MCID: GLC009
MIFTS: 52

Glucosephosphate Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 12 44 15 17
G6pd Deficiency 75 53 25 55 43
Glucose 6 Phosphate Dehydrogenase Deficiency 75 25 29 6
Glucose-6-Phosphate Dehydrogenase Deficiency 12 53 25
Deficiency of Glucose-6-Phosphate Dehydrogenase 25 72
Glucose 6-Phosphate Dehydrogenase Deficiency 37
Anemia, Hemolytic, Due to G6pd Deficiency 40
Hemolytic Anemia Due to G6pd Deficiency 53
Deficiency of G-6pd 12
G6pdd 25

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
KEGG 37 H01375
MeSH 44 D005955
NCIt 50 C98933
SNOMED-CT 68 62403005
UMLS 72 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

Genetics Home Reference : 25 Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis. The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition.

MalaCards based summary : Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to anemia, nonspherocytic hemolytic, due to g6pd deficiency and 6-phosphogluconate dehydrogenase deficiency. An important gene associated with Glucosephosphate Dehydrogenase Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Glutathione metabolism and Pentose phosphate pathway. The drugs leucovorin and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and skin.

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

NIH Rare Diseases : 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.

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

KEGG : 37
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans.

Wikipedia : 75 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 346)
# Related Disease Score Top Affiliating Genes
1 anemia, nonspherocytic hemolytic, due to g6pd deficiency 33.3 HP G6PD
2 6-phosphogluconate dehydrogenase deficiency 32.9 PGD G6PD
3 kernicterus 31.7 UGT1A1 G6PD
4 neonatal jaundice 31.5 UGT1A1 SLCO1B1 G6PD
5 sickle cell disease 30.9 HBG2 HBB G6PD
6 blackwater fever 30.8 HP G6PD
7 hemoglobinopathy 30.7 UGT1A1 HP HBB
8 deficiency anemia 30.7 HP HBG2 HBB G6PD
9 plasmodium falciparum malaria 30.6 HP HBB G6PD
10 congenital methemoglobinemia 30.5 HBG2 G6PD
11 congenital hemolytic anemia 30.4 HP HBB G6PD
12 acquired methemoglobinemia 30.4 HBG2 G6PD
13 bilirubin, serum level of, quantitative trait locus 1 30.4 UGT1A8 UGT1A1
14 sickle cell anemia 30.3 UGT1A1 HBG2 HBB G6PD
15 methemoglobinemia 30.3 HP HBG2 HBB G6PD
16 crigler-najjar syndrome, type ii 30.3 UGT1A8 UGT1A1
17 gilbert syndrome 30.2 UGT1A8 UGT1A1 SLCO1B1 G6PD
18 hereditary spherocytosis 30.2 UGT1A1 HBB G6PD
19 beta-thalassemia 30.1 UGT1A1 HBG2 HBB G6PD
20 bilirubin metabolic disorder 30.1 UGT1A1 SLCO1B1 HP G6PD
21 hemolytic anemia 30.0 HP HBG2 HBB G6PD
22 hemoglobin h disease 29.8 HBG2 HBB G6PD
23 cholelithiasis 29.6 UGT1A1 HBB
24 alpha-thalassemia 29.3 UGT1A1 HP HBG2 HBB G6PD
25 leigh syndrome, french canadian type 11.3
26 thalassemia 10.7
27 viral hepatitis 10.6
28 kidney disease 10.5
29 acute kidney failure 10.5
30 rare constitutional hemolytic anemia due to an enzyme disorder 10.5
31 typhoid fever 10.5
32 cataract 10.5
33 hepatitis a 10.4
34 hemoglobinuria 10.4
35 diabetes mellitus, ketosis-prone 10.4
36 bacterial infectious disease 10.3
37 hemoglobin e disease 10.3
38 hemoglobinemia 10.3 HP HBB
39 leprosy 3 10.3
40 yemenite deaf-blind hypopigmentation syndrome 10.3
41 hepatic coma 10.3
42 hansen's disease 10.3
43 encephalopathy 10.3
44 irinotecan toxicity 10.3 UGT1A1 SLCO1B1
45 elliptocytosis 2 10.2
46 elliptocytosis 3 10.2
47 spotted fever 10.2
48 plasmodium vivax malaria 10.2
49 hepatic encephalopathy 10.2
50 thrombocytopenia 10.2

