MCID: GLC009
MIFTS: 48

Glucosephosphate Dehydrogenase Deficiency

Categories: Rare diseases, Blood diseases, Immune diseases, Metabolic diseases

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 44 15
G6pd Deficiency 76 53 25 55 43
Glucose 6 Phosphate Dehydrogenase Deficiency 76 25 29 6
Glucose-6-Phosphate Dehydrogenase Deficiency 12 53 25
Deficiency of Glucose-6-Phosphate Dehydrogenase 25 73
Hemolytic Anemia Due to G6pd Deficiency 53 13
Glucose 6-Phosphate Dehydrogenase Deficiency 37
Anemia, Hemolytic, Due to G6pd Deficiency 40
Deficiency of G-6pd 12
G6pdd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
MeSH 44 D005955
NCIt 50 C98933
KEGG 37 H01375
ICD10 33 D55-D59
UMLS 73 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus : 43 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 anemia, nonspherocytic hemolytic, due to g6pd deficiency and neonatal jaundice. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Glutathione metabolism and Pentose phosphate pathway. The drugs Primaquine and Artesunate have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart.

NIH Rare Diseases : 53 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.

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.

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

Wikipedia : 76 Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes... 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 39)
# Related Disease Score Top Affiliating Genes
1 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.4 G6PD HP
2 neonatal jaundice 30.0 G6PD SLCO1B1 UGT1A1
3 methemoglobinemia 29.7 G6PD HBG2 HP
4 sickle cell anemia 29.2 HBB HBG2 UGT1A1
5 hemolytic anemia 28.8 G6PD HBB HBG2 HP
6 congenital nonspherocytic hemolytic anemia 11.5
7 6-phosphogluconate dehydrogenase deficiency 10.4 G6PD PGD
8 blackwater fever 10.4 G6PD HP
9 irinotecan toxicity 10.3 SLCO1B1 UGT1A1
10 kernicterus 10.3 G6PD UGT1A1
11 malaria 10.3
12 acquired methemoglobinemia 10.3 G6PD HBG2
13 congenital methemoglobinemia 10.2 G6PD HBG2
14 hemoglobinemia 10.1 HBB HP
15 cataract 10.1
16 pigmentation disease 10.1 SLCO1B1 UGT1A1
17 gilbert syndrome 10.1 G6PD SLCO1B1 UGT1A1
18 sleeping sickness 10.0 HP PGD
19 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.0 HBB HBG2
20 colorectal cancer 10.0
21 hepatitis 10.0
22 acute pancreatitis 10.0
23 hepatitis e 10.0
24 pancreatitis 10.0
25 cerebrovascular disease 10.0
26 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.0 HBB HBG2
27 fetal hemoglobin quantitative trait locus 1 9.8 HBB HBG2
28 congenital hemolytic anemia 9.8 G6PD HBB HP
29 hemoglobinopathy 9.8 HBB HP UGT1A1
30 plasmodium falciparum malaria 9.8 G6PD HBB HP
31 lymphosarcoma 9.7 G6PD H6PD
32 hereditary spherocytosis 9.7 G6PD HBB UGT1A1
33 bilirubin metabolic disorder 9.7 G6PD HP SLCO1B1 UGT1A1
34 cholelithiasis 9.6 HBB UGT1A1
35 sickle cell disease 9.6 G6PD HBB HBG2
36 congenital disorder of glycosylation, type in 9.6 HP PGM1
37 deficiency anemia 9.2 G6PD HBB HBG2 HP
38 beta-thalassemia 9.2 G6PD HBB HBG2 UGT1A1
39 alpha-thalassemia 8.8 G6PD HBB HBG2 HP UGT1A1

