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MCID: GLC009
MIFTS: 51

Glucosephosphate Dehydrogenase Deficiency

Categories: Blood diseases, Immune diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

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MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

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

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:2862
MeSH 44 D005955
NCIt 50 C98933
SNOMED-CT 68 62403005
KEGG 37 H01375
ICD10 33 D55-D59
UMLS 73 C2939465
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Summaries for Glucosephosphate Dehydrogenase Deficiency

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MedlinePlus : 43 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include Paleness Jaundice Dark urine Fatigue Shortness of breath Enlarged spleen Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine

MalaCards based summary : Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to 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 Permethrin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung 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 : 25 Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.

NIH Rare Diseases : 53 Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin (jaundice). G6PD deficiency is inherited in an X-linked recessive manner and symptoms are more common in males (particularly African Americans and those from certain parts of Africa, Asia, and the Mediterranean). It is caused by mutations in the G6PD gene. Treatment may involve medicines to treat infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.

Wikipedia : 76 Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is an inborn error of metabolism that predisposes... more...

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Related Diseases for Glucosephosphate Dehydrogenase Deficiency

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

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 32.6 G6PD PGD
2 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.2 G6PD HP
3 neonatal jaundice 31.1 G6PD SLCO1B1 UGT1A1
4 kernicterus 30.8 G6PD UGT1A1
5 bilirubin metabolic disorder 30.6 G6PD HP SLCO1B1 UGT1A1
6 hemolytic anemia 30.5 G6PD HBB HBG2 HP
7 gilbert syndrome 30.5 G6PD SLCO1B1 UGT1A1
8 sickle cell disease 30.5 G6PD HBB HBG2
9 methemoglobinemia 30.4 G6PD HBB HBG2 HP
10 hemoglobinopathy 30.1 HBB HP UGT1A1
11 blackwater fever 30.1 G6PD HP
12 congenital hemolytic anemia 30.0 G6PD HBB HP
13 congenital methemoglobinemia 30.0 G6PD HBG2
14 plasmodium falciparum malaria 30.0 G6PD HBB HP
15 hereditary spherocytosis 30.0 G6PD HBB UGT1A1
16 sickle cell anemia 30.0 G6PD HBB HBG2 UGT1A1
17 beta-thalassemia 30.0 G6PD HBB HBG2 UGT1A1
18 cholelithiasis 29.8 HBB UGT1A1
19 deficiency anemia 29.8 G6PD HBB HBG2 HP
20 alpha-thalassemia 29.3 G6PD HBB HBG2 HP UGT1A1
21 congenital nonspherocytic hemolytic anemia 11.7
22 leigh syndrome, french canadian type 11.1
23 malaria 10.6
24 hepatitis 10.5
25 thalassemia 10.5
26 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
27 hepatitis a 10.3
28 viral hepatitis 10.3
29 spotted fever 10.2
30 priapism 10.2
31 pyruvate kinase deficiency of red cells 10.2
32 diabetes mellitus, ketosis-prone 10.2
33 cataract 10.2
34 diabetes mellitus 10.2
35 retinal vein occlusion 10.2
36 boutonneuse fever 10.2
37 irinotecan toxicity 10.1 SLCO1B1 UGT1A1
38 acquired methemoglobinemia 10.1 G6PD HBG2
39 anemia, autoimmune hemolytic 10.1
40 galactosemia 10.1
41 leukemia 10.1
42 thrombosis 10.1
43 hepatitis c 10.1
44 central retinal vein occlusion 10.1
45 hairy cell leukemia 10.1
46 pulmonary tuberculosis 10.1
47 hepatitis e 10.1
48 pneumonia 10.1
49 sideroblastic anemia 10.1
50 toxoplasmosis 10.1

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



Diseases related to Glucosephosphate Dehydrogenase Deficiency
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Symptoms & Phenotypes for Glucosephosphate Dehydrogenase Deficiency

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Drugs & Therapeutics for Glucosephosphate Dehydrogenase Deficiency

