MCID: GLC009
MIFTS: 54

Glucosephosphate Dehydrogenase Deficiency

Categories: Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Glucosephosphate Dehydrogenase Deficiency

MalaCards integrated aliases for Glucosephosphate Dehydrogenase Deficiency:

Name: Glucosephosphate Dehydrogenase Deficiency 11 43 14 16
G6pd Deficiency 42 75 28 53 5 41
Glucose-6-Phosphate Dehydrogenase Deficiency 11 19 42 5 75
Deficiency of Glucose-6-Phosphate Dehydrogenase 42 71
Glucose 6 Phosphate Dehydrogenase Deficiency 42 75
Deficiency of G-6pd 11
G6pdd 42

Classifications:



External Ids:

Disease Ontology 11 DOID:2862
MeSH 43 D005955
NCIt 49 C98933
SNOMED-CT 68 124134002
UMLS 71 C2939465

Summaries for Glucosephosphate Dehydrogenase Deficiency

MedlinePlus Genetics: 42 Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that 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 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 Metabolism and Drug ADME. The drugs Artenimol and Piperaquine have been mentioned in the context of this disorder. Affiliated tissues include heart, spleen and skin.

MedlinePlus: 41 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

GARD: 19 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 genetic changes in the G6PD gene.

Disease Ontology: 11 A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).

