Glucosephosphate Dehydrogenase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:2862

MeSH ⁴³ D005955

NCIt ⁴⁹ C98933

SNOMED-CT ⁶⁸ 124134002

EFO ¹⁶ EFO_0007287

UMLS ⁷¹ C2939465

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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...

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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:

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Symptoms & Phenotypes for Glucosephosphate Dehydrogenase Deficiency

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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

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Genetic Tests for Glucosephosphate Dehydrogenase Deficiency

Genetic tests related to Glucosephosphate Dehydrogenase Deficiency:

#	Genetic test	Affiliating Genes
1	G6pd Deficiency ²⁸

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Anatomical Context for Glucosephosphate Dehydrogenase Deficiency

Organs/tissues related to Glucosephosphate Dehydrogenase Deficiency:

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

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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	Hue NT...Dunstan SJ	19589177	2009
2	Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China. ⁵³ ⁶² ⁵	Deng C...Yu JL	17587269	2007
3	Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. ⁵³ ⁶² ⁵	Barisic M...Terzic J	16143877	2005
4	Molecular basis of G6PD deficiency in India. ⁵³ ⁶² ⁵	Sukumar S...Mohanty D	15315792	2004
5	Molecular characterization of G6PD deficiency in Cyprus. ⁵³ ⁶² ⁵	Drousiotou A...Tishkoff SA	15223006	2004
6	Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase. ⁵³ ⁶² ⁵	van Wijk R...van Solinge WW	14757424	2004
7	G6PD Viangchan and G6PD Mediterranean are the main variants in G6PD deficiency in the Malay population of Malaysia. ⁵³ ⁶² ⁵	Yusoff NM...Matsuo M	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	Cai W...Kuang Y	11295127	2001
9	Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan. ⁵³ ⁶² ⁵	Chiang SH...Hsiao KJ	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	Calabro V...Battistuzzi G	2253938	1990
11	Acute Hemolytic Anemia Caused by G6PD Deficiency in Children in Mayotte: A Frequent and Severe Complication. ⁶² ⁵	Boyadjian M...Blonde R	34966093	2022
12	Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population. ⁶² ⁵	Thedsawad A...Hantaweepant C	35840819	2022
13	A case of G6PD Utrecht associated with β-thalassemia responding to splenectomy. ⁶² ⁵	Yang K...Xiao J	35695473	2022
14	Acquired glucose 6-phosphate dehydrogenase (G6PD) deficiency in a patient with Chronic Myelomonocytic Leukemia. ⁶² ⁵	Naville AS...Dulucq S	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	Pakparnich P...Boonyuen U	34934109	2021
16	G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome. ⁶² ⁵	Athanasiadou KI...Karagianni P	34643346	2021
17	Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population. ⁶² ⁵	Malik S...Al-Shafai M	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	Dechyotin S...Kitcharoen S	34007417	2021
