MCID: HML006
MIFTS: 34

Hemolytic Anemia Due to G6pd Deficiency

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia Due to G6pd Deficiency

MalaCards integrated aliases for Hemolytic Anemia Due to G6pd Deficiency:

Name: Hemolytic Anemia Due to G6pd Deficiency 54 13
Anemia, Non-Spherocytic Hemolytic, Due to G6pd Deficiency 71
Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 29
Class I Glucose-6-Phosphate Dehydrogenase Deficiency 56
Severe Hemolytic Anemia Due to G6pd Deficiency 56
Class I G6pd Deficiency 56
Nsha 71

Characteristics:

OMIM:

54
Inheritance:
x-linked recessive


Classifications:



External Ids:

OMIM 54 300908
Orphanet 56 ORPHA466026
MeSH 42 D000746
SNOMED-CT via HPO 65 46049004 387712008 7752002

Summaries for Hemolytic Anemia Due to G6pd Deficiency

OMIM : 54
G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans (see 134700). Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most G6PD-deficient patients are asymptomatic throughout their life. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). (300908)

MalaCards based summary : Hemolytic Anemia Due to G6pd Deficiency, also known as anemia, non-spherocytic hemolytic, due to g6pd deficiency, is related to glucosephosphate dehydrogenase deficiency and hemolytic anemia due to hexokinase deficiency, and has symptoms including reticulocytosis, unconjugated hyperbilirubinemia and prolonged neonatal jaundice. An important gene associated with Hemolytic Anemia Due to G6pd Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase). The drugs Primaquine and Artesunate have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and skin.

UniProtKB/Swiss-Prot : 71 Anemia, non-spherocytic hemolytic, due to G6PD deficiency: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life.

Related Diseases for Hemolytic Anemia Due to G6pd Deficiency

Diseases related to Hemolytic Anemia Due to G6pd Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 11.2
2 hemolytic anemia due to hexokinase deficiency 11.0
3 hemolytic anemia 10.0

Symptoms & Phenotypes for Hemolytic Anemia Due to G6pd Deficiency

Clinical features from OMIM:

300908

Human phenotypes related to Hemolytic Anemia Due to G6pd Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 reticulocytosis 32 HP:0001923
2 unconjugated hyperbilirubinemia 32 HP:0008282
3 prolonged neonatal jaundice 32 HP:0006579
4 fava bean-induced hemolytic anemia 32 HP:0004814

Drugs & Therapeutics for Hemolytic Anemia Due to G6pd Deficiency

Drugs for Hemolytic Anemia Due to G6pd Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Primaquine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-34-6 4908
2
Artesunate Approved Phase 4,Phase 3,Phase 1,Phase 2 88495-63-0 6917864 5464098
3
chloroquine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54-05-7 2719
4
Dapsone Approved, Investigational Phase 4,Phase 3 80-08-0 2955
5
Artemether Approved Phase 4,Phase 2,Phase 3 71963-77-4 119380 68911
6
Lumefantrine Approved Phase 4,Phase 2,Phase 3 82186-77-4 6437380
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 22916-47-8 4189
8
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
9
Sulfadoxine Approved Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
10
Mefloquine Approved Phase 4,Phase 3,Phase 1,Phase 2 53230-10-7 4046
11
Permethrin Approved, Investigational Phase 4 52645-53-1 40326
12
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
13
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
14
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2 58-05-9 143 6006
15 Antioxidants Phase 4
16
Bilirubin Phase 4 635-65-4 5280352
17 Pharmaceutical Solutions Phase 4,Phase 2
18 Protective Agents Phase 4
19 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
20 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1
21 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1
22 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Liver Extracts Phase 4
24 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
25 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
26 Anthelmintics Phase 4,Phase 2,Phase 3,Phase 1
27 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
29 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Chloroquine diphosphate Phase 4,Phase 3,Phase 2,Phase 1 50-63-5
31 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Anti-Bacterial Agents Phase 4,Phase 3
33 Folic Acid Antagonists Phase 4,Phase 3,Phase 1,Phase 2
34 Vitamin B Complex Phase 4,Phase 3,Phase 1,Phase 2
35 Artemisinine Phase 4,Phase 2,Phase 3,Phase 1
36 Artemisinins Phase 4,Phase 2,Phase 3,Phase 1
37
Dihydroartemisinin Phase 4,Phase 3,Phase 2,Phase 1 71939-50-9 6918483
38
Piperaquine Phase 4,Phase 3,Phase 2,Phase 1 4085-31-8 5079497
39 Antifungal Agents Phase 4,Phase 2,Phase 3
40 Artemether-lumefantrine combination Phase 4,Phase 2,Phase 3
41 Renal Agents Phase 4,Phase 3,Phase 1,Phase 2
42 Cholagogues and Choleretics Phase 4
43 Gastrointestinal Agents Phase 4
44 N-Methylaspartate Phase 4
45 Folate Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
46 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2
47 alanine Nutraceutical Phase 4
48 Aspartic Acid Nutraceutical Phase 4
49
Proguanil Approved Phase 3,Phase 1,Phase 2 500-92-5 4923
50
Amodiaquine Approved Phase 3,Phase 1,Phase 2 86-42-0 2165