Wikipedia: 75 Glucose-6-phosphate dehydrogenase deficiency (G6PDD), which is the most common enzyme deficiency... 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 472)
# Related Disease Score Top Affiliating Genes
1 6-phosphogluconate dehydrogenase deficiency 32.3 PGD G6PD
2 anemia, nonspherocytic hemolytic, due to g6pd deficiency 32.3 LY6G6D LOC107181288 IKBKG HP G6PD CASK
3 neonatal jaundice 32.0 UGT1A8 UGT1A1 SLCO1B1 PKLR HBG2 G6PD
4 deficiency anemia 31.9 PKLR HP HBG2 HBE1 HBB G6PD
5 kernicterus 31.9 UGT1A8 UGT1A1 G6PD ALB
6 sickle cell disease 31.9 UGT1A1 HBG2 HBB G6PD
7 sickle cell anemia 31.7 UGT1A8 UGT1A1 HP HBG2 HBE1 HBB
8 plasmodium falciparum malaria 31.7 HP HBB G6PD
9 thalassemia 31.7 UGT1A1 HP HBG2 HBE1 HBB G6PD
10 plasmodium vivax malaria 31.6 HBE1 G6PD CYP2D6
11 methemoglobinemia 31.6 HP HBG2 HBB G6PD ALB
12 beta-thalassemia 31.5 UGT1A1 HBG2 HBE1 HBB G6PD
13 hepatitis a 31.4 IKBKG G6PD ALB
14 hemoglobinopathy 31.4 HP HBG2 HBE1 HBB G6PD ALB
15 hemoglobin e disease 31.3 HBG2 HBE1 HBB
16 gilbert syndrome 31.3 UGT1A8 UGT1A1 SLCO1B1 HP G6PD CYP2D6
17 congenital hemolytic anemia 31.2 PKLR HP HBG2 HBE1 HBB G6PD
18 histiocytosis-lymphadenopathy plus syndrome 31.2 HBE1 HBB G6PD
19 hereditary elliptocytosis 31.2 PKLR HBE1 HBB G6PD
20 alpha-thalassemia 31.2 UGT1A8 UGT1A1 HP HBG2 HBE1 HBB
21 fetal hemoglobin quantitative trait locus 1 31.1 HBG2 HBE1 HBB
22 hereditary spherocytosis 31.1 UGT1A8 UGT1A1 PKLR HP HBE1 HBB
23 thalassemia minor 31.1 HBG2 HBE1 HBB
24 blackwater fever 31.0 HP G6PD
25 hemoglobin c disease 30.9 HBG2 HBE1 HBB
26 cholelithiasis 30.9 UGT1A8 UGT1A1 HP HBB ALB
27 blood group incompatibility 30.9 UGT1A8 UGT1A1 G6PD ALB
28 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.6 UGT1A8 UGT1A1
29 hemoglobin d disease 30.6 HP HBE1 HBB ALB
30 crigler-najjar syndrome, type i 30.6 UGT1A8 UGT1A1 SLCO1B1 ALB
31 hemolytic anemia 30.6 UGT1A1 PKLR HP HBG2 HBE1 HBB
32 phenylketonuria 30.6 PRODH HBB G6PD ALB
33 congenital nonspherocytic hemolytic anemia 30.5 PKLR G6PD
34 neonatal anemia 30.5 PKLR HBB
35 acquired methemoglobinemia 30.4 HBG2 G6PD
36 bilirubin metabolic disorder 30.3 UGT1A8 UGT1A1 SLCO1B1 SLC22A7 PRODH HP
37 malaria 30.2 PKLR HP HBG2 HBE1 HBB G6PD
38 chronic granulomatous disease 30.2 IKBKG HBG2 G6PD
39 viral hepatitis 10.8
40 hemoglobin se disease 10.7
41 cataract 10.7
42 kidney disease 10.7
43 diabetes mellitus, ketosis-prone 10.7
44 acute kidney failure 10.6
45 typhoid fever 10.6
46 hemoglobinuria 10.6
47 type 1 diabetes mellitus 10.6
48 cardiovascular system disease 10.5
49 gallbladder disease 1 10.5
50 elliptocytosis 2 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 all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artenimol Approved, Experimental, Investigational Phase 4 71939-50-9 540327
2
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8
3
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
4
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
5
Primaquine Approved Phase 4 90-34-6 4908
6
Chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
7
bilirubin Phase 4 635-65-4 5280352
8 Pharmaceutical Solutions Phase 4
9 Analgesics Phase 4
10 Neurotransmitter Agents Phase 4
11 Fibrinolytic Agents Phase 4
12 Antipyretics Phase 4
13 Purinergic P2Y Receptor Antagonists Phase 4
14 Cyclooxygenase Inhibitors Phase 4
15 Platelet Aggregation Inhibitors Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Anti-Inflammatory Agents Phase 4
19 Anti-Infective Agents Phase 4
20 Antiprotozoal Agents Phase 4
21 Antiparasitic Agents Phase 4
22 Antimalarials Phase 4
23 Amebicides Phase 4
24 Antirheumatic Agents Phase 4
25 Chloroquine diphosphate Phase 4 50-63-5
26 Tin mesoporphyrin Phase 2
27 Anthelmintics Phase 2
28
Methylene blue Approved, Investigational Phase 1 61-73-4 6099
29
Tafenoquine Approved, Investigational Phase 1 106635-80-7 115358
30
Amodiaquine Approved, Investigational 86-42-0 2165
31
Artesunate Approved, Investigational 88495-63-0 6917864 5464098
32
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
33
Lipoic acid Approved, Investigational, Nutraceutical 1200-22-2 864 6112
34 Chrysarobin
35 Cola
36 Antioxidants
37 Alpha-lipoic Acid
38 Folate
39 Vitamins
40 Vitamin B9
41 Trace Elements
42 Vitamin B Complex
43 Micronutrients
44 Protective Agents

Interventional clinical trials:

