MCID: GLC009
MIFTS: 52

Glucosephosphate Dehydrogenase Deficiency

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

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 45 15 17
G6pd Deficiency 77 54 26 56 44
Glucose 6 Phosphate Dehydrogenase Deficiency 77 26 30 6
Glucose-6-Phosphate Dehydrogenase Deficiency 12 54 26
Deficiency of Glucose-6-Phosphate Dehydrogenase 26 74
Glucose 6-Phosphate Dehydrogenase Deficiency 38
Anemia, Hemolytic, Due to G6pd Deficiency 41
Hemolytic Anemia Due to G6pd Deficiency 54
Glucose-6-Phosphate Dehydrogenase 13
Deficiency of G-6pd 12
G6pdd 26

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
KEGG 38 H01375
MeSH 45 D005955
NCIt 51 C98933
SNOMED-CT 69 62403005
ICD10 34 D55-D59
UMLS 74 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus : 44 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 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 Primaquine and Mefloquine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes 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).

Genetics Home Reference : 26 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 : 54 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.

Wikipedia : 77 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 262)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 32.9 G6PD PGD
2 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.5 G6PD HP
3 neonatal jaundice 31.2 G6PD SLCO1B1 UGT1A1
4 bilirubin metabolic disorder 31.0 G6PD HP SLCO1B1 UGT1A1
5 kernicterus 31.0 G6PD UGT1A1
6 hemolytic anemia 30.4 G6PD HBB HBG2 HP
7 gilbert syndrome 30.4 G6PD SLCO1B1 UGT1A1 UGT1A8
8 sickle cell disease 30.3 G6PD HBB HBG2
9 blackwater fever 30.3 G6PD HP
10 crigler-najjar syndrome, type ii 30.3 UGT1A1 UGT1A8
11 bilirubin, serum level of, quantitative trait locus 1 30.3 UGT1A1 UGT1A8
12 congenital methemoglobinemia 30.2 G6PD HBG2
13 methemoglobinemia 30.1 G6PD HBB HBG2 HP
14 plasmodium falciparum malaria 30.0 G6PD HBB HP
15 hemoglobinopathy 30.0 HBB HP UGT1A1
16 sickle cell anemia 29.9 G6PD HBB HBG2 UGT1A1
17 congenital hemolytic anemia 29.9 G6PD HBB HP
18 deficiency anemia 29.9 G6PD HBB HBG2 HP
19 leber congenital amaurosis 4 29.8 UGT1A1 UGT1A8
20 hereditary spherocytosis 29.8 G6PD HBB UGT1A1
21 beta-thalassemia 29.8 G6PD HBB HBG2 UGT1A1
22 cholelithiasis 29.5 HBB UGT1A1
23 hemoglobin h disease 29.4 G6PD HBB HBG2
24 alpha-thalassemia 29.0 G6PD HBB HBG2 HP UGT1A1
25 congenital nonspherocytic hemolytic anemia 11.7
26 leigh syndrome, french canadian type 11.2
27 malaria 10.7
28 hepatitis 10.6
29 thalassemia 10.5
30 cataract 10.4
31 viral hepatitis 10.4
32 pyridoxine deficiency anemia 10.4
33 typhoid fever 10.4
34 hepatitis a 10.3
35 hemoglobin e disease 10.3
36 diabetes mellitus, ketosis-prone 10.2
37 diabetes mellitus 10.2
38 spotted fever 10.2
39 priapism 10.2
40 irinotecan toxicity 10.2 SLCO1B1 UGT1A1
41 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.2
42 acquired methemoglobinemia 10.2 G6PD HBG2
43 pyruvate kinase deficiency of red cells 10.2
44 chronic granulomatous disease 10.2
45 leukemia 10.2
46 retinal vein occlusion 10.2
47 boutonneuse fever 10.2
48 hepatitis e 10.2
49 neutrophil actin dysfunction 10.2
50 pigmentation disease 10.2 SLCO1B1 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 117)
# 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
Mefloquine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53230-10-7 4046
3
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 88495-63-0 5464098 6917864
4
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
5
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-05-7 2719
6
Dapsone Approved, Investigational Phase 4,Phase 3 80-08-0 2955
7
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
8
Artemether Approved Phase 4,Phase 2,Phase 3,Not Applicable 71963-77-4 68911 119380
9
Lumefantrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 82186-77-4 6437380
10
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
11
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
12
Amodiaquine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 86-42-0 2165
13
Proguanil Approved Phase 4,Phase 3,Phase 1,Phase 2 500-92-5 4923
14
Atovaquone Approved Phase 4 95233-18-4 74989
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
Dihydroartemisinin Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
18
Piperaquine Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
19
Pyronaridine Investigational Phase 4 74847-35-1 5485198
20 Pharmaceutical Solutions Phase 4,Phase 2
21 Protective Agents Phase 4,Not Applicable
22
Bilirubin Phase 4 635-65-4, 69853-43-6 21252250 5280352
23 Antioxidants Phase 4,Not Applicable
24 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Liver Extracts Phase 4
28 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 Anthelmintics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Antiviral Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
31 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
32 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Bacterial Agents Phase 4,Phase 3
39 Vitamin B9 Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
40 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
41 Folate Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
42 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
43 Artemisinins Phase 4,Phase 3,Phase 2,Phase 1
44 Artemisinine Phase 4,Phase 3,Phase 2,Phase 1
45 Artemether, Lumefantrine Drug Combination Phase 4,Phase 2,Phase 3,Not Applicable
46 Anti-Infective Agents, Urinary Phase 4,Phase 3,Phase 1,Phase 2
47 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
48 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
49 Atovaquone, proguanil drug combination Phase 4
50 alanine Phase 4

