MCID: GLC009
MIFTS: 48

Glucosephosphate Dehydrogenase Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 41 14
G6pd Deficiency 72 49 24 51 40
Glucose-6-Phosphate Dehydrogenase Deficiency 12 49 24
Glucose 6 Phosphate Dehydrogenase Deficiency 72 24 28
Deficiency of Glucose-6-Phosphate Dehydrogenase 24 69
Hemolytic Anemia Due to G6pd Deficiency 49 13
Glucose 6-Phosphate Dehydrogenase Deficiency 36
Deficiency of G-6pd 12
G6pdd 24

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
MeSH 41 D005955
NCIt 46 C98933
KEGG 36 H01375
UMLS 69 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus : 40 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 heart, lung and testes.

NIH Rare Diseases : 49 Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin (jaundice). G6PD deficiency is inherited in an X-linked recessive manner and symptoms are more common in males (particularly African Americans and those from certain parts of Africa, Asia, and the Mediterranean). It is caused by mutations in the G6PD gene. Treatment may involve medicines to treat infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases. Last updated: 5/8/2017

Genetics Home Reference : 24 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).

Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.2 G6PD HP
2 neonatal jaundice 30.0 G6PD SLCO1B1 UGT1A1
3 methemoglobinemia 29.7 G6PD HBG2 HP
4 hemolytic anemia 29.6 G6PD HBB HP
5 sickle cell anemia 29.2 G6PD HBB HBG2 UGT1A1
6 congenital nonspherocytic hemolytic anemia 11.5
7 malaria 10.3
8 6-phosphogluconate dehydrogenase deficiency 10.3 G6PD PGD
9 blackwater fever 10.2 G6PD HP
10 irinotecan toxicity 10.2 SLCO1B1 UGT1A1
11 kernicterus 10.2 G6PD UGT1A1
12 acquired methemoglobinemia 10.2 G6PD HBG2
13 congenital methemoglobinemia 10.2 G6PD HBG2
14 hemoglobinemia 10.1 HBB HP
15 pigmentation disease 10.1 SLCO1B1 UGT1A1
16 sleeping sickness 10.0 HP PGD
17 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.0 HBB HBG2
18 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.0 HBB HBG2
19 cataract 10.0
20 thalassemia 10.0
21 colorectal cancer 10.0
22 hepatitis 10.0
23 acute pancreatitis 10.0
24 hepatitis e 10.0
25 pancreatitis 10.0
26 cerebrovascular disease 10.0
27 fetal hemoglobin quantitative trait locus 1 9.9 HBB HBG2
28 congenital hemolytic anemia 9.9 G6PD HBB HP
29 plasmodium falciparum malaria 9.9 G6PD HBB HP
30 hemoglobinopathy 9.8 HBB HP UGT1A1
31 hereditary spherocytosis 9.8 G6PD HBB UGT1A1
32 gilbert syndrome 9.8 G6PD HP SLCO1B1 UGT1A1
33 bilirubin metabolic disorder 9.8 G6PD HP SLCO1B1 UGT1A1
34 lymphosarcoma 9.8 G6PD H6PD
35 cholelithiasis 9.8 HBB UGT1A1
36 hemoglobin h disease 9.8 G6PD HBB HBG2
37 congenital disorder of glycosylation, type in 9.7 HP PGM1
38 deficiency anemia 9.5 G6PD HBB HBG2 HP
39 sickle cell disease 9.5 G6PD HBB HBG2 UGT1A1
40 beta-thalassemia 9.5 G6PD HBB HBG2 UGT1A1
41 alpha-thalassemia 9.3 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 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Primaquine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-34-6 4908
2
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 88495-63-0 5464098 6917864
3
Mefloquine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53230-10-7 4046
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
Artemether Approved Phase 4,Phase 2,Phase 3 71963-77-4 68911 119380
8
Lumefantrine Approved Phase 4,Phase 2,Phase 3 82186-77-4 6437380
9
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 22916-47-8 4189
10
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
11
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
12
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
14
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
15 Antioxidants Phase 4
16
Bilirubin Phase 4 635-65-4 5280352
17 Pharmaceutical Solutions Phase 4,Phase 2
18 Protective Agents Phase 4
19 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
20 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1
21 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Liver Extracts Phase 4
24 Artemisinine Phase 4,Phase 2,Phase 3,Phase 1
25 Artemisinins Phase 4,Phase 2,Phase 3,Phase 1
26
Dihydroartemisinin Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
27
Piperaquine Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
28 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
29 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
30 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1
31 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
33 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
35 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Anti-Bacterial Agents Phase 4,Phase 3
37 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
38 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
39 Antifungal Agents Phase 4,Phase 2,Phase 3
40 Artemether-lumefantrine combination Phase 4,Phase 2,Phase 3
41 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
42 Cholagogues and Choleretics Phase 4
43 Gastrointestinal Agents Phase 4
44 N-Methylaspartate Phase 4
45 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
46 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
47 alanine Nutraceutical Phase 4
48 Aspartic Acid Nutraceutical Phase 4
49
Proguanil Approved Phase 3,Phase 1,Phase 2 500-92-5 4923
50
Amodiaquine Approved, Investigational Phase 3,Phase 1,Phase 2 86-42-0 2165