(show all 27)
# 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 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
4 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
5 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
6 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
7 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
8 Metabolism and Pharmacokinetics of Primaquine Enantiomers in G6PD Deficient Human Volunteers Receiving a Five Day Dose Regimen Unknown status NCT04073953 Phase 1 RPQ;SPQ;Placebo
9 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)
10 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
11 Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen Completed NCT03934450 Phase 1 RPQ;SPQ;Primaquine Phosphate;Placebo
12 A New Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine
13 Evaluation of a Diagnostic to Identify G6PD Deficiency in Brazil Completed NCT04033640
14 Multidisciplinary Studies of Malaria Protection by Hemoglobinopathies and G6PD Deficiency in Mali Completed NCT00342043
15 Comparative Evaluation of the FINDERTM Instrument and FINDERTM G6PD Cartridge in Adults and Neonates Completed NCT04146246
16 Effect of Glucose-6-phosphate Dehydrogenase Deficiency on Donor Red Blood Cell Storage Completed NCT04081272 Sodium Chromate Cr51
17 Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase Deficiency: Diagnostic Accuracy and Repeatability in Capillary Samples Completed NCT04054661
18 Validation of Diagnostics to Identify Glucose-6-phosphate Dehydrogenase Activity in the US Completed NCT04010695
19 Effects of Alpha Lipoic Acid Supplementation in G6PD Deficient Individuals After Acute Exercise Completed NCT02937363
20 Evaluation of a Point-of-care G6PD Diagnostic Test Completed NCT02104518
21 Correlation of G6PD Activity Across Different Sample Sources, and Different G6PD Testing Platforms Completed NCT02069236
22 Prevalence of G6PD Deficiency in Cerebral Infarction Patients and the Correlation With Prognosis in Shaanxi Province Recruiting NCT05026489
23 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
24 Operational Feasibility of Appropriate Radical Cure of Plasmodium Vivax With Tafenoquine or Primaquine After Quantitative G6PD Testing in Brazil Recruiting NCT05096702 Tafenoquine;Primaquine
25 Evaluation of the STANDARD G6PD Rapid Test for Assaying the Enzymatic Activity of G6PD in French Guiana Recruiting NCT04698980
26 The Association Between Oxidative Stress and Carbohydrate Metabolism Disorders in G6PD Deficient Individuals Not yet recruiting NCT05571748
27 Effects of N-acetyl Cystein (NAC) Supplementation in G6PD Deficient Individuals After Acute Exercise Not yet recruiting NCT02937376 Early Phase 1 N-acetyl cystein

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 G6pd Deficiency 28

Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

Organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

MalaCards : Heart, Spleen, Skin, Kidney, Liver, Globus Pallidus, Skeletal Muscle

Publications for Glucosephosphate Dehydrogenase Deficiency

Articles related to Glucosephosphate Dehydrogenase Deficiency:

(show top 50) (show all 3874)
# Title Authors PMID Year
1
Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. 53 62 5
19589177 2009
2
Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China. 53 62 5
17587269 2007
3
Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. 53 62 5
16143877 2005
4
Molecular basis of G6PD deficiency in India. 53 62 5
15315792 2004
5
Molecular characterization of G6PD deficiency in Cyprus. 53 62 5
15223006 2004
6
Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase. 53 62 5
14757424 2004
7
G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia. 53 62 5
15906717 2003
8
[Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene]. 53 62 5
11295127 2001
9
Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan. 53 62 5
11400791 1999
10
Genetic heterogeneity at the glucose-6-phosphate dehydrogenase locus in southern Italy: a study on a population from the Matera district. 53 62 5
2253938 1990
11
Acute Hemolytic Anemia Caused by G6PD Deficiency in Children in Mayotte: A Frequent and Severe Complication. 62 5
34966093 2022
12
Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population. 62 5
35840819 2022
13
A case of G6PD Utrecht associated with β-thalassemia responding to splenectomy. 62 5
35695473 2022
14
Acquired glucose 6-phosphate dehydrogenase (G6PD) deficiency in a patient with Chronic Myelomonocytic Leukemia. 62 5
34989400 2022
15
Combined effects of double mutations on catalytic activity and structural stability contribute to clinical manifestations of glucose-6-phosphate dehydrogenase deficiency. 62 5
34934109 2021
16
G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome. 62 5
34643346 2021
17
Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population. 62 5
34620237 2021
18
Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Females from Previously Malaria Endemic Regions in Northeastern Thailand and Identification of a Novel G6PD Variant. 62 5
34007417 2021
19
Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population. 62 5
33413378 2021
20
Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations. 62 5
33069889 2020
21
Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution. 62 5
33051526 2020
22
Glucose-6-phosphate dehydrogenase deficiency. 62 5
32702756 2020
23
Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia. 62 5
32387441 2020
24
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency. 62 5
32680472 2020
25
Functional and structural analysis of double and triple mutants reveals the contribution of protein instability to clinical manifestations of G6PD variants. 62 5
32387609 2020
26
Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants. 62 5
32425388 2020
27
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation. 62 5
31863082 2020
28
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017. 62 5
31489982 2020
29
A Novel Variant in G6PD (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity. 62 5
32987391 2020
30
Fine Mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency in a Rural Malaria Area of South West Odisha Using the Clinical, Hematological and Molecular Approach. 62 5
32180910 2020
31
G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population. 62 5
31862010 2019
32
Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants. 62 5
33072997 2019
33
G6PD deficiency: An update. 62 5
31609781 2019
34
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan. 62 5
31294066 2019
35
Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania. 62 5
31525211 2019
36
Molecular characterization and mapping of glucose-6-phosphate dehydrogenase (G6PD) mutations in the Greater Mekong Subregion. 62 5
30674319 2019
37
The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China. 62 5
30077011 2018
38
Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population. 62 5
30096395 2018
39
Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China. 62 5
30315739 2018
40
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian. 62 5
30045279 2018
41
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution. 62 5
33636823 2018
42
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence. 62 5
29333274 2018
43
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates. 62 5
29339739 2018
44
A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency. 62 5
28583873 2017
45
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. 62 5
28195434 2017
46
Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency. 62 5
28028996 2017
47
Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. 62 5
27914961 2017
48
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World. 62 5
27853304 2016
49
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. 62 5
27519946 2016
50
Rapid detection of G6PD mutations by multicolor melting curve analysis. 62 5
27495838 2016