Interventional clinical trials:

(show top 50) (show all 90)
# 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 Evaluating the Efficacy of Chloroquine for the Treatment of Plasmodium Vivax Infections in Central Vietnam Unknown status NCT02610686 Phase 4 Chloroquine
6 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
7 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
8 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
9 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
10 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)
11 Pharmacokinetic and Pharmacodynamic Study of Mefloquine and Dihydroartemisinin-Piperaquine in Healthy Subjects Completed NCT02324738 Phase 4 Mefloquine and Dihydroartemisinin-piperaquine;Mefloquine
12 Effect of Liver and Blood-stage Treatment on Subsequent Plasmodium Reinfection and Morbidity Completed NCT02143934 Phase 4 Primaquine;Placebo;Chloroquine;Artemether Lumefantrine
13 Ethiopia Antimalarial in Vivo Efficacy Study 2012 Completed NCT01680406 Phase 4 Artemether-lumefantrine combination;Primaquine;Chloroquine
14 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Completed NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
15 Tracking Resistance to Artemisinin (TRAC) Completed NCT01350856 Phase 4 Artesunate 2;Artesunate 4
16 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
17 Drug Combinations of Atovaquone-Proguanil (AP) With ACT Recruiting NCT03726593 Phase 4 Artesunate and Pyronaridine;Atovaquone Proguanil and Artesunate Pyronaridine;Atovaquone Proguanil and Artesunate Mefloquine
18 Reducing the Risk of P. Vivax After Falciparum Infections in Co-endemic Areas - a Randomized Controlled Trial Not yet recruiting NCT03916003 Phase 4 primaquine
19 Assessing a Risk Model for G6PD Deficiency Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
20 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
21 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4 Supervised primaquine treatment;Unsupervised primaquine treatment
22 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
23 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
24 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
25 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
26 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
27 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3 primaquine
28 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
29 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
30 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
31 A Study by the Tracking Resistance to Artemisinin Collaboration (TRAC) Completed NCT02453308 Phase 2, Phase 3 ACT;TACT
32 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3 sulfadoxine-pyrimethamine and chlorproguanil-dapsone
33 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)
34 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3 Paracetamol
35 Study to Compare the Triple ACT AL+AQ With the ACT AL in Cambodia and Vietnam Recruiting NCT03355664 Phase 3 ACT;TACT
36 Comparison of Arterolane-piperaquine Versus Arterolane-piperaquine+Mefloquine Versus Artemether-lumefantrine in Kenyan Children Recruiting NCT03452475 Phase 3 Arterolane-piperaquine;Arterolane-piperaquine+mefloquine;Artemether-lumefantrine
37 A Trial to Compare the Efficacy, Safety and Tolerability of Combinations of 3 Anti-malarial Drugs Against Combinations of 2 Anti-malarial Drugs (Asia) Not yet recruiting NCT03939104 Phase 3 Artemether-lumefantrine+amodiaquine;Artemether-lumefantrine+placebo;Artesunate-piperaquine+mefloquine;Artesunate-piperaquine+placebo OR Artesunate-mefloquine
38 A Study by the Development of Triple Artemisinin Combination Therapies (DeTACT) Collaboration (Africa) Not yet recruiting NCT03923725 Phase 3 Artemether-lumefantrine+ Amodiaquine (AL+AQ);Artemether-lumefantrine + placebo (AL+PBO);Artesunate-piperaquine+mefloquine (AS-PPQ+MQ);Artesunate-piperaquine+placebo (AS-PPQ+PBO)
39 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
40 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
41 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
42 P.Vivax Treatment Trial Completed NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
43 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
44 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
45 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
46 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
47 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2 rasburicase (SR29142)
48 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
49 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 )
50 Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in G6PD Deficient Patients 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 30

