Glucosephosphate Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 43 15 17
G6pd Deficiency 74 52 25 54 42
Glucose 6 Phosphate Dehydrogenase Deficiency 74 25 29 6
Glucose-6-Phosphate Dehydrogenase Deficiency 12 52 25
Deficiency of Glucose-6-Phosphate Dehydrogenase 25 71
Glucose 6-Phosphate Dehydrogenase Deficiency 36
Anemia, Hemolytic, Due to G6pd Deficiency 39
Hemolytic Anemia Due to G6pd Deficiency 52
Deficiency of G-6pd 12
G6pdd 25


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Disease Ontology 12 DOID:2862
KEGG 36 H01375
MeSH 43 D005955
NCIt 49 C98933
SNOMED-CT 67 62403005
UMLS 71 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

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. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition.

MalaCards based summary : Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to 6-phosphogluconate dehydrogenase deficiency and anemia, nonspherocytic hemolytic, due to g6pd deficiency. 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 leucovorin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and skin.

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

NIH Rare Diseases : 52 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.

MedlinePlus : 42 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

KEGG : 36 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans.

Wikipedia : 74 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 top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 32.9 PGD G6PD
2 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.8 HP G6PD ACP1
3 sickle cell disease 31.4 HBG2 HBB G6PD
4 kernicterus 31.2 UGT1A8 UGT1A1 G6PD ABO
5 methemoglobinemia 31.0 HP HBG2 HBB G6PD
6 blackwater fever 30.8 HP G6PD
7 hemoglobin e disease 30.8 HBE1 HBB
8 gilbert syndrome 30.8 UGT1A8 UGT1A1 SLCO1B1 HP G6PD
9 blood group incompatibility 30.7 G6PD ABO
10 thalassemia 30.7 UGT1A1 HP HBG2 HBE1 HBB G6PD
11 plasmodium falciparum malaria 30.7 HP HBB G6PD ABO
12 neonatal jaundice 30.6 UGT1A8 UGT1A1 SLCO1B1 PKLR G6PD
13 congenital methemoglobinemia 30.6 HBG2 G6PD
14 hemoglobinopathy 30.6 UGT1A1 HP HBE1 HBB G6PD
15 acquired methemoglobinemia 30.6 HBG2 G6PD
16 beta-thalassemia 30.5 UGT1A1 HBG2 HBE1 HBB G6PD
17 bilirubin, serum level of, quantitative trait locus 1 30.5 UGT1A8 UGT1A1
18 plasmodium vivax malaria 30.5 G6PD CYP2D6 ACKR1
19 crigler-najjar syndrome, type ii 30.4 UGT1A8 UGT1A1
20 histiocytosis-lymphadenopathy plus syndrome 30.3 HBB G6PD
21 sickle cell anemia 30.2 UGT1A8 UGT1A1 HBG2 HBB G6PD ACKR1
22 cholelithiasis 30.1 UGT1A8 UGT1A1 HP HBB
23 congenital nonspherocytic hemolytic anemia 30.0 PKLR G6PD
24 hemoglobin h disease 29.9 HBG2 HBE1 HBB G6PD
25 alpha-thalassemia 29.9 UGT1A1 HP HBG2 HBE1 HBB G6PD
26 bilirubin metabolic disorder 29.9 UGT1A8 UGT1A1 SLCO1B1 SLC22A7 HP HBG2
27 hemolytic anemia 29.6 UGT1A1 PKLR HP HBG2 HBB G6PD
28 pyruvate kinase deficiency of red cells 29.5 PKLR G6PD
29 deficiency anemia 29.4 PKLR HP HBG2 HBB G6PD
30 hereditary elliptocytosis 29.4 HBE1 HBB G6PD ACKR1 ABO
31 hereditary spherocytosis 28.9 UGT1A8 UGT1A1 PKLR HP HBG2 HBB
32 malaria 28.0 PKLR HP HBE1 HBB G6PD CYP2D6
33 leigh syndrome, french canadian type 11.3
34 viral hepatitis 10.6
35 kidney disease 10.5
36 acute kidney failure 10.5
37 rare constitutional hemolytic anemia due to an enzyme disorder 10.5
38 typhoid fever 10.5
39 cataract 10.5
40 trimethoprim allergy 10.5 HP G6PD
41 hemoglobinuria 10.5
42 irinotecan toxicity 10.5 UGT1A1 SLCO1B1
43 hepatitis a 10.4
44 rh isoimmunization 10.4 G6PD ABO
45 lymphosarcoma 10.4 H6PD G6PD
46 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.4 HBG2 HBB
47 diabetes mellitus, ketosis-prone 10.4
48 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.4 HBG2 HBB
49 bacterial infectious disease 10.3