Interventional clinical trials:

(show top 50) (show all 73)

# 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 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 Assessing a Risk Model for G6PD Deficiency Not yet recruiting NCT03337152 Phase 4 primaquine;chloroquine + primaquine
15 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
16 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
17 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4 Supervised primaquine treatment;Unsupervised primaquine treatment
18 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
19 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
20 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
21 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
22 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
23 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
24 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3 primaquine
25 Study of ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria Completed NCT01288820 Phase 3 Dihydroartemisinin/piperaquine + primaquine;Artesunate-amodiaquine + primaquine
26 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
27 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
28 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3 sulfadoxine-pyrimethamine and chlorproguanil-dapsone
29 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3 Paracetamol
30 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Not yet recruiting NCT02802501 Phase 3 Tafenoquine;Matched-Placebo for Tafenoquine;Primaquine;Matched-Placebo for Primaquine;Dihydroartemisinin-piperaquine (DHA-PQP);ACT plus PQ (Rescue medication);PQ (End of study treatment)
31 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
32 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
33 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
34 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
35 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
36 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
37 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
38 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2 rasburicase (SR29142)
39 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
40 DHEA in Synovial Sarcoma Patients Recruiting NCT02683148 Phase 1, Phase 2 DHEA
41 P.Vivax Treatment Trial Recruiting NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
42 Long-Term Safety Study of Tafenoquine Recruiting NCT03320174 Phase 2 Tafenoquine
43 A Pharmacokinetics, Safety and Efficacy Study of Tafenoquine (TQ) in Pediatric Subjects With Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02563496 Phase 2 Tafenoquine;Chloroquine
44 Pharmacokinetic and in Vitro Transmission Blocking Activities Study of Primaquine Compare to Methylene Blue in Healthy Volunteer Both G6PD Normal and G6PD Deficiency Completed NCT01668433 Phase 1 Regimens (Primaquine, Methylene blue)
45 G6PD (Glucose-6-phosphate Dehydrogenase) Study to Evaluate Hemolysis Potential of TFQ (Tafenoquine) Completed NCT01205178 Phase 1 Chloroquine;Primaquine;Tafenoquine
46 Pharmacokinetic Study of Primaquine in Healthy Obese Thai Adult Subjects Completed NCT02789566 Phase 1 Primaquine
47 Primaquine Pharmacokinetics in Lactating Women and Their Infants Completed NCT01780753 Phase 1 Primaquine
48 Study on Newborn Babies With a Yellow Skin Color (Neonatal Jaundice Study) Unknown status NCT02361788
49 Comparing G6PD Tests Using Capillary Blood Versus Venous Blood Completed NCT02069236
50 Evaluation of Different G6PD Testing Platforms Completed NCT02104518