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 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Primaquine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 90-34-6 4908
2
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 88495-63-0 6917864 5464098
3
Dihydroartemisinin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
4
Mefloquine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53230-10-7 4046
5
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
6
Piperaquine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
7
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-05-7 2719
8
Dapsone Approved, Investigational Phase 4,Phase 3 80-08-0 2955
9
Artemether Approved Phase 4,Phase 2,Phase 3,Not Applicable 71963-77-4 119380 68911
10
Lumefantrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 82186-77-4 6437380
11
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 22916-47-8 4189
12
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
13
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
14
Amodiaquine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 86-42-0 2165
15
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
16
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 59-30-3 6037
17
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
18 Antioxidants Phase 4,Not Applicable
19
Bilirubin Phase 4 635-65-4 5280352
20 Pharmaceutical Solutions Phase 4,Phase 2
21 Protective Agents Phase 4,Not Applicable
22 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Liver Extracts Phase 4
27 Artemisinine Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Artemisinins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-Bacterial Agents Phase 4,Phase 3
38 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
39 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
40 Antifungal Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Artemether-lumefantrine combination Phase 4,Phase 2,Phase 3,Not Applicable
42 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
43 Cholagogues and Choleretics Phase 4
44 Gastrointestinal Agents Phase 4
45 N-Methylaspartate Phase 4
46 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
47 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
48 alanine Nutraceutical Phase 4
49 Aspartic Acid Nutraceutical Phase 4
50
Proguanil Approved Phase 3,Phase 1,Phase 2 500-92-5 4923

