MCID: GLC009
MIFTS: 52

Glucosephosphate Dehydrogenase Deficiency

Categories: 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 73 20 43 54 42
Glucose 6 Phosphate Dehydrogenase Deficiency 73 43 29 6
Glucose-6-Phosphate Dehydrogenase Deficiency 12 20 43
Deficiency of Glucose-6-Phosphate Dehydrogenase 43 70
Hemolytic Anemia Due to G6pd Deficiency 20 6
Glucose 6-Phosphate Dehydrogenase Deficiency 36
Anemia, Hemolytic, Due to G6pd Deficiency 39
Deficiency of G-6pd 12
G6pdd 43

Classifications:



External Ids:

Disease Ontology 12 DOID:2862
KEGG 36 H01375
MeSH 44 D005955
NCIt 50 C98933
SNOMED-CT 67 124134002
UMLS 70 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus Genetics : 43 Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely. This destruction of red blood cells is called hemolysis.The most common medical problem associated with glucose-6-phosphate dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, and a rapid heart rate. In people with glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs (such as some antibiotics and medications used to treat malaria). Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants (a reaction called favism).Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild to severe jaundice in newborns. Many people with this disorder, however, never experience any signs or symptoms and are unaware that they have the condition.

MalaCards based summary : Glucosephosphate Dehydrogenase Deficiency, also known as g6pd deficiency, is related to 6-phosphogluconate dehydrogenase deficiency and 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 Dapsone and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include spleen, kidney and liver.

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

GARD : 20 Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down ( hemolysis ) when the body is exposed to certain foods, drugs, infections or stress. It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin ( jaundice ). G6PD deficiency is inherited in an X-linked recessive manner and symptoms are more common in males (particularly African Americans and those from certain parts of Africa, Asia, and the Mediterranean). It is caused by mutations in the G6PD gene. Treatment may involve medicines to treat infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases.

MedlinePlus : 42 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include Paleness Jaundice Dark urine Fatigue Shortness of breath Enlarged spleen Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine

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

Wikipedia : 73 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 380)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 32.2 PGD G6PD
2 neonatal jaundice 32.1 UGT1A1 SLCO1B1 PKLR G6PD
3 anemia, nonspherocytic hemolytic, due to g6pd deficiency 31.9 LY6G6D LCT IKBKG HP G6PD CASK
4 kernicterus 31.9 UGT1A8 UGT1A1 G6PD
5 sickle cell disease 31.6 UGT1A1 HP HBG2 HBB G6PD
6 methemoglobinemia 31.6 HP HBG2 HBB G6PD
7 sickle cell anemia 31.5 UGT1A8 UGT1A1 HBG2 HBB G6PD
8 deficiency anemia 31.4 PKLR IKBKG HP HBG2 HBE1 HBB
9 hemoglobinopathy 31.3 UGT1A1 HP HBG2 HBE1 HBB G6PD
10 beta-thalassemia 31.3 UGT1A1 HBG2 HBE1 HBB G6PD
11 plasmodium falciparum malaria 31.2 HP HBB G6PD
12 gilbert syndrome 31.1 UGT1A8 UGT1A1 SLCO1B1 HP G6PD CYP2D6
13 hereditary elliptocytosis 31.1 SMIM1 HBE1 HBB G6PD
14 thalassemia minor 31.0 UGT1A1 HBB
15 pyruvate kinase deficiency of red cells 31.0 PKLR HBE1 G6PD
16 blackwater fever 31.0 HP G6PD
17 blood group incompatibility 30.9 UGT1A8 UGT1A1 G6PD
18 congenital hemolytic anemia 30.8 PKLR HP HBG2 HBE1 HBB G6PD
19 crigler-najjar syndrome, type i 30.8 UGT1A8 UGT1A1 SLCO1B1
20 cholelithiasis 30.8 UGT1A8 UGT1A1 HP HBB
21 congenital methemoglobinemia 30.7 HBG2 G6PD
22 alpha-thalassemia 30.7 UGT1A8 UGT1A1 HP HBG2 HBE1 HBB
23 hemolytic anemia 30.6 UGT1A1 PKLR HP HBG2 HBB G6PD
24 hereditary spherocytosis 30.6 UGT1A8 UGT1A1 PKLR HP HBG2 HBE1
25 hemoglobin h disease 30.6 HBG2 HBE1 HBB G6PD
26 congenital nonspherocytic hemolytic anemia 30.6 PKLR HBE1 G6PD
27 hemoglobin d disease 30.6 HBE1 HBB
28 acquired methemoglobinemia 30.4 HBG2 G6PD
29 bilirubin metabolic disorder 30.3 UGT1A8 UGT1A1 SLCO1B1 SLC22A7 HP HBG2
30 malaria 30.1 PKLR HP HBE1 HBB G6PD CYP2D6
31 mitochondrial complex iv deficiency, nuclear type 5 11.0
32 thalassemia 10.9
33 viral hepatitis 10.8
34 hepatitis a 10.6
35 typhoid fever 10.6
36 acute kidney failure 10.6
37 hemoglobinuria 10.6
38 cataract 10.6
39 diabetes mellitus, ketosis-prone 10.6
40 plasmodium vivax malaria 10.5
41 kidney disease 10.5
42 bacterial infectious disease 10.5
43 hemoglobin e disease 10.5
44 elliptocytosis 2 10.5
45 type 1 diabetes mellitus 10.5
46 leprosy 3 10.5
47 yemenite deaf-blind hypopigmentation syndrome 10.5
48 elliptocytosis 3 10.5
49 hepatitis e 10.5
50 hansen's disease 10.5