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

42
Heart, Testes, Skin, Lung, Spleen, Liver, Breast

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 416)
# Title Authors Year
1
Severe hemolytic anemia due to transient acquired G6PD deficiency after ingestion of sodium chlorite. ( 30231641 )
2019
2
No evidence that G6PD deficiency affects the efficacy or safety of daunorubicin in acute lymphoblastic leukemia induction therapy. ( 30848065 )
2019
3
A positive correlation between sickle cell anemia and g6pd deficiency from population of Chhattisgarh, India. ( 31075411 )
2019
4
Thalassemia trait and G6PD deficiency in Thai blood donors. ( 30922678 )
2019
5
Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil. ( 30673054 )
2019
6
Clinical Spectrum of Primaquine-induced Hemolysis in G6PD Deficiency: A Nine-Year Hospitalization-Based Study from the Brazilian Amazon. ( 30753364 )
2019
7
Is intravenous vitamin C contraindicated in patients with G6PD deficiency? ( 30944032 )
2019
8
Acute Retroviral Syndrome Presenting with Hemolytic Anemia Induced by G6PD Deficiency. ( 30591622 )
2018
9
Rasburicase-induced hemolytic anemia in previously undiagnosed G6PD deficiency. ( 30093385 )
2018
10
G6PD deficiency, primaquine treatment, and risk of haemolysis in malaria-infected patients. ( 30409136 )
2018
11
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar. ( 29548282 )
2018
12
Primaquine ineligibility in anti-relapse therapy of Plasmodium vivax malaria: the problem of G6PD deficiency and cytochrome P-450 2D6 polymorphisms. ( 29357870 )
2018
13
Pneumocystis jirovecii pneumonia in a human immunodeficiency virus-infected patient with G6PD deficiency-successful treatment with anidulafungin. ( 30575940 )
2018
14
Chemotherapy in a Patient With G6PD Deficiency and Advanced Testicular Cancer. ( 30241168 )
2018
15
Deep Hypothermic Circulatory Arrest in a Patient With Severe G6PD Deficiency. ( 29126676 )
2018
16
Severe acute kidney injury owing to rhabdomyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency. ( 29493437 )
2018
17
Primaquine-induced haemolysis in females heterozygous for G6PD deficiency. ( 29499733 )
2018
18
Diagnostic performances of the fluorescent spot test for G6PD deficiency in newborns along the Thailand-Myanmar border: A cohort study. ( 29552643 )
2018
19
Intravenous Thrombolysis for Stroke Patients with G6PD Deficiency. ( 29653805 )
2018
20
Prevalence of G6PD deficiency and associated haematological parameters in children from Botswana. ( 29778768 )
2018
21
New Diagnosis of G6PD Deficiency Presenting as Severe Rhabdomyolysis. ( 29850382 )
2018
22
Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province. ( 29860254 )
2018
23
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China. ( 30077011 )
2018
24
G6PD deficiency and aluminum phosphide poisoning. ( 30294351 )
2018
25
Late-Life Presentation of Unsuspected G6PD Deficiency. ( 30356359 )
2018
26
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ethiopia: absence of common African and Mediterranean allelic variants in a nationwide study. ( 30367627 )
2018
27
Membrane protein carbonylation of Plasmodium falciparum infected erythrocytes under conditions of sickle cell trait and G6PD deficiency. ( 30472238 )
2018
28
G6PD deficiency is not an uncommon cause of pigment nephropathy. ( 30588969 )
2018
29
Prevalence of G6PD deficiency in Children with Hepatitis A. ( 28875002 )
2017
30
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
31
Central Nervous System Symptoms Due to Transient Methemoglobinemia in a Child With G6PD Deficiency. ( 27879542 )
2017
32
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. ( 28195434 )
2017
33
G6PD deficiency and fungal infections in patients with acute myeloid leukemia: less enzyme more fungus. ( 28562136 )
2017
34
Further Molecular Analysis of G6PD Deficiency Variants in Southern Vietnam and a Novel Variant Designated as G6PD Ho Chi Minh (173 A>G; 58 Asp>Gly): Frequency Distributions of Variants Compared with Those in Other Southeast Asian Countries. ( 28824188 )
2017
35
Adverse effects of herbal or dietary supplements in G6PD deficiency: a systematic review. ( 27081765 )
2017
36
Hemolytic crisis following acetaminophen overdose in a patient with G6PD deficiency. ( 27608506 )
2017
37
Rapid diagnostic test for G6PD deficiency in Plasmodium vivax-infected men: a budget impact analysis based in Brazilian Amazon. ( 27770602 )
2017
38
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. ( 27914961 )
2017
39
Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency. ( 28059001 )
2017
40
Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. ( 28067620 )
2017
41
Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions. ( 28103889 )
2017
42
Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka. ( 28152025 )
2017
43
Modelling primaquine-induced haemolysis in G6PD deficiency. ( 28155819 )
2017
44
Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria. ( 28356147 )
2017
45
Prevalence and genetic variants of G6PD deficiency among two Malagasy populations living in Plasmodium vivax-endemic areas. ( 28376871 )
2017
46
G6pd Deficiency Does Not Affect the Cytosolic Glutathione or Thioredoxin Antioxidant Defense in Mouse Cochlea. ( 28473643 )
2017
47
Dexmedetomidine-based intravenous anesthesia of a pediatric patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency: A case report. ( 28538406 )
2017
48
Recombinant human G6PD for quality control and quality assurance of novel point-of-care diagnostics for G6PD deficiency. ( 28552983 )
2017
49
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency. ( 28583873 )
2017
50
G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon. ( 28619120 )
2017