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
2 Investigation of Short Course, High Dose Primaquine Treatment for Liver Stages of Plasmodium Vivax Infection Unknown status NCT02364583 Phase 4 Primaquine
3 Malaria Elimination Pilot Study in Military Forces in Cambodia Unknown status NCT02653898 Phase 4 DHA-PIP;Primaquine;Artesunate + Mefloquine;Permethrin (Insecticide treated uniform)
4 Comparison of Two Antimalarial Drugs Regimens in Patient With Plasmodium Vivax Malaria in Thailand Unknown status NCT01662700 Phase 4 Artesunate;Chloroquine
5 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Unknown status NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
6 Evaluating the Efficacy of Chloroquine for the Treatment of Plasmodium Vivax Infections in Central Vietnam Unknown status NCT02610686 Phase 4 Chloroquine
7 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 ACZONE Gel, 5%;Vehicle
8 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
9 A Study to Assess Safety of Current Standard Malaria Treatment and an Assessment of G6PD Status in South-east Bangladesh Completed NCT02389374 Phase 4 chloroquine;Artemether-lumefantrine combination;Primaquine;Primaquine
10 A Study to Assess Current Standard Malaria Treatment Guidelines in the Republic of the Sudan Completed NCT02592408 Phase 4 ASP;SDPQ;14DPQ;14DPQ on Day 42
11 Efficacy and Safety of a Single Low-dose Primaquine for the Clearance of Gametocytes Completed NCT02090036 Phase 4 Primaquine (For artemether-lumefantrine+primaquine arm);Placebo (For artemether-lumefantrine arm)
12 Pharmacokinetic and Pharmacodynamic Study of Mefloquine and Dihydroartemisinin-Piperaquine in Healthy Subjects Completed NCT02324738 Phase 4 Mefloquine and Dihydroartemisinin-piperaquine;Mefloquine
13 Effect of Liver and Blood-stage Treatment on Subsequent Plasmodium Reinfection and Morbidity Completed NCT02143934 Phase 4 Primaquine;Placebo;Chloroquine;Artemether Lumefantrine
14 Ethiopia Antimalarial in Vivo Efficacy Study 2012 Completed NCT01680406 Phase 4 Artemether-lumefantrine combination;Primaquine;Chloroquine
15 Tracking Resistance to Artemisinin (TRAC) Completed NCT01350856 Phase 4 Artesunate 2;Artesunate 4
16 Assessing a Risk Model for G6PD Deficiency Not yet recruiting NCT03337152 Phase 4 primaquine;chloroquine + primaquine
17 G6PD Assessment Before Primaquine for Radical Treatment of Vivax Malaria Not yet recruiting NCT02876549 Phase 4 Chloroquine;Primaquine 0.25 mg/kg/day;Primaquine 0.75 mg/kg weekly
18 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
19 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4 Supervised primaquine treatment;Unsupervised primaquine treatment
20 Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation Unknown status NCT02498340 Phase 2, Phase 3
21 Safety of Primaquine + Artemether-lumefantrine in G6PD Deficient Males With an Asymptomatic Malaria Infection (SAFEPRIM) Completed NCT02174900 Phase 2, Phase 3 Artemether-Lumefantrine (AL) + 0.25 mg/kg primaquine;Artemether-Lumefantrine (AL) combination;Artemether-Lumefantrine (AL) + 0.4 mg/kg primaquine
22 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 Tafenoquine;Tafenoquine Placebo;Chloroquine;Primaquine;Primaquine Placebo
23 Low Dose Primaquine for Clearance of Gametocytes Completed NCT01935882 Phase 2, Phase 3 Artemether-lumefantrine combination;Artemether-Lumefantrine with a single dose of 0.25mg/kg primaquine;Artemether-Lumefantrine with a single dose of 0.4mg/kg primaquine
24 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
25 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
26 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3 primaquine
27 Study of ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria Completed NCT01288820 Phase 3 Dihydroartemisinin/piperaquine + primaquine;Artesunate-amodiaquine + primaquine
28 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 Dihydroartemisinin-Piperaquine;Dihydroartemisinin-Piperaquine;Chloroquine;Chloroquine
29 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
30 A Study by the Tracking Resistance to Artemisinin Collaboration (TRAC) Completed NCT02453308 Phase 2, Phase 3 ACT;TACT
31 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3 sulfadoxine-pyrimethamine and chlorproguanil-dapsone
32 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02802501 Phase 3 Tafenoquine;Matched-Placebo for Tafenoquine;Primaquine;Matched-Placebo for Primaquine;Dihydroartemisinin-piperaquine (DHA-PQP);ACT plus PQ (Rescue medication);PQ (End of study treatment)
33 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3 Paracetamol
34 Study to Compare the Triple ACT AL+AQ With the ACT AL in Cambodia and Vietnam Recruiting NCT03355664 Phase 3 ACT;TACT
35 Comparison of Arterolane-piperaquine Versus Arterolane-piperaquine+Mefloquine Versus Artemether-lumefantrine in Kenyan Children Not yet recruiting NCT03452475 Phase 3 Arterolane-piperaquine;Arterolane-piperaquine+mefloquine;Artemether-lumefantrine
36 Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The Gambia Terminated NCT02654730 Phase 2, Phase 3 Dihydroartemisinin-piperaquine (DHAP) administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD normal;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD normal
37 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
38 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
39 Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates With Hyperbilirubinemia Completed NCT01887327 Phase 2 stannsoporfin;Placebo
40 Phase2a Primaquine Dose Escalation Study Completed NCT01743820 Phase 2 dihydroartemisinin-piperaquine;0.125 mg/kg Primaquine;0.5 mg/kg Primaquine;0.25 mg/kg Primaquine;0.0625 mg/kg Primaquine
41 Intermittent Preventive Treatment for Malaria in Patient With Sickle Cell Disease Completed NCT01319448 Phase 1, Phase 2 Proguanil;mefloquine plus artesunate;Sulfadoxine-pyrimethamine plus amodiaquine
42 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
43 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2 rasburicase (SR29142)
44 Phase 2 Efficacy Study of Primaquine and Methylene Blue Completed NCT02831023 Phase 2 Sulphadoxine-pyrimethamine;0.25 mg/kg primaquine;Dihydroartemisinin-piperaquine;Methylene blue;Amodiaquine
45 Ph 2B/3 Tafenoquine (TFQ) Study in Prevention of Vivax Relapse Completed NCT01376167 Phase 2 Chloroquine 600mg;Chloroquine 300mg;Tafenoquine 50mg;Tafenoquine 100mg;Tafenoquine 300mg;Tafenoquine 600mg;Primaquine 15mg;Chloroquine 600mg (Part 2 );Chloroquine 300mg (Part 2 );Tafenoquine 300mg (Part 2);Primaquine 15mg (Part2 )
46 DHEA in Synovial Sarcoma Patients Recruiting NCT02683148 Phase 1, Phase 2 DHEA
47 P.Vivax Treatment Trial Recruiting NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
48 Long-Term Safety Study of Tafenoquine Recruiting NCT03320174 Phase 2 Tafenoquine
49 A Pharmacokinetics, Safety and Efficacy Study of Tafenoquine (TQ) in Pediatric Subjects With Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02563496 Phase 2 Tafenoquine;Chloroquine
50 Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in G6PD Deficient Patients Not yet recruiting NCT03529396 Phase 2 Chloroquine;Primaquine;Primaquine;Chloroquine;Primaquine