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 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dapsone Approved, Investigational Phase 4 80-08-0 2955
2
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
3
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
4
Dihydroartemisinin Approved, Experimental, Investigational Phase 4 71939-50-9 6918483
5
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8 5079497
6
Mefloquine Approved, Investigational Phase 4 53230-10-7 4046
7
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
8
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
9
Primaquine Approved Phase 4 90-34-6 4908
10
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
11 Pharmaceutical Solutions Phase 4
12
Bilirubin Phase 4 635-65-4 5280352
13 Analgesics, Non-Narcotic Phase 4
14 Analgesics Phase 4
15 Fibrinolytic Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 Cyclooxygenase Inhibitors Phase 4
18 Purinergic P2Y Receptor Antagonists Phase 4
19 Antipyretics Phase 4
20 Platelet Aggregation Inhibitors Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4
23 Anthelmintics Phase 4
24 Antiviral Agents Phase 4
25 Amebicides Phase 4
26 Antimalarials Phase 4
27 Antirheumatic Agents Phase 4
28 Antiparasitic Agents Phase 4
29 Chloroquine diphosphate Phase 4 50-63-5
30 Anti-Infective Agents Phase 4
31 Antiprotozoal Agents Phase 4
32 Artemisinine Phase 2, Phase 3
33 Artemisinins Phase 2, Phase 3
34
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
35
Pembrolizumab Approved Phase 2 1374853-91-4
36 Tin mesoporphyrin Phase 2
37 Immunoglobulins Phase 2
38 Antibodies Phase 2
39 Immunologic Factors Phase 2
40
tafenoquine Approved, Investigational Phase 1 106635-80-7 115358
41
Methylene blue Approved, Investigational Phase 1 61-73-4
42
Amodiaquine Approved, Investigational 86-42-0 2165
43
Artemether Approved 71963-77-4 9796294 119380 68911
44
Lumefantrine Approved 82186-77-4 6437380
45
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
46 Vitamin B9
47 Nutrients
48 Trace Elements
49 Protective Agents
50 Micronutrients

