 68911
6
Lumefantrine Approved Phase 4,Phase 2,Phase 3 82186-77-4 6437380
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 22916-47-8 4189
8
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
9
Sulfadoxine Approved Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
10
Mefloquine Approved Phase 4,Phase 3,Phase 1,Phase 2 53230-10-7 4046
11
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
12
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
14
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 54575, 6560146 143
15 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
16 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
17 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1
18 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
19 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
21 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1
22 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
26 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Anti-Bacterial Agents Phase 4,Phase 3
28 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
29 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
30 Artemisinine Phase 4,Phase 2,Phase 3,Phase 1
31 Artemisinins Phase 4,Phase 2,Phase 3,Phase 1
32
Dihydroartemisinin Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
33
Piperaquine Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
34 Antifungal Agents Phase 4,Phase 2,Phase 3
35 Artemether-lumefantrine combination Phase 4,Phase 2,Phase 3
36 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
37 Liver Extracts Phase 4
38
Bilirubin Phase 4 635-65-4 5280352
39 Pharmaceutical Solutions Phase 4,Phase 2
40 Antioxidants Phase 4
41 Protective Agents Phase 4
42 Cholagogues and Choleretics Phase 4
43 Gastrointestinal Agents Phase 4
44 N-Methylaspartate Phase 4
45 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
46 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
47 alanine Nutraceutical Phase 4
48 Aspartic Acid Nutraceutical Phase 4
49
Proguanil Approved Phase 3,Phase 1,Phase 2 500-92-5 4923
50
Amodiaquine Approved Phase 3,Phase 1,Phase 2 86-42-0 2165

Interventional clinical trials:

(show top 50) (show all 70)
id Name Status NCT ID Phase
1 Comparison of Two Antimalarial Drugs Regimens in Patient With Plasmodium Vivax Malaria in Thailand Unknown status NCT01662700 Phase 4
2 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Unknown status NCT01178021 Phase 4
3 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4
4 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4
5 A Study to Assess Safety of Current Standard Malaria Treatment and an Assessment of G6PD Status in South-east Bangladesh Completed NCT02389374 Phase 4
6 A Study to Assess Current Standard Malaria Treatment Guidelines in the Republic of the Sudan Completed NCT02592408 Phase 4
7 Efficacy and Safety of a Single Low-dose Primaquine for the Clearance of Gametocytes Completed NCT02090036 Phase 4
8 Pharmacokinetic and Pharmacodynamic Study of Mefloquine and Dihydroartemisinin-Piperaquine in Healthy Subjects Completed NCT02324738 Phase 4
9 Effect of Liver and Blood-stage Treatment on Subsequent Plasmodium Reinfection and Morbidity Completed NCT02143934 Phase 4
10 Ethiopia Antimalarial in Vivo Efficacy Study 2012 Completed NCT01680406 Phase 4
11 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Recruiting NCT02594904 Phase 4
12 Investigation of Short Course, High Dose Primaquine Treatment for Liver Stages of Plasmodium Vivax Infection Recruiting NCT02364583 Phase 4
13 Malaria Elimination Pilot Study in Military Forces in Cambodia Recruiting NCT02653898 Phase 4
14 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Recruiting NCT02472509 Phase 4
15 G6PD Assessment Before Primaquine for Radical Treatment of Vivax Malaria Not yet recruiting NCT02876549 Phase 4
16 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4
17 Safety of Primaquine + Artemether-lumefantrine in G6PD Deficient Males With an Asymptomatic Malaria Infection (SAFEPRIM) Completed NCT02174900 Phase 2, Phase 3
18 Study to Assess the Incidence of Hemolysis, Safety, and Efficacy of Tafenoquine (SB-252263, WR238605) Versus Primaquine in Subjects With Plasmodium Vivax Malaria Completed NCT02216123 Phase 3
19 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3
20 Low Dose Primaquine for Clearance of Gametocytes Completed NCT01935882 Phase 2, Phase 3
21 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3
22 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3
23 Study of ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria Completed NCT01288820 Phase 3
24 Comparison Between 7 and 14 Day Primaquine Combined With Dihydroartemisinin-piperaquine or 3 Day Chloroquine Radical Cure of P. Vivax (BPD) Completed NCT01640574 Phase 3
25 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3
26 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3
27 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3
28 Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation Not yet recruiting NCT02498340 Phase 2, Phase 3
29 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Not yet recruiting NCT02802501 Phase 3
30 Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The Gambia Terminated NCT02654730 Phase 2, Phase 3
31 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2
32 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2
33 Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates With Hyperbilirubinemia Completed NCT01887327 Phase 2
34 Phase2a Primaquine Dose Escalation Study Completed NCT01743820 Phase 2
35 Intermittent Preventive Treatment for Malaria in Patient With Sickle Cell Disease Completed NCT01319448 Phase 1, Phase 2
36 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2
37 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2
38 Phase 2 Efficacy Study of Primaquine and Methylene Blue Completed NCT02831023 Phase 2
39 DHEA in Synovial Sarcoma Patients Recruiting NCT02683148 Phase 1, Phase 2
40 P.Vivax Treatment Trial Recruiting NCT02802813 Phase 1, Phase 2
41 A Pharmacokinetics, Safety and Efficacy Study of Tafenoquine (TQ) in Pediatric Subjects With Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02563496 Phase 2
42 G6PD (Glucose-6-phosphate Dehydrogenase) Study to Evaluate Hemolysis Potential of TFQ (Tafenoquine) Completed NCT01205178 Phase 1
43 Pharmacokinetic and in Vitro Transmission Blocking Activities Study of Primaquine Compare to Methylene Blue in Healthy Volunteer Both G6PD Normal and G6PD Deficiency Completed NCT01668433 Phase 1
44 Pharmacokinetic Study of Primaquine in Healthy Obese Thai Adult Subjects Completed NCT02789566 Phase 1
45 Primaquine Pharmacokinetics in Lactating Women and Their Infants Completed NCT01780753 Phase 1
46 Study on Newborn Babies With a Yellow Skin Color (Neonatal Jaundice Study) Unknown status NCT02361788
47 Comparing G6PD Tests Using Capillary Blood Versus Venous Blood Completed NCT02069236
48 Evaluation of Different G6PD Testing Platforms Completed NCT02104518
49 A Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323
50 Erythrocyte and Adipocyte G6PD Activity Levels in Obesity Completed NCT01322035