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

(show top 50) (show all 115)
# 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
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
3
Mefloquine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53230-10-7 4046
4
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 88495-63-0 5464098 6917864
5
chloroquine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-05-7 2719
6
leucovorin Approved Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 6006 143
7
Dapsone Approved, Investigational Phase 4,Phase 3 80-08-0 2955
8
Artemether Approved Phase 4,Phase 2,Phase 3,Not Applicable 71963-77-4 119380 68911
9
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 22916-47-8 4189
10
Lumefantrine Approved Phase 4,Phase 2,Phase 3,Not Applicable 82186-77-4 6437380
11
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
12
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
13
Amodiaquine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 86-42-0 2165
14
Proguanil Approved Phase 4,Phase 3,Phase 1,Phase 2 500-92-5 4923
15
Atovaquone Approved Phase 4 95233-18-4 74989
16
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 59-30-3 6037
18
Dihydroartemisinin Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
19
Piperaquine Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
20
Pyronaridine Investigational Phase 4 74847-35-1 5485198
21 Antioxidants Phase 4,Not Applicable
22
Bilirubin Phase 4 635-65-4 5280352
23 Pharmaceutical Solutions Phase 4,Phase 2
24 Protective Agents Phase 4,Not Applicable
25 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Liver Extracts Phase 4
29 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
30 Artemisinine Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Artemisinins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
33 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Vitamin B9 Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
41 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
42 Anti-Bacterial Agents Phase 4,Phase 3
43 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
44 Folate Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
45 Artemether-lumefantrine combination Phase 4,Phase 2,Phase 3,Not Applicable
46 Antifungal Agents Phase 4,Phase 2,Phase 3,Not Applicable
47 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
48 Anti-Infective Agents, Urinary Phase 4,Phase 3,Phase 1,Phase 2
49 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
50 Atovaquone, proguanil drug combination Phase 4

Interventional clinical trials:

(show top 50) (show all 82)
# 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 Assessing a Risk Model for G6PD Deficiency Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
19 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
20 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4 Supervised primaquine treatment;Unsupervised primaquine treatment
21 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
22 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
23 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
24 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
25 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
26 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3 primaquine
27 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
28 Comparison Between 7 and 14 Day Primaquine Combined With Dihydroartemisinin-piperaquine or 3 Day Chloroquine Radical Cure of P. Vivax (BPD) Completed NCT01640574 Phase 3 Dihydroartemisinin-Piperaquine;Dihydroartemisinin-Piperaquine;Chloroquine;Chloroquine
29 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
30 A Study by the Tracking Resistance to Artemisinin Collaboration (TRAC) Completed NCT02453308 Phase 2, Phase 3 ACT;TACT
31 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3 sulfadoxine-pyrimethamine and chlorproguanil-dapsone
32 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02802501 Phase 3 Tafenoquine;Matched-Placebo for Tafenoquine;Primaquine;Matched-Placebo for Primaquine;Dihydroartemisinin-piperaquine (DHA-PQP);ACT plus PQ (Rescue medication);PQ (End of study treatment)
33 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3 Paracetamol
34 Study to Compare the Triple ACT AL+AQ With the ACT AL in Cambodia and Vietnam Recruiting NCT03355664 Phase 3 ACT;TACT
35 Comparison of Arterolane-piperaquine Versus Arterolane-piperaquine+Mefloquine Versus Artemether-lumefantrine in Kenyan Children Recruiting NCT03452475 Phase 3 Arterolane-piperaquine;Arterolane-piperaquine+mefloquine;Artemether-lumefantrine
36 Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The Gambia Terminated NCT02654730 Phase 2, Phase 3 Dihydroartemisinin-piperaquine (DHAP) administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD deficient;Dihydroartemisinin-piperaquine (DHAP) + 0.25 mg/kg primaquine administered to G6PD normal;Dihydroartemisinin-piperaquine (DHAP) + 0.4 mg/kg primaquine administered to G6PD normal
37 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
38 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
39 P.Vivax Treatment Trial Completed NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
40 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
41 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
42 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
43 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
44 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2 rasburicase (SR29142)
45 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
46 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 )
47 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
48 DHEA in Synovial Sarcoma Patients Recruiting NCT02683148 Phase 1, Phase 2 DHEA
49 Long-Term Safety Study of Tafenoquine Recruiting NCT03320174 Phase 2 Tafenoquine
50 PD-1 Antibody Combined With COX Inhibitor in MSI-H/dMMR or High TMB Colorectal Cancer Recruiting NCT03638297 Phase 2 PD-1 antibody + cox inhibitor

Search NIH Clinical Center for Glucosephosphate Dehydrogenase Deficiency

Cochrane evidence based reviews: glucosephosphate dehydrogenase deficiency

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Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