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6 (show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh37 Chromosome X, 153763492: 153763492
2 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh38 Chromosome X, 154535277: 154535277
3 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
4 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh38 Chromosome X, 154536002: 154536002
5 G6PD NM_000402.4(G6PD): c.944G> A (p.Arg315His) single nucleotide variant Benign rs74575103 GRCh37 Chromosome X, 153761801: 153761801
6 G6PD NM_000402.4(G6PD): c.944G> A (p.Arg315His) single nucleotide variant Benign rs74575103 GRCh38 Chromosome X, 154533586: 154533586
7 G6PD NM_001042351.2(G6PD): c.1116G> A (p.Gln372=) single nucleotide variant Benign rs2230036 GRCh37 Chromosome X, 153760953: 153760953
8 G6PD NM_001042351.2(G6PD): c.1116G> A (p.Gln372=) single nucleotide variant Benign rs2230036 GRCh38 Chromosome X, 154532738: 154532738
9 G6PD NM_001042351.2(G6PD): c.1311T= (p.Tyr437=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230037 GRCh37 Chromosome X, 153760654: 153760654
10 G6PD NM_001042351.2(G6PD): c.1311T= (p.Tyr437=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230037 GRCh38 Chromosome X, 154532439: 154532439
11 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Conflicting interpretations of pathogenicity, other rs5030868 GRCh37 Chromosome X, 153762634: 153762634
12 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Conflicting interpretations of pathogenicity, other rs5030868 GRCh38 Chromosome X, 154534419: 154534419
13 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 GRCh37 Chromosome X, 153762771: 153762771
14 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 GRCh38 Chromosome X, 154534556: 154534556
15 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
16 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh38 Chromosome X, 154532269: 154532269
17 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
18 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh38 Chromosome X, 154533122: 154533122
19 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh37 Chromosome X, 153762340: 153762340
20 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh38 Chromosome X, 154534125: 154534125
21 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240
22 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh38 Chromosome X, 154533025: 154533025
23 G6PD G6PD: c.1455-13T> C single nucleotide variant Benign/Likely benign rs2071429 GRCh37 Chromosome X, 153760508: 153760508
24 G6PD G6PD: c.1455-13T> C single nucleotide variant Benign/Likely benign rs2071429 GRCh38 Chromosome X, 154532293: 154532293
25 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh37 Chromosome X, 153760686: 153760687
26 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh38 Chromosome X, 154532471: 154532472
27 G6PD NM_001042351.2(G6PD): c.*535G> T single nucleotide variant Uncertain significance rs1057515820 GRCh37 Chromosome X, 153759680: 153759680
28 G6PD NM_001042351.2(G6PD): c.*535G> T single nucleotide variant Uncertain significance rs1057515820 GRCh38 Chromosome X, 154531465: 154531465