Variations for Glucosephosphate Dehydrogenase Deficiency

ClinVar genetic disease variations for Glucosephosphate Dehydrogenase Deficiency:

5 (show top 50) (show all 482)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PD NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic
10381 rs387906468 GRCh37: X:153760967-153760967
GRCh38: X:154532752-154532752
2 G6PD NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) SNV Pathogenic
1685831 GRCh37: X:153760926-153760926
GRCh38: X:154532711-154532711
3 G6PD NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) SNV Pathogenic
1685833 GRCh37: X:153763545-153763545
GRCh38: X:154535330-154535330
4 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic
434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
5 G6PD NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) SNV Pathogenic
10398 rs137852336 GRCh37: X:153760840-153760840
GRCh38: X:154532625-154532625
6 G6PD G6PD Amsterdam DEL Pathogenic
10419 rs2070404412 GRCh37:
GRCh38:
7 G6PD NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) SNV Pathogenic
10406 rs78478128 GRCh37: X:153764383-153764383
GRCh38: X:154536168-154536168
8 G6PD NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) SNV Pathogenic
Pathogenic
10422 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
9 G6PD NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) SNV Pathogenic
Pathogenic
10401 rs137852339 GRCh37: X:153761259-153761259
GRCh38: X:154533044-154533044
10 G6PD NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) SNV Pathogenic
804133 rs1603411214 GRCh37: X:153760482-153760482
GRCh38: X:154532267-154532267
11 G6PD NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic
804134 rs137852325 GRCh37: X:153760877-153760877
GRCh38: X:154532662-154532662
12 G6PD NM_000402.4(G6PD):c.683G>A (p.Arg228His) SNV Pathogenic
10417 rs137852332 GRCh37: X:153762604-153762604
GRCh38: X:154534389-154534389
13 G6PD NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) SNV Pathogenic
10407 rs137852343 GRCh37: X:153762680-153762680
GRCh38: X:154534465-154534465
14 G6PD NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) SNV Pathogenic
968939 rs78365220 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
15 G6PD NM_000402.4(G6PD):c.1250G>A (p.Arg417His) SNV Pathogenic
10376 rs137852321 GRCh37: X:153760909-153760909
GRCh38: X:154532694-154532694
16 G6PD NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) SNV Pathogenic
449323 rs782090947 GRCh37: X:153764210-153764210
GRCh38: X:154535995-154535995
17 G6PD NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) SNV Pathogenic
10369 rs137852315 GRCh37: X:153764247-153764247
GRCh38: X:154536032-154536032
18 G6PD NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) SNV Pathogenic
10377 rs137852322 GRCh37: X:153760916-153760916
GRCh38: X:154532701-154532701
19 G6PD NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) SNV Pathogenic
10378 rs137852323 GRCh37: X:153760841-153760841
GRCh38: X:154532626-154532626
20 G6PD NM_000402.4(G6PD):c.1451G>A (p.Arg484His) SNV Pathogenic
10379 rs137852324 GRCh37: X:153760604-153760604
GRCh38: X:154532389-154532389
21 G6PD NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) SNV Pathogenic
10385 rs137852333 GRCh37: X:153761012-153761012
GRCh38: X:154532797-154532797
22 G6PD G6PD ZURICH SNV Pathogenic
10420 rs2070350038 GRCh37:
GRCh38:
23 G6PD NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) SNV Pathogenic
986140 rs137852329 GRCh37: X:153760980-153760980
GRCh38: X:154532765-154532765
24 G6PD NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) SNV Pathogenic
987108 rs1557229683 GRCh37: X:153760882-153760882
GRCh38: X:154532667-154532667
25 G6PD NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala) SNV Pathogenic