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Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Glucose 6 Phosphate Dehydrogenase Deficiency 29
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Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

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MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

41
Heart, Lung, Skin, Testes, Spleen, Liver, Myeloid
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Publications for Glucosephosphate Dehydrogenase Deficiency

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Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 389)
# 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
Rasburicase-induced hemolytic anemia in previously undiagnosed G6PD deficiency. ( 30093385 )
2018
3
Severe hemolytic anemia due to transient acquired G6PD deficiency after ingestion of sodium chlorite. ( 30231641 )
2018
4
G6PD deficiency, primaquine treatment, and risk of haemolysis in malaria-infected patients. ( 30409136 )
2018
5
Chemotherapy in a Patient With G6PD Deficiency and Advanced Testicular Cancer. ( 30241168 )
2018
6
New Diagnosis of G6PD Deficiency Presenting as Severe Rhabdomyolysis. ( 29850382 )
2018
7
Severe acute kidney injury owing to rhabdomyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency. ( 29493437 )
2018
8
Deep Hypothermic Circulatory Arrest in a Patient With Severe G6PD Deficiency. ( 29126676 )
2018
9
Primaquine-induced haemolysis in females heterozygous for G6PD deficiency. ( 29499733 )
2018
10
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar. ( 29548282 )
2018
11
Diagnostic performances of the fluorescent spot test for G6PD deficiency in newborns along the Thailand-Myanmar border: A cohort study. ( 29552643 )
2018
12
Intravenous Thrombolysis for Stroke Patients with G6PD Deficiency. ( 29653805 )
2018
13
Prevalence of G6PD deficiency and associated haematological parameters in children from Botswana. ( 29778768 )
2018
14
Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province. ( 29860254 )
2018
15
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China. ( 30077011 )
2018
16
G6PD deficiency and aluminum phosphide poisoning. ( 30294351 )
2018
17
Late-Life Presentation of Unsuspected G6PD Deficiency. ( 30356359 )
2018
18
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ethiopia: absence of common African and Mediterranean allelic variants in a nationwide study. ( 30367627 )
2018
19
Membrane protein carbonylation of Plasmodium falciparum infected erythrocytes under conditions of sickle cell trait and G6PD deficiency. ( 30472238 )
2018
20
Refractory Causes of Kernicterus in Developed Countries: Can We Eradicate G6PD Deficiency Triggered and Low-Bilirubin Kernicterus? ( 28721814 )
2017
21
Hemolytic Potential of Tafenoquine in Female Volunteers Heterozygous for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PD Mahidol Variant) versus G6PD-Normal Volunteers. ( 28749773 )
2017
22
Possible association of 3' UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency. ( 28059001 )
2017
23
Prevalence of G6PD deficiency in Children with Hepatitis A. ( 28875002 )
2017
24
Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia. ( 28067620 )
2017
25
Central Nervous System Symptoms Due to Transient Methemoglobinemia in a Child With G6PD Deficiency. ( 27879542 )
2017
26
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. ( 28195434 )
2017
27
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
28
Adverse effects of herbal or dietary supplements in G6PD deficiency: a systematic review. ( 27081765 )
2017
29
Hemolytic crisis following acetaminophen overdose in a patient with G6PD deficiency. ( 27608506 )
2017
30
Rapid diagnostic test for G6PD deficiency in Plasmodium vivax-infected men: a budget impact analysis based in Brazilian Amazon. ( 27770602 )
2017
31
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. ( 27914961 )
2017
32
Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions. ( 28103889 )
2017
33
Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka. ( 28152025 )
2017
34
Modelling primaquine-induced haemolysis in G6PD deficiency. ( 28155819 )
2017
35
Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria. ( 28356147 )
2017
36
Prevalence and genetic variants of G6PD deficiency among two Malagasy populations living in Plasmodium vivax-endemic areas. ( 28376871 )
2017
37
G6pd Deficiency Does Not Affect the Cytosolic Glutathione or Thioredoxin Antioxidant Defense in Mouse Cochlea. ( 28473643 )
2017
38
Dexmedetomidine-based intravenous anesthesia of a pediatric patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency: A case report. ( 28538406 )
2017
39
Recombinant human G6PD for quality control and quality assurance of novel point-of-care diagnostics for G6PD deficiency. ( 28552983 )
2017
40
G6PD deficiency and fungal infections in patients with acute myeloid leukemia: less enzyme more fungus. ( 28562136 )
2017
41
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency. ( 28583873 )
2017
42
G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon. ( 28619120 )
2017
43
Safety of primaquine given to people with G6PD deficiency: systematic review of prospective studies. ( 28830424 )
2017
44
The G6PD flow-cytometric assay is a reliable tool for diagnosis of G6PD deficiency in women and anaemic subjects. ( 28852037 )
2017
45
Low serum ferritin and G6PD deficiency as potential predictors of anaemia in pregnant women visiting Prime Care Hospital Enugu Nigeria. ( 29221497 )
2017
46
G6PD Deficiency with Arnold-Chiari Malformation. ( 27981932 )
2016
47
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province]. ( 26829728 )
2016
48
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
49
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
50
Plasma cell leukemia revealing a G6PD deficiency. ( 28034875 )
2016
Sources