50 epicardium cancer 10.3 UGT1A8 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 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
leucovorin Approved Phase 4 58-05-9 6006 143
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
Prilocaine Approved Phase 4 721-50-6 4906
Nitric Oxide Approved Phase 4 10102-43-9 145068
Racepinephrine Approved Phase 4 329-65-7 838
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Dapsone Approved, Investigational Phase 4 80-08-0 2955
Lumefantrine Approved Phase 4 82186-77-4 6437380
Artemether Approved Phase 4 71963-77-4 119380 68911
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
Primaquine Approved Phase 4 90-34-6 4908
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
17 Folic Acid Antagonists Phase 4
18 Pharmaceutical Solutions Phase 4
19 Natriuretic Agents Phase 4
20 Epinephryl borate Phase 4
21 diuretics Phase 4
22 Artemisinins Phase 4
23 Artemisinine Phase 4
24 Anti-Bacterial Agents Phase 4
25 Artemether, Lumefantrine Drug Combination Phase 4
26 Neurotransmitter Agents Phase 4
27 Fibrinolytic Agents Phase 4
28 Antipyretics Phase 4
29 Platelet Aggregation Inhibitors Phase 4
30 Cyclooxygenase Inhibitors Phase 4
31 Purinergic P2Y Receptor Antagonists Phase 4
32 Anti-Inflammatory Agents Phase 4
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4
34 Analgesics, Non-Narcotic Phase 4
35 Antirheumatic Agents Phase 4
36 Analgesics Phase 4
37 Anti-Infective Agents Phase 4
38 Antiparasitic Agents Phase 4
39 Antiprotozoal Agents Phase 4
40 Chloroquine diphosphate Phase 4 50-63-5
41 Antimalarials Phase 4
42 Anthelmintics Phase 4
tafenoquine Approved, Investigational Phase 3 106635-80-7 115358
Artesunate Approved, Investigational Phase 3 88495-63-0 6917864 5464098
Amodiaquine Approved, Investigational Phase 3 86-42-0 2165
46 Orange Approved Phase 3
Mefloquine Approved, Investigational Phase 3 53230-10-7 4046
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
2 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
3 Safety, Tolerability and Pilot Efficacy of Short Course, High Dose Primaquine Treatment for Liver Stages of Plasmodium Vivax Infection Unknown status NCT02364583 Phase 4 Primaquine
4 Evaluating the Efficacy of Chloroquine for the Treatment of Plasmodium Vivax Infections in Central Vietnam Unknown status NCT02610686 Phase 4 Chloroquine
5 Evaluation of Ureteral Patency in the Post-indigo Carmine Era Completed NCT02677623 Phase 4 Pyridium;Sodium Fluorescein;Mannitol
6 PEG-Electrolyte Solution (FORTRANS®) With Mentholyptus Drops (Halls®) Versus Reduced Volume Ascorbic Acid Supplemented PEG-Electrolyte (MoviPrep®) in Colonoscopy Preparation: A Randomised Controlled Study Completed NCT01788709 Phase 4
7 Impact of Mass Screening and Selective Treatment With Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in High Endemic Area, Belu Regency, Nusa Tenggara Timur Province, Indonesia: a Randomized Cluster Trial Completed NCT01878357 Phase 4 dihydroartemisinin-piperaquine;primaquine
8 The Tolerability and Safety of Low Dose Primaquine for Transmission Blocking in Symptomatic Falciparum Infected Cambodians Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
9 ACZ ACN 01. A Phase 4, Double-Blind, Multicenter, Randomized, Vehicle-Controlled, Cross-Over Study to Further Evaluate the Risk of Hematological Adverse Events in G6PD-Deficient Subjects With Acne Vulgaris Treated With ACZONE™ (Dapsone) Gel, 5%. Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
10 A Study to Assess Safety of Current Standard Malaria Treatment and an Assessment of Glucose-6-dehydrogenase Status in South-east Bangladesh Completed NCT02389374 Phase 4 chloroquine;Artemether-lumefantrine combination;Primaquine;Primaquine