Interventional clinical trials:

(show top 50) (show all 70)

id Name Status NCT ID Phase Drugs
1 Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
2 Investigation of Short Course, High Dose Primaquine Treatment for Liver Stages of Plasmodium Vivax Infection Unknown status NCT02364583 Phase 4 Primaquine
3 Comparison of Two Antimalarial Drugs Regimens in Patient With Plasmodium Vivax Malaria in Thailand Unknown status NCT01662700 Phase 4 Artesunate;Chloroquine
4 Estimating the Risk of Plasmodium Vivax Relapses in Afghanistan Unknown status NCT01178021 Phase 4 Chloroquine;Chloroquine/Primaquine
5 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle
6 Safety and Tolerability of Low Dose Primaquine Completed NCT02434952 Phase 4 Dihydroartemisinin piperaquine (DHA PP);Primaquine
7 A Study to Assess Safety of Current Standard Malaria Treatment and an Assessment of G6PD Status in South-east Bangladesh Completed NCT02389374 Phase 4 chloroquine;Artemether-lumefantrine combination;Primaquine;Primaquine
8 A Study to Assess Current Standard Malaria Treatment Guidelines in the Republic of the Sudan Completed NCT02592408 Phase 4 ASP;SDPQ;14DPQ;14DPQ on Day 42
9 Efficacy and Safety of a Single Low-dose Primaquine for the Clearance of Gametocytes Completed NCT02090036 Phase 4 Primaquine (For artemether-lumefantrine+primaquine arm);Placebo (For artemether-lumefantrine arm)
10 Pharmacokinetic and Pharmacodynamic Study of Mefloquine and Dihydroartemisinin-Piperaquine in Healthy Subjects Completed NCT02324738 Phase 4 Mefloquine and Dihydroartemisinin-piperaquine;Mefloquine
11 Effect of Liver and Blood-stage Treatment on Subsequent Plasmodium Reinfection and Morbidity Completed NCT02143934 Phase 4 Primaquine;Placebo;Chloroquine;Artemether Lumefantrine
12 Ethiopia Antimalarial in Vivo Efficacy Study 2012 Completed NCT01680406 Phase 4 Artemether-lumefantrine combination;Primaquine;Chloroquine
13 Malaria Elimination Pilot Study in Military Forces in Cambodia Recruiting NCT02653898 Phase 4 DHA-PIP;Primaquine;Artesunate + Mefloquine;Permethrin (Insecticide treated uniform)
14 G6PD Assessment Before Primaquine for Radical Treatment of Vivax Malaria Not yet recruiting NCT02876549 Phase 4 Chloroquine;Primaquine 0.25 mg/kg/day;Primaquine 0.75 mg/kg weekly
15 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
16 A Trial on Supervised Primaquine Use in Ethiopia Withdrawn NCT02793388 Phase 4 Supervised primaquine treatment;Unsupervised primaquine treatment
17 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