29 G6PD NM_001042351.2(G6PD): c.*365G> A single nucleotide variant Uncertain significance rs1034742794 GRCh37 Chromosome X, 153759850: 153759850
30 G6PD NM_001042351.2(G6PD): c.*365G> A single nucleotide variant Uncertain significance rs1034742794 GRCh38 Chromosome X, 154531635: 154531635
31 G6PD NM_001042351.2(G6PD): c.771-11T> C single nucleotide variant Uncertain significance rs782622284 GRCh38 Chromosome X, 154533680: 154533680
32 G6PD NM_001042351.2(G6PD): c.771-11T> C single nucleotide variant Uncertain significance rs782622284 GRCh37 Chromosome X, 153761895: 153761895
33 G6PD NM_001042351.2(G6PD): c.-111A> G single nucleotide variant Likely benign rs111827785 GRCh38 Chromosome X, 154547570: 154547570
34 G6PD NM_001042351.2(G6PD): c.-111A> G single nucleotide variant Likely benign rs111827785 GRCh37 Chromosome X, 153775785: 153775785
35 G6PD NM_001042351.2(G6PD): c.1164C> T (p.Asn388=) single nucleotide variant Uncertain significance rs782623392 GRCh38 Chromosome X, 154532690: 154532690
36 G6PD NM_001042351.2(G6PD): c.1164C> T (p.Asn388=) single nucleotide variant Uncertain significance rs782623392 GRCh37 Chromosome X, 153760905: 153760905
37 G6PD NM_001042351.2(G6PD): c.864+14C> T single nucleotide variant Uncertain significance rs782416820 GRCh38 Chromosome X, 154533562: 154533562
38 G6PD NM_001042351.2(G6PD): c.864+14C> T single nucleotide variant Uncertain significance rs782416820 GRCh37 Chromosome X, 153761777: 153761777
39 G6PD NM_001042351.2(G6PD): c.582C> G (p.Asp194Glu) single nucleotide variant Uncertain significance rs145247580 GRCh38 Chromosome X, 154534400: 154534400
40 G6PD NM_001042351.2(G6PD): c.582C> G (p.Asp194Glu) single nucleotide variant Uncertain significance rs145247580 GRCh37 Chromosome X, 153762615: 153762615
41 G6PD NM_001042351.2(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 GRCh37 Chromosome X, 153760190: 153760190
42 G6PD NM_001042351.2(G6PD): c.*520G> A single nucleotide variant Uncertain significance rs782764609 GRCh37 Chromosome X, 153759695: 153759695
43 G6PD NM_001042351.2(G6PD): c.*520G> A single nucleotide variant Uncertain significance rs782764609 GRCh38 Chromosome X, 154531480: 154531480
44 G6PD NM_001042351.2(G6PD): c.*357G= single nucleotide variant Likely benign rs1050757 GRCh37 Chromosome X, 153759858: 153759858
45 G6PD NM_001042351.2(G6PD): c.*357G= single nucleotide variant Likely benign rs1050757 GRCh38 Chromosome X, 154531643: 154531643
46 G6PD NM_001042351.2(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 GRCh38 Chromosome X, 154531975: 154531975
47 G6PD NM_001042351.2(G6PD): c.485+13G> A single nucleotide variant Uncertain significance rs781898381 GRCh38 Chromosome X, 154535155: 154535155
48 G6PD NM_001042351.2(G6PD): c.485+13G> A single nucleotide variant Uncertain significance rs781898381 GRCh37 Chromosome X, 153763370: 153763370
49 G6PD NM_001042351.2(G6PD): c.120+7A> C single nucleotide variant Uncertain significance rs369904290 GRCh38 Chromosome X, 154546029: 154546029
50 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:

38
# Name Kegg Source Accession
1 Glutathione metabolism hsa00480
2 Pentose phosphate pathway hsa00030

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 intracellular membrane-bounded organelle GO:0043231 9.62 G6PD H6PD UGT1A1 UGT1A8
2 blood microparticle GO:0072562 9.43 HBB HBG2 HP
3 tertiary granule lumen GO:1904724 9.37 HBB HP
4 endocytic vesicle lumen GO:0071682 9.16 HBB HP
5 hemoglobin complex GO:0005833 8.96 HBB HBG2
6 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBG2 HP

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of catalytic activity GO:0043086 9.57 UGT1A1 UGT1A8
2 glucose metabolic process GO:0006006 9.56 G6PD H6PD
3 response to hydrogen peroxide GO:0042542 9.55 HBB HP
4 positive regulation of cell death GO:0010942 9.54 HBB HP
5 cellular oxidant detoxification GO:0098869 9.54 HBB HBG2 HP
6 acute-phase response GO:0006953 9.52 HP UGT1A1
7 hydrogen peroxide catabolic process GO:0042744 9.51 HBB HBG2
8 oxygen transport GO:0015671 9.49 HBB HBG2
9 retinoic acid metabolic process GO:0042573 9.48 UGT1A1 UGT1A8
10 xenobiotic glucuronidation GO:0052697 9.46 UGT1A1 UGT1A8
11 flavonoid glucuronidation GO:0052696 9.43 UGT1A1 UGT1A8
12 NADP metabolic process GO:0006739 9.4 G6PD H6PD
13 flavone metabolic process GO:0051552 9.32 UGT1A1 UGT1A8
14 pentose-phosphate shunt, oxidative branch GO:0009051 9.26 G6PD PGD
15 negative regulation of steroid metabolic process GO:0045939 9.16 UGT1A1 UGT1A8
16 pentose biosynthetic process GO:0019322 8.96 G6PD PGD
17 pentose-phosphate shunt GO:0006098 8.8 G6PD H6PD PGD

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 9.54 UGT1A1 UGT1A8
2 oxygen binding GO:0019825 9.52 HBB HBG2
3 transferase activity, transferring hexosyl groups GO:0016758 9.51 UGT1A1 UGT1A8
4 peroxidase activity GO:0004601 9.49 HBB HBG2
5 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A1 UGT1A8
7 retinoic acid binding GO:0001972 9.43 UGT1A1 UGT1A8
8 UDP-glycosyltransferase activity GO:0008194 9.4 UGT1A1 UGT1A8
9 oxygen carrier activity GO:0005344 9.37 HBB HBG2
10 organic acid binding GO:0043177 9.32 HBB HBG2
11 haptoglobin binding GO:0031720 9.26 HBB HBG2
12 hemoglobin binding GO:0030492 9.16 HBB HP
13 NADP binding GO:0050661 9.13 G6PD H6PD PGD
14 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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