11 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Completed NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
12 G6PD Assessment Before Primaquine for Radical Treatment of Vivax Malaria Recruiting NCT02876549 Phase 4 Chloroquine;Primaquine 0.25 mg/kg/day;Primaquine 0.75 mg/kg weekly
13 A Randomized, Double-blind, Active-Controlled Trial Comparing the Safety and Efficacy of Aspirin Versus Clopidogrel in Stroke Patients With Glucose-6-phosphate Dehydrogenase Deficiency Not yet recruiting NCT04088513 Phase 4 Aspirin;Clopidogrel
14 Developing a Methodology to Assess 8-aminoquinoline Associated Haemolytic Risk in Females Heterozygous for G6PD in Endemic Populations Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
15 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
16 Primaquine's Gametocytocidal Efficacy in Malaria Asymptomatic Carriers Treated With Dihydroartemisinin-piperaquine in The Gambia Completed NCT01838902 Phase 3 DHA-PPQ;PQ (0.75);PQ (0.4);PQ (0.2)
17 A Placebo Controlled, Randomised Evaluation of an Eight Week Primaquine Regimen for the Treatment of Vivax Malaria. Completed NCT00158587 Phase 3 primaquine
18 Evaluation of the Safety of Primaquine in Combination With Artemether-lumefantrine in Glucose-6-phosphate Dehydrogynase Deficient Males With an Asymptomatic Malaria Infection in Burkina Faso (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
19 Evaluation of the Efficacy and Safety of Primaquine for Clearance of Gametocytes in Uncomplicated Falciparum Malaria in Uganda Completed NCT01365598 Phase 3 Primaquine
20 A Double Blind Randomized Controlled Trial of Dihydroartemisinin-piperaquine Alone and in Combination With Single Dose Primaquine to Reduce Post-treatment Malaria Transmission. Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
21 Randomized Trial of the Safety and Effectiveness of Lapdap and Coartemether for Uncomplicated Malaria in Operational Settings Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
22 A Randomized, Double-Blind, Double Dummy, Comparative, Multicenter Study to Assess the Incidence of Hemolysis, Safety, and Efficacy of Tafenoquine (SB-252263, WR238605) Versus Primaquine in the Treatment of Subjects With Plasmodium Vivax Malaria Completed NCT02216123 Phase 3 Tafenoquine;Tafenoquine Placebo;Chloroquine;Primaquine;Primaquine Placebo
23 Artesunate-mefloquine vs Chloroquine in Patients With Acute Uncomplicated P. Knowlesi and P. Vivax Malaria: a Randomized Open Label Trial in Sabah, Malaysia Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
24 Comparison of the Efficacy and Safety of Two ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria in North Sumatera, Indonesia: 1 Year Followup Completed NCT01288820 Phase 3 Dihydroartemisinin/piperaquine + primaquine;Artesunate-amodiaquine + primaquine
25 An Open Label Randomized Comparative Study to Assess the Efficacy and Tolerability of Eurartesim® Versus Chloroquine and Nonrelapse Therapy With Primaquine for Uncomplicated Plasmodium Vivax Monoinfection Malaria Recruiting NCT03208907 Phase 3 CQ coadministered with PQ;DHA-PQP coadministered with PQ;CQ and PQ starting on Day 42;DHA-PQP and PQ starting on Day 42
26 Steroids, Thiamine and Ascorbic Acid Supplementation in Septic Shock (STASIS): A Prospective Crossover Randomized Controlled Study Not yet recruiting NCT04134403 Phase 3 STASIS
27 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
28 A Phase 2b Multicenter, Single Dose, Randomized, Double Blind, Placebo-Controlled, Parallel-Group Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates Completed NCT01887327 Phase 2 Stannsoporfin;Placebo
29 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
30 A Randomised, Single-blinded Controlled Treatment Trial of Subclinical Vivax Infections With Primaquine in Nong Province, Laos Completed NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