18 Safety of Primaquine + Artemether-lumefantrine in G6PD Deficient Males With an Asymptomatic Malaria Infection (SAFEPRIM) Completed NCT02174900 Phase 2, Phase 3 Artemether-Lumefantrine (AL) + 0.25 mg/kg primaquine;Artemether-Lumefantrine (AL) combination;Artemether-Lumefantrine (AL) + 0.4 mg/kg primaquine
19 Study to Assess the Incidence of Hemolysis, Safety, and Efficacy of Tafenoquine (SB-252263, WR238605) Versus Primaquine in Subjects With Plasmodium Vivax Malaria Completed NCT02216123 Phase 3 Tafenoquine;Tafenoquine Placebo;Chloroquine;Primaquine;Primaquine Placebo
20 Lapdap and Coartemether for Uncomplicated Malaria Completed NCT00118794 Phase 3 Chlorproguanil-dapsone (Lapdap);Lumefantrine-artemether (Coartemether )
21 Low Dose Primaquine for Clearance of Gametocytes Completed NCT01935882 Phase 2, Phase 3 Artemether-lumefantrine combination;Artemether-Lumefantrine with a single dose of 0.25mg/kg primaquine;Artemether-Lumefantrine with a single dose of 0.4mg/kg primaquine
22 Eight Week Primaquine Regimen for the Treatment of Vivax Malaria Completed NCT00158587 Phase 3 primaquine
23 Dihydroartemisinin-piperaquine With Low Dose Primaquine to Reduce Malaria Transmission Completed NCT02259426 Phase 3 Dihydroartemisinin-piperaquine combination (Artekin);Primaquine
24 Study of ACTs Plus Primaquine for Uncomplicated Plasmodium Vivax Malaria Completed NCT01288820 Phase 3 Dihydroartemisinin/piperaquine + primaquine;Artesunate-amodiaquine + primaquine
25 Comparison Between 7 and 14 Day Primaquine Combined With Dihydroartemisinin-piperaquine or 3 Day Chloroquine Radical Cure of P. Vivax (BPD) Completed NCT01640574 Phase 3 Dihydroartemisinin-Piperaquine;Dihydroartemisinin-Piperaquine;Chloroquine;Chloroquine
26 P. Knowlesi Trial of Artesunate-mefloquine Versus Chloroquine Completed NCT01708876 Phase 3 Artesunate-mefloquine;Chloroquine;Primaquine
27 Chlorproguanil/Dapsone Compared With Chloroquine and SP for Vivax Malaria Completed NCT00158561 Phase 3 sulfadoxine-pyrimethamine and chlorproguanil-dapsone
28 Effect of Paracetamol on Renal Function in Plasmodium Knowlesi Malaria Recruiting NCT03056391 Phase 3 Paracetamol
29 Efficacy and Safety Study of Tafenoquine (TQ) Co-administered With Dihydroartemisinin-piperaquine (DHA-PQP) for the Radical Cure of Plasmodium Vivax (P. Vivax) Malaria Not yet recruiting NCT02802501 Phase 3 Tafenoquine;Matched-Placebo for Tafenoquine;Primaquine;Matched-Placebo for Primaquine;Dihydroartemisinin-piperaquine (DHA-PQP);ACT plus PQ (Rescue medication);PQ (End of study treatment)