19	Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population. ⁶² ⁵	Sanephonasa A...Leecharoenkiat K	33413378	2021
20	Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations. ⁶² ⁵	Devendra R...Mukherjee MB	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	He Y...Xu Y	33051526	2020
22	Glucose-6-phosphate dehydrogenase deficiency. ⁶² ⁵	Luzzatto L...Notaro R	32702756	2020
23	Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia. ⁶² ⁵	Chaves A...Feliu-Torres A	32387441	2020
24	A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency. ⁶² ⁵	Tong Y...Li Y	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	Praoparotai A...Boonyuen U	32387609	2020
26	Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants. ⁶² ⁵	Arunachalam AK...Edison ES	32425388	2020
27	Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation. ⁶² ⁵	Alina MF...Ainoon O	31863082	2020
28	Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017. ⁶² ⁵	Liu Z...Zou L	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	Bahr TM...Christensen RD	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	Kumar R...Shanmugam R	32180910	2020
31	G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population. ⁶² ⁵	Wisnumurti DA...Achmad TH	31862010	2019
32	Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants. ⁶² ⁵	Ohlsson A...von Dobeln U	33072997	2019
33	G6PD deficiency: An update. ⁶² ⁵	Harcke SJ...Harcke HT	31609781	2019
34	Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan. ⁶² ⁵	Chiu YH...Liu TT	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	Djigo OKM...Ould Mohamed Salem Boukhary A	31525211	2019
36	Molecular characterization and mapping of glucose-6-phosphate dehydrogenase (G6PD) mutations in the Greater Mekong Subregion. ⁶² ⁵	Bancone G...Nosten F	30674319	2019
37	The gene spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangdong province, China. ⁶² ⁵	Lin F...Yang LY	30077011	2018
38	Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population. ⁶² ⁵	Cortes-Morales YY...Gomez-Manzo S	30096395	2018
39	Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China. ⁶² ⁵	Zhong Z...Zhao P	30315739	2018
40	Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian. ⁶² ⁵	Chen Y...Zhu W	30045279	2018
41	Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution. ⁶² ⁵	Powers JL...Grenache DG	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	Canu G...Minucci A	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	Fu C...Fan X	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	Boonyuen U...Imwong M	28583873	2017
45	A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. ⁶² ⁵	Reading NS...Prchal JT	28195434	2017
46	Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency. ⁶² ⁵	Lee J...Cho B	28028996	2017
47	Expanding the clinical and genetic spectrum of G6PD deficiency: The occurrence of BCGitis and novel missense mutation. ⁶² ⁵	Khan TA...Iqbal A	27914961	2017
48	Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World. ⁶² ⁵	Doss CG...Zayed H	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	Reading NS...Prchal JT	27519946	2016
50	Rapid detection of G6PD mutations by multicolor melting curve analysis. ⁶² ⁵	Xia Z...Li Q	27495838	2016