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 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Nitric Oxide Approved Phase 4 10102-43-9 145068
3
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5
Racepinephrine Approved Phase 4 329-65-7 838
6
Prilocaine Approved Phase 4 721-50-6 4906
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Dapsone Approved, Investigational Phase 4 80-08-0 2955
9
Lumefantrine Approved Phase 4 82186-77-4 6437380
10
Artemether Approved Phase 4 71963-77-4 68911 119380
11
Primaquine Approved Phase 4 90-34-6 4908
12
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
14
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
15
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
16
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
17 Folic Acid Antagonists Phase 4
18 Folate Phase 4
19 Vitamin B9 Phase 4
20 Vitamin B Complex Phase 4
21 Antioxidants Phase 4
22 Protective Agents Phase 4
23 Pharmaceutical Solutions Phase 4
24 Natriuretic Agents Phase 4
25 diuretics Phase 4
26 Epinephryl borate Phase 4
27 Micronutrients Phase 4
28 Trace Elements Phase 4
29 Vitamins Phase 4
30 Nutrients Phase 4
31 Artemisinins Phase 4
32 Artemisinine Phase 4
33 Anti-Bacterial Agents Phase 4
34 Artemether, Lumefantrine Drug Combination Phase 4
35 Analgesics Phase 4
36 Anti-Inflammatory Agents Phase 4
37 Chloroquine diphosphate Phase 4 50-63-5
38 Antimalarials Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Peripheral Nervous System Agents Phase 4
41 Anti-Infective Agents Phase 4
42 Anti-Inflammatory Agents, Non-Steroidal Phase 4
43 Antiparasitic Agents Phase 4
44 Anthelmintics Phase 4
45 Antiprotozoal Agents Phase 4
46 Antirheumatic Agents Phase 4
47
tafenoquine Approved, Investigational Phase 3 106635-80-7 115358
48
Amodiaquine Approved, Investigational Phase 3 86-42-0 2165
49
Artesunate Approved, Investigational Phase 3 88495-63-0 5464098 6917864
50 Orange Approved Phase 3