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 A Randomized, Double-blind, Active-Controlled Trial Comparing the Safety and Efficacy of Aspirin Versus Clopidogrel in Stroke Patients With Glucose-6-phosphate Dehydrogenase Deficiency Recruiting NCT04088513 Phase 4 Aspirin;Clopidogrel
5 Defining Effective, Appropriate, Implementable Strategies for Malaria Elimination in Military Forces in Cambodia as a Model for Mobile Populations Active, not recruiting NCT02653898 Phase 4 DHA-PIP;Primaquine;Artesunate + Mefloquine;Permethrin (Insecticide treated uniform)
6 Developing a Methodology to Assess 8-aminoquinoline Associated Haemolytic Risk in Females Heterozygous for G6PD in Endemic Populations Terminated NCT03337152 Phase 4 primaquine;chloroquine + primaquine
7 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
8 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
9 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
10 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
11 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
12 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
13 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
14 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
15 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)
16 Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen Completed NCT03934450 Phase 1 RPQ;SPQ;Primaquine Phosphate;Placebo
17 Metabolism and Pharmacokinetics of Primaquine Enantiomers in G6PD Deficient Human Volunteers Receiving a Five Day Dose Regimen Recruiting NCT04073953 Phase 1 RPQ;SPQ;Placebo
18 Evaluation of a Point-of-care G6PD Diagnostic Test Completed NCT02104518
19 Correlation of G6PD Activity Across Different Sample Sources, and Different G6PD Testing Platforms Completed NCT02069236
20 Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase Deficiency: Diagnostic Accuracy and Repeatability in Capillary Samples Completed NCT04054661
21 Effect of Glucose-6-phosphate Dehydrogenase Deficiency on Donor Red Blood Cell Storage Completed NCT04081272 Sodium Chromate Cr51
22 A New Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine
23 Validation of Diagnostics to Identify Glucose-6-phosphate Dehydrogenase Activity in the US Completed NCT04010695
24 Comparative Evaluation of the FINDERTM Instrument and FINDERTM G6PD Cartridge in Adults and Neonates Completed NCT04146246
25 Effects of Alpha Lipoic Acid Supplementation in G6PD Deficient Individuals After Acute Exercise Completed NCT02937363
26 Multidisciplinary Studies of Malaria Protection by Hemoglobinopathies and G6PD Deficiency in Mali Completed NCT00342043
27 Evaluation of a Diagnostic to Identify G6PD Deficiency in Brazil Recruiting NCT04033640
28 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
29 Effects of N-acetyl Cystein (NAC) Supplementation in G6PD Deficient Individuals After Acute Exercise Not yet recruiting NCT02937376 Early Phase 1 N-acetyl cystein
30 Evaluation of the STANDARD G6PD Rapid Test for Assaying the Enzymatic Activity of G6PD in French Guiana Not yet recruiting NCT04698980
31 Targeting High-risk Populations With Enhanced Reactive Case Detection: a Study to Assess the Effectiveness and Feasibility for Reducing Plasmodium Falciparum and P. Vivax Malaria in Southern Lao Peoples Democratic Republic Not yet recruiting NCT04416945

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:

40
Spleen, Kidney, Liver, Heart, Breast, Monocytes, Endothelial

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 2049)
# Title Authors PMID Year
1
Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. 54 6 61
19589177 2009
2
Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China. 61 54 6
17587269 2007
3
Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. 61 54 6
16143877 2005
4
Molecular basis of G6PD deficiency in India. 6 61 54
15315792 2004
5
Molecular characterization of G6PD deficiency in Cyprus. 6 61 54
15223006 2004
6
G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia. 54 6 61
15906717 2003
7
Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan. 54 6 61
11400791 1999
8
A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. 6 61 54
8533762 1995
9
Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. 54 61 6
2253938 1990
10
Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China. 61 6
30315739 2018
11
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian. 61 6
30045279 2018
12
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates. 6 61
29339739 2018
13
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. 6 61
28195434 2017
14
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. 6 61
27519946 2016
15
Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. 6 61
27213370 2016
16
Glucose-6-Phosphate Dehydrogenase Deficiency. 6 61
27040960 2016
17
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province]. 61 6
26829728 2016
18
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. 61 6
27880809 2016
19
Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China. 61 6
25440321 2015
20
Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq. 6 61
25548459 2015
21
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China. 61 6
25775246 2015
22
Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. 61 6
26823837 2015
23
Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border. 6 61
26226515 2015
24
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya. 6 61
25201310 2014
25
G6PD deficiency in Latin America: systematic review on prevalence and variants. 6 61
25141282 2014
26
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. 6 61
24460025 2014
27
A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan. 61 6
24586352 2014
28
Field trial evaluation of the performances of point-of-care tests for screening G6PD deficiency in Cambodia. 61 6
25541721 2014
29
Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study. 6 61
26060661 2013
30
Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency. 61 6
23965028 2013
31
Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia. 6 61
22963789 2013
32
Prevalence of G6PD Deficiency in Iran. 6 61
24505519 2013
33
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity. 61 6
23006493 2012
34
Neonatal hyperbilirubinemia in infants with G6PD c.563C > T Variant. 61 6
22906047 2012
35
G6PD genotype and its associated enzymatic activity in a Chinese population. 6 61
21874587 2012
36
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians. 6 61
22906837 2012
37
Prevalence and distribution of glucose-6-phosphate dehydrogenase (G6PD) variants in Thai and Burmese populations in malaria endemic areas of Thailand. 61 6
22171972 2011
38
Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi. 61 6
21302115 2011
39
Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy. 6 61
21479984 2011
40
Molecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in huzestan Province, Southwest Iran. 6 61
23365477 2011
41
Two new variants of G6PD deficiencies in Singapore. 6 61
21446359 2010
42
A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene. 6 61
20582980 2010
43
Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq. 61 6
20602793 2010
44
Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis. 6 61
20203002 2010
45
A prolonged neonatal jaundice associated with a rare G6PD mutation. 61 6
19422023 2009
46
Development and evaluation of a reverse dot blot assay for the simultaneous detection of six common Chinese G6PD mutations and one polymorphism. 6 61
18329300 2008
47
Higher infection of dengue virus serotype 2 in human monocytes of patients with G6PD deficiency. 6 61
18270558 2008
48
Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar. 61 6
18046504 2008
49
Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PD(Plymouth) and G6PD(Mahidol): Evidence for defective protein folding as the basis of disease. 6 61
17959407 2008
50
Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam. 6 61
17726510 2007