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Genes for Glucosephosphate Dehydrogenase Deficiency

Genes related to Glucosephosphate Dehydrogenase Deficiency (4 elite genes):

(show all 44)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	445.23	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	5448 511159 669721 (more) 736032 835572 853376 903703 1008056 1270075 1303173 1303182 1459579 1536798 1551674 1562739 1611091 1805484 1924316 1945893 1978554 1978555 1999409 2253938 2263506 2307454 2321910 2393028 2503817 2572288 2602358 2836867 2849540 2912069 2912886 3198117 3201886 3338798 3360447 3393536 3591235 3740052 4359638 4379606 4388132 4392654 4435794 4721339 4838696 5081671 5305539 5316621 5369703 5492291 5641629 5673160 5844610 6015571 6344088 6698555 6714978 6714986 7106752 7129446 7160841 7291768 7327562 7390473 7440223 7577654 7590755 7655862 7789945 7803800 7806085 7825590 7849299 7858267 7947239 7947250 7959686 8118045 8141125 8193373 8241497 8244337 8370579 8447319 8471773 8477268 8490627 8537082 8611726 8807085 8807321 8807322 8956035 9017974 9192788 9233561 9250351 9290617 9298828 9332310 9410474 9589612 9674740 10221015 10502785 10571945 10643148 10734064 10772881 10782016 10916676 11024211 11042039 11243133 11261779 11271380 11400791 11499668 11601226 11793482 11852882 12064920 12130518 12215013 12367584 12497642 12850494 14505231 14757424 14757426 15223006 15315792 15349799 15466166 15502081 15625830 15727905 15906717 16079115 16088936 16119988 16136268 16143877 16155737 16193512 16329560 16356170 16461316 16513531 16528451 16607506 16753852 16777444 16927025 16944148 17018380 17233850 17524386 17587269 17726510 17959407 18043863 18046504 18086567 18226470 18270558 18329300 18568599 18677765 19422023 19589177 19594365 19632868 20052779 20200584 20203002 20236109 20582980 20602793 20621077 21063220 21153663 21302115 21441392 21446359 21479984 21507207 21637675 21677401 21874587 21931771 21989994 22018328 22139979 22164279 22165289 22171972 22293322 22452742 22552160 22770933 22906047 22906837 22963789 23006493 23057857 23144702 23479361 23926329 23965028 24022758 24134566 24460025 24505519 24586352 25201310 25440321 25536053 25541721 25548459 25775246 26060661 26226515 26275698 26633385 26693676 26823837 26827633 27040960 27053284 27213370 27519946 27535533 27853304 27880809 28028996 28195434 28583873 28756180 29072585 29333274 29339739 30045279 30077011 30096395 30097005 30315739 30674319 31294066 31489982 31525211 31609781 31862010 31863082 32180910 32387441 32387609 32425388 32680472 33051526 33069889 33072997 33413378 33636823 34620237 34934109 34966093 34989400 35695473 35840819 1353664 2005960 2157298 2190319 2222408 2758468 4125296 5413384 5779160 6433630 6500558 8813094 9444913 9452072 10556177 10627140 10666231 11112389 11295127 11594515 11780463 12064902 15065213 18066402 20085579 20949590 21397531 22237549 22963798 25071003 25141282 26479991 27408423 27495838 27914961 32987391 34007417 34643346 12971572 11903742 19789650 18582416 18385045 17525208 20520804 19995205 17669331 16868367 17364999 12654062 12581435 17355169 19112496 18680959 12902098 17889084 8648264 15738610 20118060 18817276 15906719 19370159 18823322 17699998 15279740 8090250 18177777 20376264 16780577 11400793 20051781 7617034 16295757 8987321 10648829 18290815 11345405 19739477 12910652 11400792 17877203 11484161 18485212 19223928 18159462 7815196 16527153 16572957 14978696 18164966 16909453 15645702 16737003 11919729 12934793 1283668 19224086 18573772 12729287 12476860 11920200 8903296 16971229 15117119 9424735 7883283 1323345 20426517 19695182 19494543 17264545 16792831 19546473 9360423 15117307 11317924 9887604 8861278 8533762 20423573 18567456 17992408 19675737 18547022 17965755 15882454 17966732 16204390
2	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	1945893 3198117 7803800 (more) 8244337 8471773 9589612 10502785 11601226 12064920 15727905 16329560 16607506 29339739 30045279 30315739 31489982 31863082 33051526 33072997 34989400 35840819 2005960 2758468 10627140 18046504 19589177 34620237