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
2 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
3 Safety, Tolerability and Pilot Efficacy of Short Course, High Dose Primaquine Treatment for Liver Stages of Plasmodium Vivax Infection Unknown status NCT02364583 Phase 4 Primaquine
4 Evaluating the Efficacy of Chloroquine for the Treatment of Plasmodium Vivax Infections in Central Vietnam Unknown status NCT02610686 Phase 4 Chloroquine
5 Evaluation of Ureteral Patency in the Post-indigo Carmine Era Completed NCT02677623 Phase 4 Pyridium;Sodium Fluorescein;Mannitol
6 PEG-Electrolyte Solution (FORTRANS®) With Mentholyptus Drops (Halls®) Versus Reduced Volume Ascorbic Acid Supplemented PEG-Electrolyte (MoviPrep®) in Colonoscopy Preparation: A Randomised Controlled Study Completed NCT01788709 Phase 4
7 Impact of Mass Screening and Selective Treatment With Dihydroartemisinin-piperaquine Plus Primaquine on Malaria Transmission in High Endemic Area, Belu Regency, Nusa Tenggara Timur Province, Indonesia: a Randomized Cluster Trial Completed NCT01878357 Phase 4 dihydroartemisinin-piperaquine;primaquine
8 ACZ ACN 01. A Phase 4, Double-Blind, Multicenter, Randomized, Vehicle-Controlled, Cross-Over Study to Further Evaluate the Risk of Hematological Adverse Events in G6PD-Deficient Subjects With Acne Vulgaris Treated With ACZONE™ (Dapsone) Gel, 5%. Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
9 The Tolerability and Safety of Low Dose Primaquine for Transmission Blocking in Symptomatic Falciparum Infected Cambodians Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
10 A Study to Assess Safety of Current Standard Malaria Treatment and an Assessment of Glucose-6-dehydrogenase Status in South-east Bangladesh Completed NCT02389374 Phase 4 chloroquine;Artemether-lumefantrine combination;Primaquine;Primaquine
11 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Completed NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
12 G6PD Assessment Before Primaquine for Radical Treatment of Vivax Malaria Recruiting NCT02876549 Phase 4 Chloroquine;Primaquine 0.25 mg/kg/day;Primaquine 0.75 mg/kg weekly
13 Developing a Methodology to Assess 8-aminoquinoline Associated Haemolytic Risk in Females Heterozygous for G6PD in Endemic Populations Suspended NCT03337152 Phase 4 primaquine;chloroquine + primaquine
14 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
15 Primaquine's Gametocytocidal Efficacy in Malaria Asymptomatic Carriers Treated With Dihydroartemisinin-piperaquine in The Gambia Completed NCT01838902 Phase 3 DHA-PPQ;PQ (0.75);PQ (0.4);PQ (0.2)
16 Evaluation of the Safety of Primaquine in Combination With Artemether-lumefantrine in Glucose-6-phosphate Dehydrogynase Deficient Males With an Asymptomatic Malaria Infection in Burkina Faso (SAFEPRIM) Completed NCT02174900 Phase 2, Phase 3 Artemether-Lumefantrine (AL) + 0.25 mg/kg primaquine;Artemether-Lumefantrine (AL) combination;Artemether-Lumefantrine (AL) + 0.4 mg/kg primaquine
17 Evaluation of the Efficacy and Safety of Primaquine for Clearance of Gametocytes in Uncomplicated Falciparum Malaria in Uganda Completed NCT01365598 Phase 3 Primaquine
18 A Double Blind Randomized Controlled Trial of Dihydroartemisinin-piperaquine Alone and in Combination With Single Dose Primaquine to Reduce Post-treatment Malaria Transmission. Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
19 A Randomized, Double-Blind, Double Dummy, Comparative, Multicenter Study to Assess the Incidence of Hemolysis, Safety, and Efficacy of Tafenoquine (SB-252263, WR238605) Versus Primaquine in the Treatment of Subjects With Plasmodium Vivax Malaria Completed NCT02216123 Phase 3 Tafenoquine;Tafenoquine Placebo;Chloroquine;Primaquine;Primaquine Placebo
20 Randomized Trial of the Safety and Effectiveness of Lapdap and Coartemether for Uncomplicated Malaria in Operational Settings Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
21 Artesunate-mefloquine vs Chloroquine in Patients With Acute Uncomplicated P. Knowlesi and P. Vivax Malaria: a Randomized Open Label Trial in Sabah, Malaysia Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
22 Comparison of the Efficacy and Safety of Two ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria in North Sumatera, Indonesia: 1 Year Followup Completed NCT01288820 Phase 3 Dihydroartemisinin/piperaquine + primaquine;Artesunate-amodiaquine + primaquine
23 An Open Label Randomized Comparative Study to Assess the Efficacy and Tolerability of Eurartesim® Versus Chloroquine and Nonrelapse Therapy With Primaquine for Uncomplicated Plasmodium Vivax Monoinfection Malaria Recruiting NCT03208907 Phase 3 CQ coadministered with PQ;DHA-PQP coadministered with PQ;CQ and PQ starting on Day 42;DHA-PQP and PQ starting on Day 42