Variations for Glucosephosphate Dehydrogenase Deficiency

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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_000402.4(G6PD): c.1206G> A (p.Gln402=) single nucleotide variant Benign rs2230036 GRCh37 Chromosome X, 153760953: 153760953
8 G6PD NM_000402.4(G6PD): c.1206G> A (p.Gln402=) 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 Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
12 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic 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.*357G= single nucleotide variant Likely benign rs1050757 GRCh37 Chromosome X, 153759858: 153759858
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 GRCh38 Chromosome X, 154531643: 154531643
45 G6PD NM_001042351.2(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 GRCh37 Chromosome X, 153760190: 153760190
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
Sources

Expression for Glucosephosphate Dehydrogenase Deficiency

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

Pathways for Glucosephosphate Dehydrogenase Deficiency

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Pathways related to Glucosephosphate Dehydrogenase Deficiency according to KEGG:

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

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

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
11.95 G6PD HBB PGD UGT1A1
2
Carbon metabolism 37
Show member pathways
 11.82 G6PD H6PD PGD
3
NRF2 pathway 1
11.59 G6PD PGD UGT1A1
4
Statin Pathway - Generalized, Pharmacokinetics 61
Show member pathways
 11.39 SLCO1B1 UGT1A1
5
Imatinib Pathway, Pharmacokinetics/Pharmacodynamics 61
Show member pathways
 11.32 SLCO1B1 UGT1A1
6
Irinotecan Pathway 1
Show member pathways
 11.14 SLCO1B1 UGT1A1
7
Codeine and Morphine Pathway, Pharmacokinetics 61
Show member pathways
 10.95 SLCO1B1 UGT1A1
8
Pentose phosphate pathway 1 37 1
Show member pathways
 10.61 G6PD H6PD PGD
9
Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics 61
9.73 G6PD PGD
Sources

GO Terms for Glucosephosphate Dehydrogenase Deficiency

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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 9.43 HBB HBG2 HP
2 tertiary granule lumen GO:1904724 9.32 HBB HP
3 endocytic vesicle lumen GO:0071682 9.16 HBB HP
4 hemoglobin complex GO:0005833 8.96 HBB HBG2
5 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBG2 HP

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein heterooligomerization GO:0051291 9.51 HBB HBG2
2 glucose metabolic process GO:0006006 9.49 G6PD H6PD
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 cellular oxidant detoxification GO:0098869 9.43 HBB HBG2 HP
7 hydrogen peroxide catabolic process GO:0042744 9.4 HBB HBG2
8 oxygen transport GO:0015671 9.37 HBB HBG2
9 NADP metabolic process GO:0006739 9.32 G6PD H6PD
10 pentose-phosphate shunt, oxidative branch GO:0009051 9.16 G6PD PGD
11 pentose biosynthetic process GO:0019322 8.96 G6PD PGD
12 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 9.43 HBB HBG2
2 peroxidase activity GO:0004601 9.4 HBB HBG2
3 oxygen carrier activity GO:0005344 9.37 HBB HBG2
4 organic acid binding GO:0043177 9.32 HBB HBG2
5 haptoglobin binding GO:0031720 9.26 HBB HBG2
6 hemoglobin binding GO:0030492 9.16 HBB HP
7 NADP binding GO:0050661 9.13 G6PD H6PD PGD
8 glucose-6-phosphate dehydrogenase activity GO:0004345 8.62 G6PD H6PD
Sources

Sources for Glucosephosphate Dehydrogenase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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