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:

# Genetic test Affiliating Genes
1 Glucose 6 Phosphate Dehydrogenase Deficiency 29

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

41
Skin, Lung, Heart, Testes, Spleen, Liver, Adipocyte

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 169)
# Title Authors Year
1
Primaquine ineligibility in anti-relapse therapy of Plasmodium vivax malaria: the problem of G6PD deficiency and cytochrome P-450 2D6 polymorphisms. ( 29357870 )
2018
2
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
3
Hemolytic Potential of Tafenoquine in Female Volunteers Heterozygous for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PD Mahidol Variant) versus G6PD-Normal Volunteers. ( 28749773 )
2017
4
Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency. ( 28059001 )
2017
5
Prevalence of G6PD deficiency in Children with Hepatitis A. ( 28875002 )
2017
6
Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. ( 28067620 )
2017
7
Central Nervous System Symptoms Due to Transient Methemoglobinemia in a Child With G6PD Deficiency. ( 27879542 )
2017
8
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. ( 27914961 )
2017
9
G6PD Deficiency with Arnold-Chiari Malformation. ( 27981932 )
2016
10
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province]. ( 26829728 )
2016
11
Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population. ( 27029726 )
2016
12
Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community. ( 27519946 )
2016
13
A perfect storm: Tumor lysis syndrome with rasburicase-induced methemoglobinemia in a G6PD deficient adult. ( 27119769 )
2016
14
Plasma cell leukemia revealing a G6PD deficiency. ( 28034875 )
2016
15
Cost-effectiveness analysis of rapid diagnostic tests for G6PD deficiency in patients with Plasmodium vivax malaria in the Brazilian Amazon. ( 26864333 )
2016
16
G6PD Deficiency Does Not Enhance Susceptibility for Acquiring Helicobacter pylori Infection in Sardinian Patients. ( 27467818 )
2016
17
Prevalence of G6PD deficiency and Plasmodium falciparum parasites in asymptomatic school children living in southern Ghana. ( 27456336 )
2016
18
Screening for G6PD Deficiency Among Neonates with Neonatal Jaundice Admitted to Tertiary Care Center: A Need in Disguise. ( 26305316 )
2015
19
G6PD deficiency in male individuals infected by Plasmodium vivax malaria in the Brazilian Amazon: a cost study. ( 25889063 )
2015
20
Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario. ( 26139767 )
2015
21
Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. ( 26823837 )
2015
22
Origins and implications of neglect of G6PD deficiency and primaquine toxicity in Plasmodium vivax malaria. ( 25943156 )
2015
23
Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. ( 26479991 )
2015
24
First evaluation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in vivax malaria endemic regions in the Republic of Korea. ( 24853873 )
2014
25
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
26
Anesthetic Management of a Child With Severe Dystonia and G6PD Deficiency for Deep Brain Stimulation. ( 25390657 )
2014
27
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. ( 24460025 )
2014
28
Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia. ( 22552160 )
2013
29
Methemoglobinemia and hemolysis in a patient with G6PD deficiency treated with rasburicase. ( 22573495 )
2013
30
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. ( 23719252 )
2013
31
3'-UTR variations and G6PD deficiency. ( 23389243 )
2013
32
Glucose-6-phosphate dehydrogenase (G6PD)-deficient epithelial cells are less tolerant to infection by Staphylococcus aureus. ( 24223971 )
2013
33
Spatial distribution of G6PD deficiency variants across malaria-endemic regions. ( 24228846 )
2013
34
Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. ( 24218468 )
2013
35
G6PD deficiency in Plasmodium falciparum and Plasmodium vivax malaria-infected Cambodian patients. ( 23714236 )
2013
36
Dapsone Induced Methemoglobinemia and Hemolysis in a G6PD Deficient Girl, Possibly Aggravated by Aggressive Methylene Blue Therapy. ( 24082224 )
2013
37
Interesting case of G6PD deficiency anemia with severe hemolysis. ( 24014946 )
2013
38
The role of erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency in the pathogenesis of anemia in patients on hemodialysis. ( 24231476 )
2013
39
Kawasaki disease with G6PD deficiency - Report of one case and literature review. ( 22727889 )
2012
40
Association between glucose 6-phosphate dehydrogenase (G6PD) deficiency and fatal outcome of hepatitis E infection in middle-aged men. ( 22337191 )
2012
41
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants. ( 22139979 )
2012
42
Community expansion and gene geography of sickle cell trait and G6PD deficiency, and natural selection against malaria: experience from tribal land of India. ( 22264009 )
2012
43
Hemolysis and methemoglobinemia due to hepatitis E virus infection in patient with G6PD deficiency. ( 21302113 )
2011
44
G6PD deficiency and stroke in the CSSCD. ( 21328436 )
2011
45
Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli. ( 21507164 )
2011
46
Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells. ( 21246053 )
2011
47
Synchrony of G6PD activity and RBC fragility under oxidative stress exerted at normal and G6PD deficiency. ( 19941843 )
2010
48
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. ( 20051781 )
2010
49
The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. ( 20520804 )
2010
50
The first case of a class I glucose-6-phosphate dehydrogenase deficiency, G6PD Santiago de Cuba (1339 G > A), in a Chinese population as found in a survey for G6PD deficiency in northeastern and central China. ( 20200584 )
2010