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PD NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) SNV Pathogenic 10394 rs137852332 GRCh37: X:153762604-153762604
GRCh38: X:154534389-154534389
2 G6PD NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) SNV Pathogenic 10396 rs137852334 GRCh37: X:153760910-153760910
GRCh38: X:154532695-154532695
3 G6PD NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) SNV Pathogenic 10397 rs137852335 GRCh37: X:153760889-153760889
GRCh38: X:154532674-154532674
4 G6PD NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) SNV Pathogenic 10398 rs137852336 GRCh37: X:153760840-153760840
GRCh38: X:154532625-154532625
5 G6PD NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) SNV Pathogenic 10399 rs137852337 GRCh37: X:153760649-153760649
GRCh38: X:154532434-154532434
6 G6PD NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) SNV Pathogenic 10412 rs137852346 GRCh37: X:153761849-153761849
GRCh38: X:154533634-154533634
7 G6PD NM_000402.4(G6PD):c.1268G>A (p.Arg423His) SNV Pathogenic 10370 rs137852316 GRCh37: X:153760891-153760891
GRCh38: X:154532676-154532676
8 G6PD NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic 10381 rs387906468 GRCh37: X:153760967-153760967
GRCh38: X:154532752-154532752
9 G6PD NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) SNV Pathogenic 10390 rs137852329 GRCh37: X:153760980-153760980
GRCh38: X:154532765-154532765
10 G6PD NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) SNV Pathogenic 10414 rs137852347 GRCh37: X:153761244-153761244
GRCh38: X:154533029-154533029
11 G6PD G6PD Amsterdam Deletion Pathogenic 10419 GRCh37:
GRCh38:
12 G6PD NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) SNV Pathogenic 10422 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
13 G6PD NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) SNV Pathogenic 10393 rs137852331 GRCh37: X:153762704-153762704
GRCh38: X:154534489-154534489
14 G6PD NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) SNV Pathogenic 804133 rs1603411214 GRCh37: X:153760482-153760482
GRCh38: X:154532267-154532267
15 G6PD NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic 804134 rs137852325 GRCh37: X:153760877-153760877
GRCh38: X:154532662-154532662
16 G6PD NM_000402.4(G6PD):c.683G>A (p.Arg228His) SNV Pathogenic 10417 rs137852332 GRCh37: X:153762604-153762604
GRCh38: X:154534389-154534389
17 G6PD NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) SNV Pathogenic 10407 rs137852343 GRCh37: X:153762680-153762680
GRCh38: X:154534465-154534465
18 G6PD NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) SNV Pathogenic 10422 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
19 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
20 G6PD , IKBKG NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) Microsatellite Pathogenic 10400 rs137852338 GRCh37: X:153774261-153774263
GRCh38: X:154546046-154546048
21 G6PD G6PD NARA Deletion Pathogenic 10411 rs587776730 GRCh37: X:153761228-153761251
GRCh38: X:154533013-154533036
22 G6PD NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) SNV Pathogenic 854215 GRCh37: X:153763464-153763464
GRCh38: X:154535249-154535249
23 G6PD NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) SNV Pathogenic 968939 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
24 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 10361 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277
25 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met) SNV Pathogenic 37123 rs1050828 GRCh37: X:153764217-153764217
GRCh38: X:154536002-154536002
26 G6PD NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) SNV Pathogenic 93493 rs398123546 GRCh37: X:153760605-153760605
GRCh38: X:154532390-154532390
27 G6PD NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) SNV Pathogenic 100058 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
28 G6PD NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) SNV Pathogenic 10371 rs137852317 GRCh37: X:153760626-153760626
GRCh38: X:154532411-154532411
29 G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His) SNV Pathogenic 10372 rs137852318 GRCh37: X:153761811-153761811
GRCh38: X:154533596-154533596
30 G6PD NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) SNV Pathogenic 958165 GRCh37: X:153760618-153760618
GRCh38: X:154532403-154532403
31 G6PD NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) SNV Pathogenic 10410 rs137852345 GRCh37: X:153760987-153760987
GRCh38: X:154532772-154532772
32 G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) SNV Pathogenic 10363 rs5030869 GRCh37: X:153761205-153761205
GRCh38: X:154532990-154532990
33 G6PD NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) SNV Pathogenic 100058 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
34 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic 10386 rs137852327 GRCh37: X:153761337-153761337
GRCh38: X:154533122-154533122
35 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic 100057 rs5030868 GRCh37: X:153762634-153762634
GRCh38: X:154534419-154534419
36 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic 100057 rs5030868 GRCh37: X:153762634-153762634
GRCh38: X:154534419-154534419
37 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 100055 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277
38 G6PD NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu) SNV Pathogenic 10387 rs137852328 GRCh37: X:153762340-153762340
GRCh38: X:154534125-154534125
39 G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) SNV Pathogenic 10367 rs137852314 GRCh37: X:153762710-153762710
GRCh38: X:154534495-154534495
40 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His) SNV Pathogenic 100059 rs72554664 GRCh37: X:153760472-153760472
GRCh38: X:154532257-154532257
41 G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) SNV Pathogenic 10363 rs5030869 GRCh37: X:153761205-153761205
GRCh38: X:154532990-154532990
42 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic 10386 rs137852327 GRCh37: X:153761337-153761337
GRCh38: X:154533122-154533122
43 G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His) SNV Pathogenic 10372 rs137852318 GRCh37: X:153761811-153761811
GRCh38: X:154533596-154533596
44 G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) SNV Pathogenic 10367 rs137852314 GRCh37: X:153762710-153762710
GRCh38: X:154534495-154534495
45 G6PD NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) SNV Pathogenic 93493 rs398123546 GRCh37: X:153760605-153760605
GRCh38: X:154532390-154532390
46 G6PD NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) SNV Pathogenic 93499 rs78365220 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
47 G6PD NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) SNV Pathogenic 93499 rs78365220 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
48 G6PD NM_000402.4(G6PD):c.632A>T (p.Asp211Val) SNV Pathogenic 37203 rs5030872 GRCh37: X:153762655-153762655
GRCh38: X:154534440-154534440
49 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His) SNV Pathogenic 100059 rs72554664 GRCh37: X:153760472-153760472
GRCh38: X:154532257-154532257
50 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 100055 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277