31 Malaria Infection Diagnosed by PCR as a Means of Evaluating Pre-erythrocytic Candidate Malaria Vaccines Completed NCT00121823 Phase 1, Phase 2
32 A Pilot Study To Determine The Toxicity Of The Addition Of Rituximab To The Induction And Consolidation Phases And The Addition Of Rasburicase To The Reduction Phase In Children With Newly Diagnosed Advanced B-Cell Leukemia/Lymphoma Treated With LMB/FAB Therapy Completed NCT00057811 Phase 2 doxorubicin hydrochloride;cyclophosphamide;methotrexate;rasburicase;leucovorin calcium;prednisone;methylprednisolone;cytarabine;etoposide;vincristine sulfate;hydrocortisone sodium succinate
33 PD-1 Antibody Combined With COX Inhibitor in MSI-H/dMMR or High TMB Colorectal Cancer: a Single Arm Phase II Study Recruiting NCT03638297 Phase 2 PD-1 antibody + cox inhibitor
34 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
35 Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in Glucose 6-phosphate Dehydrogenase Deficient Patients Recruiting NCT03529396 Phase 2 Chloroquine;Primaquine;Primaquine;Chloroquine;Primaquine
36 An Open Label, Non-comparative, Multicenter Study to Assess the Pharmacokinetics, Safety and Efficacy of Tafenoquine (SB-252263, WR238605) in the Treatment of Pediatric Subjects With Plasmodium Vivax Malaria Recruiting NCT02563496 Phase 2 Tafenoquine;Chloroquine
37 High-dose Intravenous Vitamin C as an Adjunctive Treatment for Sepsis in Rwanda: a Feasibility Trial Not yet recruiting NCT04088591 Phase 2 Ascorbic Acid 500Mg/Ml Inj;Dextrose in Water
38 A Phase I Study to Investigate the Hemolytic Potential of Tafenoquine in Healthy Subjects With Glucose-6-phosphate Dehydrogenase Deficiency and the Safety and Tolerability of Tafenoquine in Acute Plasmodium Vivax Malaria Patients With Glucose-6-phosphate Dehydrogenase Deficiency Completed NCT01205178 Phase 1 Chloroquine;Primaquine;Tafenoquine
39 Phase 1, Open-Label Study to Evaluate Potential Pharmacokinetic Interaction of Orally Administered Primaquine and Chloroquine in Healthy Thai Adult Subjects Completed NCT01218932 Phase 1 A;B
40 Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen Completed NCT03934450 Phase 1 RPQ;SPQ;Primaquine Phosphate;Placebo
41 Open Label Randomized Controlled Trial Pharmacokinetic and Vitro Transmission Blocking Activities Study of Primaquine Compare to Methylene Blue in Healthy Volunteer Both G6PD Normal and G6PD Deficiency Completed NCT01668433 Phase 1 Regimens (Primaquine, Methylene blue)
42 Open-Label Study to Evaluate Safety, Tolerability, Potential Pharmacokinetic Interactions and Mosquito-Lethal Effects of Orally Administered Ivermectin, Primaquine, Dihydroartemisinin-Piperaquine, and Albendazole in Healthy Adult Subjects Completed NCT02568098 Phase 1 IVM, IVM and PQ, IVM and DHA-PQP, IVM and DHA-PQP and PQ;PQ and DHA-PQP and PQ;DHA-PQP
43 Metabolism and Pharmacokinetics of Primaquine Enantiomers in G6PD Deficient Human Volunteers Receiving a Five Day Dose Regimen Not yet recruiting NCT04073953 Phase 1 RPQ;SPQ;Placebo
44 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
45 Correlation of G6PD Activity Across Different Sample Sources, and Different G6PD Testing Platforms Completed NCT02069236
46 Evaluation of a Point-of-care G6PD Diagnostic Test Completed NCT02104518
47 Effect of Glucose-6-phosphate Dehydrogenase Deficiency on Donor Red Blood Cell Storage Completed NCT04081272 Sodium Chromate Cr51
48 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
49 A New Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine
50 Improving the Radical Cure of Vivax Malaria: A Multicentre Randomised Comparison of Short and Long Course Primaquine Regimens Completed NCT01814683 Primaquine;Primaquine;Placebo