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
2 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh38 Chromosome X, 154536002: 154536002
3 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
4 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh38 Chromosome X, 154534419: 154534419
5 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 GRCh37 Chromosome X, 153762771: 153762771
6 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 GRCh38 Chromosome X, 154534556: 154534556
7 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
8 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh38 Chromosome X, 154532269: 154532269
9 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
10 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh38 Chromosome X, 154533122: 154533122
11 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh37 Chromosome X, 153762340: 153762340
12 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh38 Chromosome X, 154534125: 154534125
13 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240
14 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh38 Chromosome X, 154533025: 154533025
15 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh37 Chromosome X, 153760686: 153760687
16 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh38 Chromosome X, 154532471: 154532472
17 G6PD NM_001042351.2(G6PD): c.*535G> T single nucleotide variant Uncertain significance rs1057515820 GRCh37 Chromosome X, 153759680: 153759680
18 G6PD NM_001042351.2(G6PD): c.*535G> T single nucleotide variant Uncertain significance rs1057515820 GRCh38 Chromosome X, 154531465: 154531465
19 G6PD NM_001042351.2(G6PD): c.*365G> A single nucleotide variant Uncertain significance rs1034742794 GRCh37 Chromosome X, 153759850: 153759850
20 G6PD NM_001042351.2(G6PD): c.*365G> A single nucleotide variant Uncertain significance rs1034742794 GRCh38 Chromosome X, 154531635: 154531635
21 G6PD NM_001042351.2(G6PD): c.771-11T> C single nucleotide variant Uncertain significance rs782622284 GRCh38 Chromosome X, 154533680: 154533680
22 G6PD NM_001042351.2(G6PD): c.771-11T> C single nucleotide variant Uncertain significance rs782622284 GRCh37 Chromosome X, 153761895: 153761895
23 G6PD NM_001042351.2(G6PD): c.-111A> G single nucleotide variant Likely benign rs111827785 GRCh38 Chromosome X, 154547570: 154547570
24 G6PD NM_001042351.2(G6PD): c.-111A> G single nucleotide variant Likely benign rs111827785 GRCh37 Chromosome X, 153775785: 153775785
25 G6PD NM_001042351.2(G6PD): c.1164C> T (p.Asn388=) single nucleotide variant Uncertain significance rs782623392 GRCh38 Chromosome X, 154532690: 154532690
26 G6PD NM_001042351.2(G6PD): c.1164C> T (p.Asn388=) single nucleotide variant Uncertain significance rs782623392 GRCh37 Chromosome X, 153760905: 153760905
27 G6PD NM_001042351.2(G6PD): c.864+14C> T single nucleotide variant Uncertain significance rs782416820 GRCh38 Chromosome X, 154533562: 154533562
28 G6PD NM_001042351.2(G6PD): c.864+14C> T single nucleotide variant Uncertain significance rs782416820 GRCh37 Chromosome X, 153761777: 153761777
29 G6PD NM_001042351.2(G6PD): c.582C> G (p.Asp194Glu) single nucleotide variant Uncertain significance rs145247580 GRCh38 Chromosome X, 154534400: 154534400
30 G6PD NM_001042351.2(G6PD): c.582C> G (p.Asp194Glu) single nucleotide variant Uncertain significance rs145247580 GRCh37 Chromosome X, 153762615: 153762615
31 G6PD NM_001042351.2(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 GRCh37 Chromosome X, 153760190: 153760190
32 G6PD NM_001042351.2(G6PD): c.*520G> A single nucleotide variant Uncertain significance rs782764609 GRCh37 Chromosome X, 153759695: 153759695
33 G6PD NM_001042351.2(G6PD): c.*520G> A single nucleotide variant Uncertain significance rs782764609 GRCh38 Chromosome X, 154531480: 154531480
34 G6PD NM_001042351.2(G6PD): c.*357G= single nucleotide variant Likely benign rs1050757 GRCh37 Chromosome X, 153759858: 153759858
35 G6PD NM_001042351.2(G6PD): c.*357G= single nucleotide variant Likely benign rs1050757 GRCh38 Chromosome X, 154531643: 154531643
36 G6PD NM_001042351.2(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 GRCh38 Chromosome X, 154531975: 154531975
37 G6PD NM_001042351.2(G6PD): c.485+13G> A single nucleotide variant Uncertain significance rs781898381 GRCh38 Chromosome X, 154535155: 154535155
38 G6PD NM_001042351.2(G6PD): c.485+13G> A single nucleotide variant Uncertain significance rs781898381 GRCh37 Chromosome X, 153763370: 153763370
39 G6PD NM_001042351.2(G6PD): c.120+7A> C single nucleotide variant Uncertain significance rs369904290 GRCh38 Chromosome X, 154546029: 154546029
40 G6PD NM_001042351.2(G6PD): c.120+7A> C single nucleotide variant Uncertain significance rs369904290 GRCh37 Chromosome X, 153774244: 153774244