24 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
25 A Phase 2 Multicenter, Single Dose, Randomized, Double Blind, Placebo Controlled, Parallel Group Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates Completed NCT01887327 Phase 2 stannsoporfin;Placebo
26 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
27 A Randomised, Single-blinded Controlled Treatment Trial of Subclinical Vivax Infections With Primaquine in Nong Province, Laos Completed NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
28 Malaria Infection Diagnosed by PCR as a Means of Evaluating Pre-erythrocytic Candidate Malaria Vaccines Completed NCT00121823 Phase 1, Phase 2
29 A Pilot Study To Determine The Toxicity Of The Addition Of Rituximab To The Induction And Consolidation Phases And The Addition Of Rasburicase To The Reduction Phase In Children With Newly Diagnosed Advanced B-Cell Leukemia/Lymphoma Treated With LMB/FAB Therapy Completed NCT00057811 Phase 2 doxorubicin hydrochloride;cyclophosphamide;methotrexate;rasburicase;leucovorin calcium;prednisone;methylprednisolone;cytarabine;etoposide;vincristine sulfate;hydrocortisone sodium succinate
30 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
31 PD-1 Antibody Combined With COX Inhibitor in MSI-H/dMMR or High TMB Colorectal Cancer: a Single Arm Phase II Study Recruiting NCT03638297 Phase 2 PD-1 antibody + cox inhibitor
32 Safety and Efficacy of Different Regimens of Primaquine on Vivax Malaria Treatment in Glucose 6-phosphate Dehydrogenase Deficient Patients Recruiting NCT03529396 Phase 2 Chloroquine;Primaquine;Primaquine;Chloroquine;Primaquine
33 An Open Label, Non-comparative, Multicenter Study to Assess the Pharmacokinetics, Safety and Efficacy of Tafenoquine (SB-252263, WR238605) in the Treatment of Pediatric Subjects With Plasmodium Vivax Malaria Recruiting NCT02563496 Phase 2 Tafenoquine;Chloroquine
34 A Phase I Study to Investigate the Hemolytic Potential of Tafenoquine in Healthy Subjects With Glucose-6-phosphate Dehydrogenase Deficiency and the Safety and Tolerability of Tafenoquine in Acute Plasmodium Vivax Malaria Patients With Glucose-6-phosphate Dehydrogenase Deficiency Completed NCT01205178 Phase 1 Chloroquine;Primaquine;Tafenoquine
35 Phase 1, Open-Label Study to Evaluate Potential Pharmacokinetic Interaction of Orally Administered Primaquine and Chloroquine in Healthy Thai Adult Subjects Completed NCT01218932 Phase 1 A;B
36 Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen Completed NCT03934450 Phase 1 RPQ;SPQ;Primaquine Phosphate;Placebo
37 Open Label Randomized Controlled Trial Pharmacokinetic and Vitro Transmission Blocking Activities Study of Primaquine Compare to Methylene Blue in Healthy Volunteer Both G6PD Normal and G6PD Deficiency Completed NCT01668433 Phase 1 Regimens (Primaquine, Methylene blue)
38 Open-Label Study to Evaluate Safety, Tolerability, Potential Pharmacokinetic Interactions and Mosquito-Lethal Effects of Orally Administered Ivermectin, Primaquine, Dihydroartemisinin-Piperaquine, and Albendazole in Healthy Adult Subjects Completed NCT02568098 Phase 1 IVM, IVM and PQ, IVM and DHA-PQP, IVM and DHA-PQP and PQ;PQ and DHA-PQP and PQ;DHA-PQP
39 Oxidative Stress Contributes to Hemolysis in Patients With Hereditary Spherocytosis (HS) and Can be Ameliorated by Fermented Papaya Preparation (FPP) Unknown status NCT01201174
40 Correlation of G6PD Activity Across Different Sample Sources, and Different G6PD Testing Platforms Completed NCT02069236
41 Evaluation of a Point-of-care G6PD Diagnostic Test Completed NCT02104518
42 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
43 A New Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine
44 Improving the Radical Cure of Vivax Malaria: A Multicentre Randomised Comparison of Short and Long Course Primaquine Regimens Completed NCT01814683 Primaquine;Primaquine;Placebo
45 Effects of Alpha Lipoic Acid Supplementation in G6PD Deficient Individuals After Acute Exercise Completed NCT02937363
46 Studies of P. Vivax and P. Falciparum Malaria in Cambodia Completed NCT00663546
47 Causes and Impact of Anemia on Pregnancy Outcome on the Thai-Myanmar Border: Retrospective Analysis Completed NCT03174652
48 Multidisciplinary Studies of Malaria Protection by Hemoglobinopathies and G6PD Deficiency in Mali Completed NCT00342043
49 Studies of Innate and Acquired Resistance to P. Falciparum Malaria in Mali Completed NCT00669084
50 Accuracy of Transcutaneous Bilirubin Determinations in Neonates: The Effect of Gestational Age, Time and Site of Measurement Completed NCT01422655