3	LOC107181288	Origin Of Replication In Promoter Of G6PD	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	34620237
4	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	400	Pathogenic ⁵
5	HP	Haptoglobin	Protein Coding	13.86	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16637741 8547103 10435877 (more) 18297891 7873396
6	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	13.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15965581 16237771 12439228 (more) 12680285 15319464 15864125
7	HBG2	Hemoglobin Subunit Gamma 2	Protein Coding	11.89	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9523930 19726375 1523481
8	SLCO1B1	Solute Carrier Organic Anion Transporter Family Member 1B1	Protein Coding	10.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15965581 15864125 15319464
9	PGD	Phosphogluconate Dehydrogenase	Protein Coding	9.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11233775
10	H6PD	Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase	Protein Coding	9.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19589177
11	SLC22A7	Solute Carrier Family 22 Member 7	Protein Coding	8.21	Novoseek inferred ⁵³	15319464
12	LY6G6D	Lymphocyte Antigen 6 Family Member G6D	Protein Coding	6.24	DISEASES inferred ¹⁴
13	PRODH	Proline Dehydrogenase 1	Protein Coding	6.18	DISEASES inferred ¹⁴ ¹⁴
14	HBE1	Hemoglobin Subunit Epsilon 1	Protein Coding	6.03	DISEASES inferred ¹⁴
15	CYP2D6	Cytochrome P450 Family 2 Subfamily D Member 6	Protein Coding	5.8	DISEASES inferred ¹⁴
16	HBB	Hemoglobin Subunit Beta	Protein Coding	5.69	DISEASES inferred ¹⁴
17	UGT1A8	UDP Glucuronosyltransferase Family 1 Member A8	Protein Coding	5.58	DISEASES inferred ¹⁴
18	PKLR	Pyruvate Kinase L/R	Protein Coding	5.49	DISEASES inferred ¹⁴
19	FREM3	FRAS1 Related Extracellular Matrix 3	Protein Coding	5.29	DISEASES inferred ¹⁴
20	ALB	Albumin	Protein Coding	5.16	DISEASES inferred ¹⁴
21	UGT1A6	UDP Glucuronosyltransferase Family 1 Member A6	Protein Coding	5.14	DISEASES inferred ¹⁴
22	AKR1C2	Aldo-Keto Reductase Family 1 Member C2	Protein Coding	5.09	DISEASES inferred ¹⁴
23	CRP	C-Reactive Protein	Protein Coding	5.07	DISEASES inferred ¹⁴
24	SLC4A1	Solute Carrier Family 4 Member 1 (Diego Blood Group)	Protein Coding	5	DISEASES inferred ¹⁴
25	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1	Protein Coding	4.98	DISEASES inferred ¹⁴
26	ACKR1	Atypical Chemokine Receptor 1 (Duffy Blood Group)	Protein Coding	4.96	DISEASES inferred ¹⁴
27	ACP1	Acid Phosphatase 1	Protein Coding	4.95	DISEASES inferred ¹⁴
28	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	4.95	DISEASES inferred ¹⁴
29	GSR	Glutathione-Disulfide Reductase	Protein Coding	4.94	DISEASES inferred ¹⁴
30	FAM234A	Family With Sequence Similarity 234 Member A	Protein Coding	4.9	DISEASES inferred ¹⁴
31	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	4.88	DISEASES inferred ¹⁴
32	TNF	Tumor Necrosis Factor	Protein Coding	4.88	DISEASES inferred ¹⁴
33	TLDC2	TBC/LysM-Associated Domain Containing 2	Protein Coding	4.83	DISEASES inferred ¹⁴
34	RHCE	Rh Blood Group CcEe Antigens	Protein Coding	4.82	DISEASES inferred ¹⁴
35	LCT	Lactase	Protein Coding	4.79	DISEASES inferred ¹⁴
36	PPIG	Peptidylprolyl Isomerase G	Protein Coding	4.78	DISEASES inferred ¹⁴
37	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	4.71	DISEASES inferred ¹⁴
38	INS	Insulin	Protein Coding	4.7	DISEASES inferred ¹⁴
39	FYB1	FYN Binding Protein 1	Protein Coding	4.68	DISEASES inferred ¹⁴
40	SPTA1	Spectrin Alpha, Erythrocytic 1	Protein Coding	4.68	DISEASES inferred ¹⁴
41	IL6	Interleukin 6	Protein Coding	4.66	DISEASES inferred ¹⁴
42	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	4.66	DISEASES inferred ¹⁴
43	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	4.66	DISEASES inferred ¹⁴
44	SLC23A2	Solute Carrier Family 23 Member 2	Protein Coding	4.63	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Glucosephosphate Dehydrogenase Deficiency