1163784 GRCh37: X:153760883-153760883
GRCh38: X:154532668-154532668
26 G6PD NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) SNV Pathogenic
1198343 GRCh37: X:153760604-153760604
GRCh38: X:154532389-154532389
27 G6PD NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer) DEL Pathogenic
1722644 GRCh37: X:153761326-153761326
GRCh38: X:154533111-154533111
28 G6PD NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs) INSERT Pathogenic
1722645 GRCh37: X:153760284-153760285
GRCh38: X:154532069-154532070
29 G6PD NM_001042351.1:c.1054_1055insG INSERT Pathogenic
1722646 GRCh37:
GRCh38:
30 G6PD NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser) SNV Pathogenic
1722647 GRCh37: X:153761292-153761292
GRCh38: X:154533077-154533077
31 G6PD NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter) DUP Pathogenic
1722648 GRCh37: X:153760785-153760786
GRCh38: X:154532570-154532571
32 G6PD NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr) SNV Pathogenic
1722650 GRCh37: X:153764384-153764384
GRCh38: X:154536169-154536169
33 G6PD NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys) SNV Pathogenic
1722652 GRCh37: X:153764178-153764178
GRCh38: X:154535963-154535963
34 G6PD NM_001360016.2(G6PD):c.283_285del (p.Lys95del) DEL Pathogenic
1722653 GRCh37: X:153763583-153763585
GRCh38: X:154535368-154535370
35 G6PD NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu) SNV Pathogenic
1722656 GRCh37: X:153762678-153762678
GRCh38: X:154534463-154534463
36 G6PD NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn) SNV Pathogenic
1722657 GRCh37: X:153762661-153762661
GRCh38: X:154534446-154534446
37 G6PD NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del) MICROSAT Pathogenic
1722658 GRCh37: X:153762630-153762632
GRCh38: X:154534415-154534417
38 G6PD NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp) SNV Pathogenic
1722659 GRCh37: X:153762341-153762341
GRCh38: X:154534126-154534126
39 G6PD NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg) SNV Pathogenic
1722661 GRCh37: X:153762307-153762307
GRCh38: X:154534092-154534092
40 G6PD NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln) SNV Pathogenic
1722662 GRCh37: X:153762250-153762250
GRCh38: X:154534035-154534035
41 G6PD NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu) SNV Pathogenic
1722663 GRCh37: X:153761828-153761828
GRCh38: X:154533613-154533613
42 G6PD NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly) SNV Pathogenic
1722664 GRCh37: X:153761807-153761807
GRCh38: X:154533592-154533592
43 G6PD NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del) MICROSAT Pathogenic
1722665 GRCh37: X:153761206-153761208
GRCh38: X:154532991-154532993
44 G6PD NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser) SNV Pathogenic
1722667 GRCh37: X:153760951-153760951
GRCh38: X:154532736-154532736
45 G6PD NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val) SNV Pathogenic
1722668 GRCh37: X:153760931-153760931
GRCh38: X:154532716-154532716
46 G6PD NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr) SNV Pathogenic
1722669 GRCh37: X:153760930-153760930
GRCh38: X:154532715-154532715
47 G6PD NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly) SNV Pathogenic
1722670 GRCh37: X:153760916-153760916
GRCh38: X:154532701-154532701
48 G6PD NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp) SNV Pathogenic
1722671 GRCh37: X:153760914-153760914
GRCh38: X:154532699-154532699
49 G6PD NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly) SNV Pathogenic
1722672 GRCh37: X:153760892-153760892
GRCh38: X:154532677-154532677
50 G6PD NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter) SNV Pathogenic
1722673 GRCh37: X:153760886-153760886
GRCh38: X:154532671-154532671