Search NIH Clinical Center for Glucosephosphate Dehydrogenase Deficiency

Cochrane evidence based reviews: glucosephosphate dehydrogenase deficiency

Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

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

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

MalaCards organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

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

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 1813)
# Title Authors PMID Year
1
Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. 9 38 71
2253938 1990
2
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. 38 71
1303173 1992
3
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. 38 71
2572288 1989
4
Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum. 38 71
2912886 1989
5
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. 38 71
3393536 1988
6
Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism. 38 71
7106752 1982
7
A positive correlation between sickle cell anemia and g6pd deficiency from population of Chhattisgarh, India. 38 17
31075411 2019
8
The effect of the coinheritance of Glucose-6-phosphate dehydrogenase deficiency on the severity of sickle cell disease. 38 17
31187752 2019
9
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. 71
10734064 2000
10
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. 71
1978554 1990
11
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. 71
2321910 1990
12
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. 71
2503817 1989
13
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). 71
2836867 1988
14
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. 71
2895981 1988
15
[Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia]. 71
7291768 1981
16
Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. 71
472761 1979
17
A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. 71
669721 1978
18
A glucose 6-phosphate dehydrogenase Gd (-) Castilla variant characterized by mild deficiency associated with drug-induced hemolytic anemia. 71
903703 1977
19
Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. 71
5448 1976
20
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. 71
5492291 1970
21
A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). 71
4974311 1969
22
Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). 71
4388132 1967
23
Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans. 17
31152693 2019
24
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 9 38
20426517 2010
25
The impact of phenotypic and genotypic G6PD deficiency on risk of plasmodium vivax infection: a case-control study amongst Afghan refugees in Pakistan. 9 38
20520804 2010
26
Screening for glucose-6-phosphate dehydrogenase deficiency in blood donors. 9 38
20423573 2010
27
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. 9 38
20051781 2010
28
Prevalence of glucose-6-phosphate dehydrogenase deficiency and sickle cell trait among blood donors in Riyadh. 9 38
20376264 2010
29
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and senile cataract in a Sardinian male population, Italy. 9 38
19995205 2009
30
Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. 9 38
19546473 2009
31
Impact of the method of G6PD deficiency assessment on genetic association studies of malaria susceptibility. 9 38
19789650 2009
32
Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility. 9 38
19223928 2009
33
[Genetic diagnosis for female carriers of glucose-6-phosphate dehydrogenase deficiency by RT-PCR-DGGE]. 9 38
19695182 2009
34
Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. 9 38
19589177 2009
35
Central retinal vein occlusion in an Army Ranger with glucose-6-phosphate dehydrogenase deficiency. 9 38
19739477 2009
36
Predictors of severe hemolysis in patients with glucose-6-phosphate dehydrogenase deficiency following exposure to oxidant stresses. 9 38
20118060 2009
37
Brucellosis triggering hemolytic anemia in glucose-6-phosphate dehydrogenase deficiency. 9 38
19494543 2009
38
Glucose-6-phosphate dehydrogenase deficiency in an endemic area for malaria in Manaus: a cross-sectional survey in the Brazilian Amazon. 9 38
19370159 2009
39
Comparison of detection of glucose-6-phosphate dehydrogenase deficiency using fluorescent spot test, enzyme assay and molecular method for prediction of severe neonatal hyperbilirubinaemia. 9 38
19224086 2009
40
Glucose-6-phosphate dehydrogenase deficiency associated stuttering priapism: report of a case. 9 38
18823322 2008
41
Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates. 9 38
19675737 2008
42
[Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in the sub-Saharan immigrant population of the Center and South Maresme region, Catalonia, Spain]. 9 38
18582416 2008
43
[Glucose-6-phosphate dehydrogenase deficiency: clinical presentation and eliciting factors]. 9 38
18547022 2008
44
New onset diabetes complicated by haemolysis and rhabdomyolysis: a case report and review of the literature. 9 38
18485212 2008
45
Evaluation of glucose-6-phosphate dehydrogenase deficiency without hemolysis in icteric newborns at Mazandaran province, Iran. 9 38
18817276 2008
46
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy. 9 38
18385045 2008
47
Prevalence of glucose-6-phosphate dehydrogenase deficiency in Northern Greece. 9 38
18290815 2008
48
Prevalence of beta-thalassemia trait and glucose-6-phosphate dehydrogenase deficiency in Iranian Jews. 9 38
18164966 2008
49
Glucose-6-phosphate dehydrogenase deficiency. 9 38
18177777 2008
50
High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. 9 38
19112496 2008