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

Sources

Pathways for Glucosephosphate Dehydrogenase Deficiency

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.54	UGT1A8 UGT1A1 SLCO1B1 PRODH PKLR PGD
2	Drug ADME ⁶⁶ Show member pathways Abacavir ADME ⁶⁶ Abacavir metabolism ⁶⁶ Abacavir transmembrane transport ⁶⁶ Aspirin ADME ⁶⁶ Atorvastatin ADME ⁶⁶ Atorvastatin Pathway, Pharmacokinetics ⁶⁰ Carvedilol Pathway, Pharmacokinetics ⁶⁰ Ciprofloxacin ADME ⁶⁶ Codeine and morphine metabolism ⁷⁴ Codeine and Morphine Pathway, Pharmacokinetics ⁶⁰ Defective PGM1 causes PGM1-CDG ⁶⁶ Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) ⁶⁶ Defective SLC35D1 causes SCHBCKD ⁶⁶ Dolutegravir Pathway, Pharmacokinetics ⁶⁰ Formation of the active cofactor, UDP-glucuronate ⁶⁶ Glucuronidation ⁶⁶ Glucuronidation ⁷⁴ Hydrocodone pathway, pharmacokinetics ⁶⁰ Irinotecan Pathway, Pharmacodynamics ⁶⁰ Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Pitavastatin Pathway, Pharmacokinetics ⁶⁰ Prednisone ADME ⁶⁶ Reactome/PharmGKB collaboration: Prednisone and Prednisolone Pathway, Pharmacokinetics ⁶⁰ Reactome/PharmGKB collaboration: Ribavirin Pathway, Pharmacokinetics ⁶⁰ Ribavirin ADME ⁶⁶ UDP-a-D-glucose biosynthesis I ⁶¹	12.23	UGT1A8 UGT1A1 SLCO1B1 SLC22A7 CYP2D6 ALB
3	Statin Pathway - Generalized, Pharmacokinetics ⁶⁰ Show member pathways Anti-diabetic Drug Nateglinide Pathway, Pharmacokinetics ⁶⁰ Anti-diabetic Drug Repaglinide Pathway, Pharmacokinetics ⁶⁰ Clobazam Pathway, Pharmacokinetics ⁶⁰ Defective ABCB11 causes PFIC2 and BRIC2 ⁶⁶ Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) ⁶⁶ Diclofenac metabolic pathway ⁷⁴ Diclofenac Pathway, Pharmacokinetics ⁶⁰ Fluvastatin Pathway, Pharmacokinetics ⁶⁰ Ibuprofen Pathway, Pharmacokinetics ⁶⁰ Irinotecan pathway ⁷⁴ Irinotecan Pathway, Pharmacokinetics ⁶⁰ Paclitaxel Pathway, Pharmacokinetics ⁶⁰ Pravastatin Pathway, Pharmacokinetics ⁶⁰ Rosiglitazone Pathway, Pharmacokinetics ⁶⁰ Rosuvastatin Pathway, Pharmacokinetics ⁶⁰ Simvastatin Pathway, Pharmacokinetics ⁶⁰ Ticagrelor Pathway, Pharmacokinetics ⁶⁰	11.85	UGT1A1 SLCO1B1 SLC22A7 CYP2D6
4	heme biosynthesis ⁶⁶ ⁷⁴ ⁶¹ Show member pathways Defective UGT1A4 causes hyperbilirubinemia ⁶⁶ heme a biosynthesis ⁶¹ heme b biosynthesis I (aerobic) ⁶¹ heme biosynthesis from uroporphyrinogen-III I ⁶¹ Heme degradation ⁶⁶ heme degradation I ⁶¹ Hemesynthesis defects and porphyrias ⁷⁴ Metabolism of porphyrins ⁶⁶ superpathway of b heme biosynthesis from glycine ⁶¹ tetrapyrrole biosynthesis ⁶¹ tetrapyrrole biosynthesis II (from glycine) ⁶¹	11.69	UGT1A1 SLCO1B1 ALB
5	Glucose / Energy Metabolism ³	11.59	UGT1A8 UGT1A1 PGD HBB G6PD CYP2D6
6	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.53	HP HBB ALB
7	Tamoxifen metabolism ⁷⁴ Show member pathways Phenytoin Pathway, Pharmacokinetics ⁶⁰	11.12	CYP2D6 UGT1A1 UGT1A8
8	Pazopanib Pathway, Pharmacokinetics ⁶⁰ Show member pathways Sunitinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.96	UGT1A1 SLCO1B1 CYP2D6
9	2-Naphthylamine and 2-Nitronaphtalene metabolism ²²	10.82	UGT1A8 UGT1A1
10	Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics ⁶⁰ Show member pathways GDP-mannose biosynthesis ⁶¹ pentose phosphate pathway (oxidative branch) ⁶¹ pentose phosphate pathway (oxidative branch) I ⁶¹	10.28	PGD H6PD G6PD

Sources

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

Sources for Glucosephosphate Dehydrogenase Deficiency

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: GLC009 MIFTS: 54	Glucosephosphate Dehydrogenase Deficiency Categories: Genetic diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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