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:

Testes, Heart, Skin, Lung, Liver, Spleen, Eye

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 1856)
# Title Authors PMID Year
Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. 54 61 6
2253938 1990
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. 61 6
1303173 1992
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. 61 6
2572288 1989
Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. 61 6
2912886 1989
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. 61 6
3393536 1988
Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. 61 6
7106752 1982
The effect of the coinheritance of Glucose-6-phosphate dehydrogenase deficiency on the severity of sickle cell disease. 61 42
31187752 2019
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. 6
10734064 2000
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. 6
1978554 1990
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. 6
2321910 1990
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. 6
2503817 1989
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). 6
2836867 1988
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. 6
2895981 1988
[Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia]. 6
7291768 1981
Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. 6
472761 1979
A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. 6
669721 1978
A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia. 6
903703 1977
Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. 6
5448 1976
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. 6
5492291 1970
A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). 6
4974311 1969
Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). 6
4388132 1967
A novel mutation of the ITGB2 gene in a Chinese Zhuang minority patient with leukocyte adhesion deficiency type 1 and glucose-6-phosphate dehydrogenase deficiency. 42
31374327 2019
Study of Clinico-hematological Correlation in Cases of Glucose-6-Phosphate Dehydrogenase Estimation in a Tertiary Care Hospital. 42
31559787 2019
The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. 54 61
20520804 2010
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 54 61
20426517 2010
Screening for glucose-6-phosphate dehydrogenase deficiency in blood donors. 54 61
20423573 2010
Prevalence of glucose-6-phosphate dehydrogenase deficiency and sickle cell trait among blood donors in Riyadh. 54 61
20376264 2010
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. 54 61
20051781 2010
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and senile cataract in a Sardinian male population, Italy. 54 61
19995205 2009
Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. 54 61
19546473 2009
Impact of the method of G6PD deficiency assessment on genetic association studies of malaria susceptibility. 54 61
19789650 2009
[Genetic diagnosis for female carriers of glucose-6-phosphate dehydrogenase deficiency by RT-PCR-DGGE]. 54 61
19695182 2009
Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. 54 61
19223928 2009
Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. 54 61
19589177 2009
Glucose-6-phosphate dehydrogenase deficiency in an endemic area for malaria in Manaus: a cross-sectional survey in the Brazilian Amazon. 54 61
19370159 2009
Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia. 54 61
19224086 2009
Central retinal vein occlusion in an Army Ranger with glucose-6-phosphate dehydrogenase deficiency. 54 61
19739477 2009
Predictors of severe hemolysis in patients with glucose-6-phosphate dehydrogenase deficiency following exposure to oxidant stresses. 54 61
20118060 2009
Brucellosis triggering hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency. 54 61
19494543 2009
Glucose-6-phosphate dehydrogenase deficiency associated stuttering priapism: report of a case. 54 61
18823322 2008
Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates. 54 61
19675737 2008
[Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in the sub-Saharan immigrant population of the Center and South Maresme region, Catalonia, Spain]. 54 61
18582416 2008
Evaluation of glucose-6-phosphate dehydrogenase deficiency without hemolysis in icteric newborns at Mazandaran province, Iran. 54 61
18817276 2008
[Glucose-6-phosphate dehydrogenase deficiency: clinical presentation and eliciting factors]. 54 61
18547022 2008
New onset diabetes complicated by haemolysis and rhabdomyolysis: a case report and review of the literature. 54 61
18485212 2008
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy. 54 61
18385045 2008
Prevalence of glucose-6-phosphate dehydrogenase deficiency in Northern Greece. 54 61
18290815 2008
Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews. 54 61
18164966 2008
High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. 54 61
19112496 2008
Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Isfahan, Iran: a quantitative assay. 54 61
18573772 2008