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 G6PD NM_000402.4(G6PD): c.576-60C> G single nucleotide variant Pathogenic rs2515904 X:153762771-153762771 X:154534556-154534556
2 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 X:153760484-153760484 X:154532269-154532269
3 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 X:153761337-153761337 X:154533122-154533122
4 G6PD NM_000402.4(G6PD): c.770G> T (p.Arg257Leu) single nucleotide variant Pathogenic rs137852328 X:153762340-153762340 X:154534125-154534125
5 G6PD NM_000402.4(G6PD): c.1466G> C (p.Arg489Pro) single nucleotide variant Pathogenic rs72554665 X:153760484-153760484 X:154532269-154532269
6 G6PD NM_000402.4(G6PD): c.1450C> T (p.Arg484Cys) single nucleotide variant Pathogenic rs398123546 X:153760605-153760605 X:154532390-154532390
7 G6PD NM_000402.4(G6PD): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs78365220 X:153763485-153763485 X:154535270-154535270
8 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 X:153762634-153762634 X:154534419-154534419
9 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 X:153764217-153764217 X:154536002-154536002
10 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs1050829 X:153763492-153763492 X:154535277-154535277
11 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs76723693 X:153761240-153761240 X:154533025-154533025
12 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 X:153760686-153760687 X:154532471-154532472
13 G6PD NM_000402.4(G6PD): c.*535G> T single nucleotide variant Uncertain significance rs1057515820 X:153759680-153759680 X:154531465-154531465
14 G6PD NM_000402.4(G6PD): c.*365G> A single nucleotide variant Uncertain significance rs1034742794 X:153759850-153759850 X:154531635-154531635
15 G6PD NM_000402.4(G6PD): c.861-11T> C single nucleotide variant Uncertain significance rs782622284 X:153761895-153761895 X:154533680-154533680
16 G6PD NM_000402.4(G6PD): c.*25C> T single nucleotide variant Uncertain significance rs781866772 X:153760190-153760190 X:154531975-154531975
17 G6PD NM_000402.4(G6PD): c.575+13G> A single nucleotide variant Uncertain significance rs781898381 X:153763370-153763370 X:154535155-154535155
18 G6PD NM_000402.4(G6PD): c.210+7A> C single nucleotide variant Uncertain significance rs369904290 X:153774244-153774244 X:154546029-154546029
19 G6PD NM_000402.4(G6PD): c.1254C> T (p.Asn418=) single nucleotide variant Uncertain significance rs782623392 X:153760905-153760905 X:154532690-154532690
20 G6PD NM_000402.4(G6PD): c.954+14C> T single nucleotide variant Uncertain significance rs782416820 X:153761777-153761777 X:154533562-154533562
21 G6PD NM_000402.4(G6PD): c.672C> G (p.Asp224Glu) single nucleotide variant Uncertain significance rs145247580 X:153762615-153762615 X:154534400-154534400
22 G6PD NM_000402.4(G6PD): c.*520G> A single nucleotide variant Uncertain significance rs782764609 X:153759695-153759695 X:154531480-154531480
23 G6PD NM_000402.4(G6PD): c.*357= single nucleotide variant Likely benign rs1050757 X:153759858-153759858 X:154531643-154531643
24 G6PD NM_001042351.2(G6PD): c.-111A> G single nucleotide variant Likely benign rs111827785 X:153775785-153775785 X:154547570-154547570
25 G6PD NM_000402.4(G6PD): c.1401= (p.Tyr467=) single nucleotide variant Benign/Likely benign rs2230037 X:153760654-153760654 X:154532439-154532439
26 G6PD G6PD: c.1455-13T> C single nucleotide variant Benign/Likely benign rs2071429 X:153760508-153760508 X:154532293-154532293
27 G6PD NM_000402.4(G6PD): c.944G> A (p.Arg315His) single nucleotide variant Benign rs74575103 X:153761801-153761801 X:154533586-154533586
28 G6PD NM_000402.4(G6PD): c.1206G> A (p.Gln402=) single nucleotide variant Benign rs2230036 X:153760953-153760953 X:154532738-154532738

Expression for Glucosephosphate Dehydrogenase Deficiency

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

Pathways for Glucosephosphate Dehydrogenase Deficiency

Pathways related to Glucosephosphate Dehydrogenase Deficiency according to KEGG:

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

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

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

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 9.54 UGT1A8 UGT1A1
2 oxygen binding GO:0019825 9.52 HBG2 HBB
3 transferase activity, transferring hexosyl groups GO:0016758 9.51 UGT1A8 UGT1A1
4 peroxidase activity GO:0004601 9.49 HBG2 HBB
5 steroid binding GO:0005496 9.48 UGT1A8 UGT1A1
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A8 UGT1A1
7 retinoic acid binding GO:0001972 9.43 UGT1A8 UGT1A1
8 UDP-glycosyltransferase activity GO:0008194 9.4 UGT1A8 UGT1A1
9 oxygen carrier activity GO:0005344 9.37 HBG2 HBB
10 organic acid binding GO:0043177 9.32 HBG2 HBB
11 haptoglobin binding GO:0031720 9.26 HBG2 HBB
12 hemoglobin binding GO:0030492 9.16 HP HBB
13 NADP binding GO:0050661 9.13 PGD H6PD G6PD
14 glucose-6-phosphate dehydrogenase activity GO:0004345 8.62 H6PD G6PD

Sources for Glucosephosphate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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