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 UGT1A8 UGT1A1 SLCO1B1 PRODH PKLR PGD
2
Show member pathways
12.23 UGT1A8 UGT1A1 SLCO1B1 SLC22A7 CYP2D6 ALB
3
Show member pathways
11.85 UGT1A1 SLCO1B1 SLC22A7 CYP2D6
4
Show member pathways
11.69 UGT1A1 SLCO1B1 ALB
5 11.59 UGT1A8 UGT1A1 PGD HBB G6PD CYP2D6
6
Show member pathways
11.53 HP HBB ALB
7
Show member pathways
11.12 CYP2D6 UGT1A1 UGT1A8
8
Show member pathways
10.96 UGT1A1 SLCO1B1 CYP2D6
9 10.82 UGT1A8 UGT1A1
10
Show member pathways
10.28 PGD H6PD 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 9.85 HP HBG2 HBE1 HBB ALB
2 hemoglobin complex GO:0005833 9.43 HBG2 HBE1 HBB
3 haptoglobin-hemoglobin complex GO:0031838 9.23 HP HBG2 HBE1 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 xenobiotic metabolic process GO:0006805 10.08 UGT1A1 SLCO1B1 SLC22A7 CYP2D6
2 hydrogen peroxide catabolic process GO:0042744 9.91 HBG2 HBE1 HBB
3 heterocycle metabolic process GO:0046483 9.87 UGT1A1 CYP2D6
4 xenobiotic glucuronidation GO:0052697 9.85 UGT1A8 UGT1A1
5 oxygen transport GO:0015671 9.85 HBG2 HBE1 HBB
6 cellular oxidant detoxification GO:0098869 9.85 ALB HBB HBE1 HBG2 HP
7 coumarin metabolic process GO:0009804 9.84 UGT1A8 CYP2D6
8 flavone metabolic process GO:0051552 9.81 UGT1A1 UGT1A8
9 flavonoid glucuronidation GO:0052696 9.8 UGT1A1 UGT1A8
10 carbon dioxide transport GO:0015670 9.8 HBG2 HBE1 HBB
11 negative regulation of steroid metabolic process GO:0045939 9.76 UGT1A8 UGT1A1
12 pentose biosynthetic process GO:0019322 9.71 G6PD PGD
13 negative regulation of fatty acid metabolic process GO:0045922 9.7 UGT1A8 UGT1A1
14 pentose-phosphate shunt GO:0006098 9.65 PGD H6PD G6PD
15 prostaglandin transport GO:0015732 9.56 SLCO1B1 SLC22A7
16 pentose-phosphate shunt, oxidative branch GO:0009051 9.43 PGD H6PD G6PD
17 positive regulation of cell death GO:0010942 9.32 PRODH HP 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 heme binding GO:0020037 10.1 HBG2 HBE1 HBB CYP2D6
2 NADP binding GO:0050661 9.93 PGD H6PD G6PD
3 peroxidase activity GO:0004601 9.91 HBG2 HBE1 HBB
4 oxygen carrier activity GO:0005344 9.8 HBB HBE1 HBG2
5 hemoglobin binding GO:0030492 9.78 HP HBB
6 organic acid binding GO:0043177 9.73 HBG2 HBE1 HBB
7 glucose-6-phosphate dehydrogenase activity GO:0004345 9.67 H6PD G6PD
8 haptoglobin binding GO:0031720 9.63 HBG2 HBE1 HBB
9 oxygen binding GO:0019825 9.56 HBG2 HBE1 HBB ALB
10 oxidoreductase activity, acting on CH-OH group of donors GO:0016614 9.4 H6PD G6PD
11 hemoglobin alpha binding GO:0031721 9.1 HBG2 HBE1 HBB

Sources for Glucosephosphate Dehydrogenase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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