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 G6PD NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu)SNV Pathogenic 10387 rs137852328 X:153762340-153762340 X:154534125-154534125
2 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His)SNV Pathogenic 100059 rs72554664 X:153760472-153760472 X:154532257-154532257
3 G6PD NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)SNV Pathogenic 10422 rs72554665 X:153760484-153760484 X:154532269-154532269
4 G6PD NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)SNV Pathogenic 93493 rs398123546 X:153760605-153760605 X:154532390-154532390
5 G6PD NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)SNV Pathogenic 93499 rs78365220 X:153763485-153763485 X:154535270-154535270
6 G6PD NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)SNV Pathogenic 100058 rs72554665 X:153760484-153760484 X:154532269-154532269
7 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)SNV Pathogenic/Likely pathogenic 100057 rs5030868 X:153762634-153762634 X:154534419-154534419
8 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met)SNV Pathogenic/Likely pathogenic 10386 rs137852327 X:153761337-153761337 X:154533122-154533122
9 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met)SNV drug response 37123 rs1050828 X:153764217-153764217 X:154536002-154536002
10 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)SNV Conflicting interpretations of pathogenicity 100055 rs1050829 X:153763492-153763492 X:154535277-154535277
11 G6PD NM_001360016.2(G6PD):c.120+7A>CSNV Conflicting interpretations of pathogenicity 368103 rs369904290 X:153774244-153774244 X:154546029-154546029
12 G6PD NM_001360016.2(G6PD):c.486-60C>GSNV Conflicting interpretations of pathogenicity 10374 rs2515904 X:153762771-153762771 X:154534556-154534556
13 G6PD NM_001360016.2(G6PD):c.1288-14TC[2]short repeat Conflicting interpretations of pathogenicity 193829 rs199586268 X:153760686-153760687 X:154532471-154532472
14 G6PD NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)SNV Conflicting interpretations of pathogenicity 10388 rs76723693 X:153761240-153761240 X:154533025-154533025
15 G6PD NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)SNV Conflicting interpretations of pathogenicity 368101 rs145247580 X:153762615-153762615 X:154534400-154534400
16 G6PD NM_001360016.2(G6PD):c.*520G>ASNV Uncertain significance 368094 rs782764609 X:153759695-153759695 X:154531480-154531480
17 G6PD NM_001360016.2(G6PD):c.*535G>TSNV Uncertain significance 368093 rs1057515820 X:153759680-153759680 X:154531465-154531465
18 G6PD NM_001360016.2(G6PD):c.*365G>ASNV Uncertain significance 368095 rs1034742794 X:153759850-153759850 X:154531635-154531635
19 G6PD NM_001360016.2(G6PD):c.771-11T>CSNV Uncertain significance 368100 rs782622284 X:153761895-153761895 X:154533680-154533680
20 G6PD NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)SNV Uncertain significance 368098 rs782623392 X:153760905-153760905 X:154532690-154532690
21 G6PD NM_001360016.2(G6PD):c.864+14C>TSNV Uncertain significance 368099 rs782416820 X:153761777-153761777 X:154533562-154533562
22 G6PD NM_001360016.2(G6PD):c.*25C>TSNV Uncertain significance 368097 rs781866772 X:153760190-153760190 X:154531975-154531975
23 G6PD NM_001360016.2(G6PD):c.485+13G>ASNV Uncertain significance 368102 rs781898381 X:153763370-153763370 X:154535155-154535155
24 G6PD NM_001360016.2(G6PD):c.*357=SNV Likely benign 368096 rs1050757 X:153759858-153759858 X:154531643-154531643
25 G6PD NM_001099856.5(IKBKG):c.190-4418T>CSNV Likely benign 368104 rs111827785 X:153775785-153775785 X:154547570-154547570
26 G6PD G6PD:c.1455-13T>CSNV Benign/Likely benign 93494 rs2071429 X:153760508-153760508 X:154532293-154532293
27 G6PD NM_001360016.2(G6PD):c.1311= (p.Tyr437=)SNV Benign/Likely benign 10366 rs2230037 X:153760654-153760654 X:154532439-154532439
28 G6PD NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)SNV Benign 10365 rs2230036 X:153760953-153760953 X:154532738-154532738
29 G6PD NM_000402.4(G6PD):c.944G>A (p.Arg315His)SNV Benign 10362 rs74575103 X:153761801-153761801 X:154533586-154533586