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 KEGG:

37
# Name Kegg Source Accession
1 Glutathione metabolism hsa00480
2 Pentose phosphate pathway hsa00030

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 G6PD H6PD HBB PGD PGM1 SLCO1B1
2
Show member pathways
11.82 G6PD H6PD PGD
3 11.75 G6PD HBB PGD UGT1A1
4 11.59 G6PD PGD UGT1A1
5
Show member pathways
11.25 SLCO1B1 UGT1A1
6
Show member pathways
11.17 SLCO1B1 UGT1A1
7
Show member pathways
10.95 SLCO1B1 UGT1A1
8
Show member pathways
10.72 G6PD H6PD PGD PGM1
9
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:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.5 HBB HBG2 HP
2 endocytic vesicle lumen GO:0071682 9.26 HBB HP
3 hemoglobin complex GO:0005833 9.16 HBB HBG2
4 tertiary granule lumen GO:1904724 9.13 HBB HP PGM1
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBB HP

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.58 G6PD H6PD PGM1
2 cellular oxidant detoxification GO:0098869 9.49 HBB HP
3 response to hydrogen peroxide GO:0042542 9.48 HBB HP
4 positive regulation of cell death GO:0010942 9.46 HBB HP
5 acute-phase response GO:0006953 9.43 HP UGT1A1
6 glucose metabolic process GO:0006006 9.43 G6PD H6PD PGM1
7 oxygen transport GO:0015671 9.37 HBB HBG2
8 NADP metabolic process GO:0006739 9.32 G6PD H6PD
9 pentose-phosphate shunt, oxidative branch GO:0009051 9.16 G6PD PGD
10 pentose biosynthetic process GO:0019322 8.96 G6PD PGD
11 pentose-phosphate shunt GO:0006098 8.8 G6PD H6PD PGD

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

# 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 carrier 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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