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
11.61 UGT1A1 SLCO1B1 SLC22A7 CYP2D6
2 11.59 UGT1A8 UGT1A1 PGD HBB G6PD CYP2D6
3
Show member pathways
11.51 UGT1A8 UGT1A1 CYP2D6
4 11.41 UGT1A8 UGT1A1 SLCO1B1 SLC22A7
5
Show member pathways
11.35 UGT1A8 UGT1A1 SLCO1B1
6
Show member pathways
11.05 UGT1A8 UGT1A1 SLCO1B1 CYP2D6
7
Show member pathways
11.03 UGT1A1 SLCO1B1 CYP2D6
8
Show member pathways
10.5 UGT1A1 CYP2D6
9 10.15 PGD G6PD

GO Terms for Glucosephosphate Dehydrogenase Deficiency

Cellular components related to Glucosephosphate Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.46 HP HBG2 HBE1 HBB
2 endocytic vesicle lumen GO:0071682 9.26 HP HBB
3 hemoglobin complex GO:0005833 9.13 HBG2 HBE1 HBB
4 haptoglobin-hemoglobin complex GO:0031838 8.92 HP HBG2 HBE1 HBB

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.74 UGT1A1 HBE1 G6PD
2 steroid metabolic process GO:0008202 9.73 UGT1A8 UGT1A1 CYP2D6
3 organic anion transport GO:0015711 9.58 SLCO1B1 SLC22A7
4 cellular glucuronidation GO:0052695 9.55 UGT1A8 UGT1A1
5 pentose-phosphate shunt GO:0006098 9.54 PGD G6PD
6 hydrogen peroxide catabolic process GO:0042744 9.54 HBG2 HBE1 HBB
7 xenobiotic glucuronidation GO:0052697 9.52 UGT1A8 UGT1A1
8 flavonoid glucuronidation GO:0052696 9.51 UGT1A8 UGT1A1
9 drug metabolic process GO:0017144 9.5 UGT1A8 UGT1A1 CYP2D6
10 heterocycle metabolic process GO:0046483 9.49 UGT1A1 CYP2D6
11 negative regulation of fatty acid metabolic process GO:0045922 9.48 UGT1A8 UGT1A1
12 coumarin metabolic process GO:0009804 9.46 UGT1A8 CYP2D6
13 flavone metabolic process GO:0051552 9.43 UGT1A8 UGT1A1
14 pentose-phosphate shunt, oxidative branch GO:0009051 9.4 PGD G6PD
15 negative regulation of steroid metabolic process GO:0045939 9.26 UGT1A8 UGT1A1
16 cellular oxidant detoxification GO:0098869 9.26 HP HBG2 HBE1 HBB
17 pentose biosynthetic process GO:0019322 9.16 PGD G6PD
18 oxygen transport GO:0015671 8.8 HBG2 HBE1 HBB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.88 UGT1A8 UGT1A1 SMIM1 IKBKG G6PD
2 heme binding GO:0020037 9.71 HBG2 HBE1 HBB CYP2D6
3 peroxidase activity GO:0004601 9.54 HBG2 HBE1 HBB
4 oxygen binding GO:0019825 9.5 HBG2 HBE1 HBB
5 UDP-glycosyltransferase activity GO:0008194 9.49 UGT1A8 UGT1A1
6 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLCO1B1 SLC22A7
7 hemoglobin binding GO:0030492 9.43 HP HBB
8 oxygen carrier activity GO:0005344 9.43 HBG2 HBE1 HBB
9 organic acid binding GO:0043177 9.33 HBG2 HBE1 HBB
10 haptoglobin binding GO:0031720 9.13 HBG2 HBE1 HBB
11 hemoglobin alpha binding GO:0031721 8.8 HBG2 HBE1 HBB

Sources for Glucosephosphate Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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