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:

# 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 11.83 UGT1A1 PGD G6PD
Show member pathways
11.53 UGT1A8 UGT1A1 CYP2D6
Show member pathways
11.51 UGT1A1 SLCO1B1 SLC22A7 CYP2D6
Show member pathways
11.39 PGD H6PD G6PD
Show member pathways
11.32 UGT1A8 UGT1A1 SLCO1B1
Show member pathways
11.13 UGT1A8 UGT1A1 SLCO1B1 CYP2D6
Show member pathways
10.96 UGT1A1 SLCO1B1 CYP2D6
11 10.1 PGD G6PD

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 9.46 HP HBG2 HBE1 HBB
2 endocytic vesicle lumen GO:0071682 9.26 HP HBB
3 hemoglobin complex GO:0005833 9.13 HBG2 HBE1 HBB
4 haptoglobin-hemoglobin complex GO:0031838 8.92 HP HBG2 HBE1 HBB

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.84 PKLR H6PD G6PD ABO
2 steroid metabolic process GO:0008202 9.75 UGT1A8 UGT1A1 CYP2D6
3 response to organic cyclic compound GO:0014070 9.73 UGT1A1 HBE1 G6PD
4 retinoic acid metabolic process GO:0042573 9.59 UGT1A8 UGT1A1
5 drug metabolic process GO:0017144 9.58 UGT1A1 CYP2D6
6 estrogen metabolic process GO:0008210 9.57 UGT1A1 CYP2D6
7 organic anion transport GO:0015711 9.55 SLCO1B1 SLC22A7
8 hydrogen peroxide catabolic process GO:0042744 9.54 HBG2 HBE1 HBB
9 NADP metabolic process GO:0006739 9.52 H6PD G6PD
10 xenobiotic glucuronidation GO:0052697 9.51 UGT1A8 UGT1A1
11 flavonoid glucuronidation GO:0052696 9.49 UGT1A8 UGT1A1
12 heterocycle metabolic process GO:0046483 9.48 UGT1A1 CYP2D6
13 coumarin metabolic process GO:0009804 9.46 UGT1A8 CYP2D6
14 cellular oxidant detoxification GO:0098869 9.46 HP HBG2 HBE1 HBB
15 flavone metabolic process GO:0051552 9.43 UGT1A8 UGT1A1
16 pentose-phosphate shunt, oxidative branch GO:0009051 9.4 PGD G6PD
17 negative regulation of steroid metabolic process GO:0045939 9.32 UGT1A8 UGT1A1
18 pentose biosynthetic process GO:0019322 9.26 PGD G6PD
19 oxygen transport GO:0015671 9.13 HBG2 HBE1 HBB
20 pentose-phosphate shunt GO:0006098 8.8 PGD H6PD G6PD

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.78 HBG2 HBE1 HBB CYP2D6
2 NADP binding GO:0050661 9.63 PGD H6PD G6PD
3 peroxidase activity GO:0004601 9.61 HBG2 HBE1 HBB
4 oxygen binding GO:0019825 9.58 HBG2 HBE1 HBB
5 retinoic acid binding GO:0001972 9.54 UGT1A8 UGT1A1
6 transferase activity, transferring hexosyl groups GO:0016758 9.54 UGT1A8 UGT1A1 ABO
7 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.52 SLCO1B1 SLC22A7
8 hemoglobin binding GO:0030492 9.51 HP HBB
9 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.49 H6PD G6PD
10 oxygen carrier activity GO:0005344 9.43 HBG2 HBE1 HBB
11 organic acid binding GO:0043177 9.33 HBG2 HBE1 HBB
12 glucose-6-phosphate dehydrogenase activity GO:0004345 9.32 H6PD G6PD
13 haptoglobin binding GO:0031720 9.13 HBG2 HBE1 HBB
14 hemoglobin alpha binding GO:0031721 8.8 HBG2 HBE1 HBB

Sources for Glucosephosphate Dehydrogenase Deficiency

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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