30 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
31 Determining a Tolerable Dose of Primaquine in G6PD-deficient Persons Without Malaria in Mali Completed NCT02535767 Phase 1, Phase 2 Primaquine
32 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
33 Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates With Hyperbilirubinemia Completed NCT01887327 Phase 2 stannsoporfin;Placebo
34 Phase2a Primaquine Dose Escalation Study Completed NCT01743820 Phase 2 dihydroartemisinin-piperaquine;0.125 mg/kg Primaquine;0.5 mg/kg Primaquine;0.25 mg/kg Primaquine;0.0625 mg/kg Primaquine
35 Intermittent Preventive Treatment for Malaria in Patient With Sickle Cell Disease Completed NCT01319448 Phase 1, Phase 2 Proguanil;mefloquine plus artesunate;Sulfadoxine-pyrimethamine plus amodiaquine
36 Effects of Nitrite on Blood Vessel Dilation in Normal Volunteers Completed NCT00048477 Phase 2 L-NMMA and Sodium Nitrite
37 Rasburicase for Hyperuricemia Completed NCT00290992 Phase 2 rasburicase (SR29142)
38 Phase 2 Efficacy Study of Primaquine and Methylene Blue Completed NCT02831023 Phase 2 Sulphadoxine-pyrimethamine;0.25 mg/kg primaquine;Dihydroartemisinin-piperaquine;Methylene blue;Amodiaquine
39 DHEA in Synovial Sarcoma Patients Recruiting NCT02683148 Phase 1, Phase 2 DHEA
40 P.Vivax Treatment Trial Recruiting NCT02802813 Phase 1, Phase 2 Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ);Dihydroartemisinin-piperaquine (DP) + Primaquine (PQ) placebo
41 A Pharmacokinetics, Safety and Efficacy Study of Tafenoquine (TQ) in Pediatric Subjects With Plasmodium Vivax (P. Vivax) Malaria Recruiting NCT02563496 Phase 2 Tafenoquine;Chloroquine
42 Pharmacokinetic and in 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)
43 G6PD (Glucose-6-phosphate Dehydrogenase) Study to Evaluate Hemolysis Potential of TFQ (Tafenoquine) Completed NCT01205178 Phase 1 Chloroquine;Primaquine;Tafenoquine
44 Pharmacokinetic Study of Primaquine in Healthy Obese Thai Adult Subjects Completed NCT02789566 Phase 1 Primaquine
45 Primaquine Pharmacokinetics in Lactating Women and Their Infants Completed NCT01780753 Phase 1 Primaquine
46 Study on Newborn Babies With a Yellow Skin Color (Neonatal Jaundice Study) Unknown status NCT02361788
47 Comparing G6PD Tests Using Capillary Blood Versus Venous Blood Completed NCT02069236
48 Evaluation of Different G6PD Testing Platforms Completed NCT02104518
49 A Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine
50 Erythrocyte and Adipocyte G6PD Activity Levels in Obesity Completed NCT01322035