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 28

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

38
Heart, Lung, Testes, Skin, Spleen, Liver, Adipocyte

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 164)
# 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
Prevalence of G6PD deficiency in Children with Hepatitis A. ( 28875002 )
2017
4
Hemolytic Potential of Tafenoquine in Female Volunteers Heterozygous for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PD Mahidol Variant) versus G6PD-Normal Volunteers. ( 28749773 )
2017
5
Central Nervous System Symptoms Due to Transient Methemoglobinemia in a Child With G6PD Deficiency. ( 27879542 )
2017
6
Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency. ( 28059001 )
2017
7
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. ( 27914961 )
2017
8
G6PD Deficiency with Arnold-Chiari Malformation. ( 27981932 )
2016
9
Cost-effectiveness analysis of rapid diagnostic tests for G6PD deficiency in patients with Plasmodium vivax malaria in the Brazilian Amazon. ( 26864333 )
2016
10
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
11
Plasma cell leukemia revealing a G6PD deficiency. ( 28034875 )
2016
12
Molecular identification of Gd A- and Gd B- G6PD deficient variants by ARMS-PCR in a Tunisian population. ( 27029726 )
2016
13
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province]. ( 26829728 )
2016
14
A perfect storm: Tumor lysis syndrome with rasburicase-induced methemoglobinemia in a G6PD deficient adult. ( 27119769 )
2016
15
Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario. ( 26139767 )
2015
16
Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. ( 26823837 )
2015
17
Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. ( 26479991 )
2015
18
Screening for G6PD Deficiency Among Neonates with Neonatal Jaundice Admitted to Tertiary Care Center: A Need in Disguise. ( 26305316 )
2015
19
Origins and implications of neglect of G6PD deficiency and primaquine toxicity in Plasmodium vivax malaria. ( 25943156 )
2015
20
G6PD deficiency in male individuals infected by Plasmodium vivax malaria in the Brazilian Amazon: a cost study. ( 25889063 )
2015
21
First evaluation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in vivax malaria endemic regions in the Republic of Korea. ( 24853873 )
2014
22
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. ( 24460025 )
2014
23
Anesthetic Management of a Child With Severe Dystonia and G6PD Deficiency for Deep Brain Stimulation. ( 25390657 )
2014
24
Prevention of Kernicterus in South Asia: role of neonatal G6PD deficiency and its identification. ( 24763814 )
2014
25
Interesting case of G6PD deficiency anemia with severe hemolysis. ( 24014946 )
2013
26
Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. ( 23719252 )
2013
27
Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia. ( 22552160 )
2013
28
G6PD deficiency in Plasmodium falciparum and Plasmodium vivax malaria-infected Cambodian patients. ( 23714236 )
2013
29
Dapsone Induced Methemoglobinemia and Hemolysis in a G6PD Deficient Girl, Possibly Aggravated by Aggressive Methylene Blue Therapy. ( 24082224 )
2013
30
The role of erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency in the pathogenesis of anemia in patients on hemodialysis. ( 24231476 )
2013
31
Spatial distribution of G6PD deficiency variants across malaria-endemic regions. ( 24228846 )
2013
32
Methemoglobinemia and hemolysis in a patient with G6PD deficiency treated with rasburicase. ( 22573495 )
2013
33
3'-UTR variations and G6PD deficiency. ( 23389243 )
2013
34
Glucose-6-phosphate dehydrogenase (G6PD)-deficient epithelial cells are less tolerant to infection by Staphylococcus aureus. ( 24223971 )
2013
35
Neonatal death suspected to be from sepsis was found to be kernicterus with G6PD deficiency. ( 24218468 )
2013
36
Association between glucose 6-phosphate dehydrogenase (G6PD) deficiency and fatal outcome of hepatitis E infection in middle-aged men. ( 22337191 )
2012
37
Kawasaki disease with G6PD deficiency - Report of one case and literature review. ( 22727889 )
2012
38
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
39
G6PD deficiency and stroke in the CSSCD. ( 21328436 )
2011
40
Prevalence and molecular study of G6PD deficiency in Malaysian Orang Asli. ( 21507164 )
2011
41
Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells. ( 21246053 )
2011
42
Hemolysis and methemoglobinemia due to hepatitis E virus infection in patient with G6PD deficiency. ( 21302113 )
2011
43
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
44
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
45
Synchrony of G6PD activity and RBC fragility under oxidative stress exerted at normal and G6PD deficiency. ( 19941843 )
2010
46
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. ( 20051781 )
2010
47
Two new variants of G6PD deficiencies in Singapore. ( 21446359 )
2010
48
Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. ( 19546473 )
2009
49
Neonatal screening program for G6PD deficiency in India: need and feasibility. ( 20061582 )
2009
50
The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran. ( 19219640 )
2009

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
2 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 GRCh37 Chromosome X, 153762771: 153762771
3 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
4 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
5 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 GRCh37 Chromosome X, 153762340: 153762340
6 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240

Expression for Glucosephosphate Dehydrogenase Deficiency

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

Pathways for Glucosephosphate Dehydrogenase Deficiency

Pathways related to Glucosephosphate Dehydrogenase Deficiency according to KEGG:

36
# 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 11.94 G6PD HBB PGD UGT1A1
3
Show member pathways
11.82 G6PD H6PD PGD
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
10.74 G6PD H6PD PGD PGM1
9 9.73 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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