Search NIH Clinical Center for Glucosephosphate Dehydrogenase Deficiency

Cochrane evidence based reviews: glucosephosphate dehydrogenase deficiency

Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Glucose 6 Phosphate Dehydrogenase Deficiency 29
2 Glucose-6-Phosphate Dehydrogenase Deficiency 24 G6PD

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

39
Lung, Heart, Testes, Skin, Spleen

Publications for Glucosephosphate Dehydrogenase Deficiency

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
2 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
3 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
4 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh37 Chromosome X, 153762340: 153762340
5 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240

Expression for Glucosephosphate Dehydrogenase Deficiency

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

Pathways for Glucosephosphate Dehydrogenase Deficiency

Pathways related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 G6PD H6PD PGD
2 11.72 G6PD HBB PGD UGT1A1
3 11.59 G6PD PGD UGT1A1
4
Show member pathways
11.28 SLCO1B1 UGT1A1
5
Show member pathways
11.14 SLCO1B1 UGT1A1
6
Show member pathways
10.7 SLCO1B1 UGT1A1
7
Show member pathways
10.59 G6PD H6PD PGD
8
Show member pathways
10.11 G6PD PGD

GO Terms for Glucosephosphate Dehydrogenase Deficiency

Cellular components related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.43 HBB HBG2 HP
2 tertiary granule lumen GO:1904724 9.32 HBB HP
3 endocytic vesicle lumen GO:0071682 9.16 HBB HP
4 hemoglobin complex GO:0005833 8.96 HBB HBG2
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HP

Biological processes related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.48 HBB HP
2 glucose metabolic process GO:0006006 9.46 G6PD H6PD
3 response to hydrogen peroxide GO:0042542 9.43 HBB HP
4 positive regulation of cell death GO:0010942 9.4 HBB HP
5 acute-phase response GO:0006953 9.37 HP UGT1A1
6 oxygen transport GO:0015671 9.32 HBB HBG2
7 NADP metabolic process GO:0006739 9.26 G6PD H6PD
8 pentose-phosphate shunt, oxidative branch GO:0009051 9.16 G6PD PGD
9 pentose biosynthetic process GO:0019322 8.96 G6PD PGD
10 pentose-phosphate shunt GO:0006098 8.8 G6PD H6PD PGD

Molecular functions related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxygen binding GO:0019825 9.32 HBB HBG2
2 NADP binding GO:0050661 9.26 G6PD H6PD
3 oxygen transporter activity GO:0005344 9.16 HBB HBG2
4 hemoglobin binding GO:0030492 8.96 HBB HP
5 glucose-6-phosphate dehydrogenase activity GO:0004345 8.62 G6PD H6PD

Sources for Glucosephosphate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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