Search NIH Clinical Center for Hemolytic Anemia Due to G6pd Deficiency

Genetic Tests for Hemolytic Anemia Due to G6pd Deficiency

Genetic tests related to Hemolytic Anemia Due to G6pd Deficiency:

id Genetic test Affiliating Genes
1 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 29

Anatomical Context for Hemolytic Anemia Due to G6pd Deficiency

MalaCards organs/tissues related to Hemolytic Anemia Due to G6pd Deficiency:

39
Testes, Liver, Skin, Adipocyte, Kidney

Publications for Hemolytic Anemia Due to G6pd Deficiency

Articles related to Hemolytic Anemia Due to G6pd Deficiency:

id Title Authors Year
1
Hemolytic anemia due to G6PD deficiency and urate oxidase in a kidney-transplant patient. ( 2019023 )
1991

Variations for Hemolytic Anemia Due to G6pd Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia Due to G6pd Deficiency:

71 (show top 50) (show all 61)
id Symbol AA change Variation ID SNP ID
1 G6PD p.His32Arg VAR_002451 rs137852340
2 G6PD p.Ala44Gly VAR_002453 rs78478128
3 G6PD p.Ile48Thr VAR_002454 rs76645461
4 G6PD p.Asp58Asn VAR_002455 rs137852315
5 G6PD p.Val68Met VAR_002456 rs1050828
6 G6PD p.Tyr70His VAR_002457 rs137852349
7 G6PD p.Leu75Pro VAR_002458
8 G6PD p.Arg81His VAR_002459 rs782308266
9 G6PD p.Arg81Cys VAR_002460 rs138687036
10 G6PD p.Ser106Cys VAR_002461 rs267606835
11 G6PD p.Leu128Pro VAR_002463 rs78365220
12 G6PD p.Glu156Lys VAR_002465 rs137852313
13 G6PD p.Gly163Ser VAR_002466 rs137852314
14 G6PD p.Gly163Asp VAR_002467
15 G6PD p.Asn165Asp VAR_002468 rs137852331
16 G6PD p.Arg166His VAR_002469
17 G6PD p.Asp176Gly VAR_002470
18 G6PD p.Asp181Val VAR_002471 rs5030872
19 G6PD p.Arg182Trp VAR_002472 rs267606836
20 G6PD p.Ser188Phe VAR_002473 rs5030868
21 G6PD p.Arg198Cys VAR_002474 rs137852330
22 G6PD p.Arg198Pro VAR_002475 rs137852332
23 G6PD p.Met212Val VAR_002476 rs782754619
24 G6PD p.Val213Leu VAR_002477 rs137852326
25 G6PD p.Phe216Leu VAR_002478 rs137852319
26 G6PD p.Arg227Gln VAR_002479 rs137852328
27 G6PD p.Arg227Leu VAR_002480 rs137852328
28 G6PD p.Arg257Gly VAR_002482
29 G6PD p.Glu274Lys VAR_002483
30 G6PD p.Ser278Phe VAR_002484
31 G6PD p.Thr279Ser VAR_002485
32 G6PD p.Asp282His VAR_002486 rs137852318
33 G6PD p.Arg285His VAR_002487 rs74575103
34 G6PD p.Val291Met VAR_002488 rs137852327
35 G6PD p.Glu317Lys VAR_002489 rs137852339
36 G6PD p.Leu323Pro VAR_002490 rs76723693
37 G6PD p.Ala335Thr VAR_002491 rs5030869
38 G6PD p.Pro353Ser VAR_002493 rs137852333
39 G6PD p.Asn363Lys VAR_002494 rs137852329
40 G6PD p.Cys385Arg VAR_002495 rs137852322
41 G6PD p.Lys386Glu VAR_002496 rs137852320
42 G6PD p.Arg387His VAR_002497 rs137852321
43 G6PD p.Arg387Cys VAR_002498 rs137852334
44 G6PD p.Arg393His VAR_002499 rs137852316
45 G6PD p.Val394Leu VAR_002500 rs137852335
46 G6PD p.Pro396Leu VAR_002501
47 G6PD p.Glu398Lys VAR_002502 rs137852325
48 G6PD p.Gly410Cys VAR_002503 rs137852323
49 G6PD p.Gly410Asp VAR_002504 rs137852336
50 G6PD p.Glu416Lys VAR_002505

ClinVar genetic disease variations for Hemolytic Anemia Due to G6pd Deficiency:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
2 G6PD NM_000402.4(G6PD): c.1093G> A (p.Ala365Thr) single nucleotide variant Pathogenic rs5030869 GRCh37 Chromosome X, 153761205: 153761205
3 G6PD NM_000402.4(G6PD): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs137852314 GRCh37 Chromosome X, 153762710: 153762710
4 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
5 G6PD NM_000402.4(G6PD): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs137852316 GRCh37 Chromosome X, 153760891: 153760891
6 G6PD NM_000402.4(G6PD): c.1429G> A (p.Gly477Arg) single nucleotide variant Pathogenic rs137852317 GRCh37 Chromosome X, 153760626: 153760626
7 G6PD NM_000402.4(G6PD): c.934G> C (p.Asp312His) single nucleotide variant Pathogenic rs137852318 GRCh37 Chromosome X, 153761811: 153761811
8 G6PD NM_000402.4(G6PD): c.1246A> G (p.Lys416Glu) single nucleotide variant Pathogenic rs137852320 GRCh37 Chromosome X, 153760913: 153760913
9 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
10 G6PD NM_000402.4(G6PD): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387906468 GRCh37 Chromosome X, 153760967: 153760967
11 G6PD NM_000402.4(G6PD): c.632A> T (p.Asp211Val) single nucleotide variant Pathogenic rs5030872 GRCh37 Chromosome X, 153762655: 153762655
12 G6PD NM_000402.4(G6PD): c.727G> T (p.Val243Leu) single nucleotide variant Pathogenic rs137852326 GRCh37 Chromosome X, 153762560: 153762560
13 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
14 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240
15 G6PD NM_000402.4(G6PD): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs72554664 GRCh37 Chromosome X, 153760472: 153760472
16 G6PD NM_000402.4(G6PD): c.1179C> A (p.Asn393Lys) single nucleotide variant Pathogenic rs137852329 GRCh37 Chromosome X, 153760980: 153760980
17 G6PD NM_000402.4(G6PD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs137852331 GRCh37 Chromosome X, 153762704: 153762704
18 G6PD NM_000402.4(G6PD): c.683G> C (p.Arg228Pro) single nucleotide variant Pathogenic rs137852332 GRCh37 Chromosome X, 153762604: 153762604
19 G6PD NM_000402.4(G6PD): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs137852334 GRCh37 Chromosome X, 153760910: 153760910
20 G6PD NM_000402.4(G6PD): c.1270G> C (p.Val424Leu) single nucleotide variant Pathogenic rs137852335 GRCh37 Chromosome X, 153760889: 153760889
21 G6PD NM_000402.4(G6PD): c.1319G> A (p.Gly440Asp) single nucleotide variant Pathogenic rs137852336 GRCh37 Chromosome X, 153760840: 153760840
22 G6PD NM_000402.4(G6PD): c.1406G> C (p.Arg469Pro) single nucleotide variant Pathogenic rs137852337 GRCh37 Chromosome X, 153760649: 153760649
23 G6PD NM_000402.4(G6PD): c.193_195delATC (p.Ile66del) deletion Pathogenic rs137852338 GRCh37 Chromosome X, 153774266: 153774268
24 G6PD NM_000402.4(G6PD): c.896G> A (p.Cys299Tyr) single nucleotide variant Pathogenic rs137852346 GRCh37 Chromosome X, 153761849: 153761849
25 G6PD NM_000402.4(G6PD): c.1054T> C (p.Tyr352His) single nucleotide variant Pathogenic rs137852347 GRCh37 Chromosome X, 153761244: 153761244
26 G6PD G6PD AMSTERDAM deletion Pathogenic
27 G6PD NM_000402.4(G6PD): c.1466G> C (p.Arg489Pro) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
28 G6PD NM_000402.4(G6PD): c.1138G> C (p.Asp380His) single nucleotide variant Pathogenic rs34193178 GRCh37 Chromosome X, 153761160: 153761160
29 G6PD NM_000402.4(G6PD): c.1450C> T (p.Arg484Cys) single nucleotide variant Pathogenic rs398123546 GRCh37 Chromosome X, 153760605: 153760605
30 G6PD NM_000402.4(G6PD): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs78365220 GRCh37 Chromosome X, 153763485: 153763485
31 G6PD NM_000402.4(G6PD): c.188T> C (p.Ile63Thr) single nucleotide variant Pathogenic rs398123552 GRCh37 Chromosome X, 153774273: 153774273

Expression for Hemolytic Anemia Due to G6pd Deficiency

Search GEO for disease gene expression data for Hemolytic Anemia Due to G6pd Deficiency.

Pathways for Hemolytic Anemia Due to G6pd Deficiency

GO Terms for Hemolytic Anemia Due to G6pd Deficiency

Sources for Hemolytic Anemia Due to G6pd Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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