G6PD gene related symptoms and diseases
All the information presented here about the G6PD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to G6PD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Fever | Common - Between 50% and 80% cases |
| Anemia | Common - Between 50% and 80% cases |
| Myalgia | Common - Between 50% and 80% cases |
| Hyperbilirubinemia | Common - Between 50% and 80% cases |
| Cognitive impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with G6PD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Prolonged neonatal jaundice
- Lymphoma
- Abnormality of the cardiovascular system
- Meningitis
- Back pain
- Leukocytosis
- Osteomyelitis
- Reticulocytosis
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to G6PD gene
Here you will find a list of rare diseases related to the G6PD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MALARIA
Description
Malaria is a preventable life-threatening parasitic disease caused by Plasmodium (P. ) parasites that are transmitted by Anophles mosquito bites to humans and is typically clinically characterized by attacks of fever, headache, chills and vomiting.
Most common symptoms of MALARIA
- Cognitive impairment
- Anemia
- Fever
- Respiratory distress
- Headache
More info about MALARIA
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Alternate names
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to
Description
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. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. 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. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. 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).
Most common symptoms of ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
- Intellectual disability
- Neoplasm
- Muscle weakness
- Pain
- Anemia
More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
SOURCES: OMIM
CLASS I GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Alternate names
CLASS I GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY Is also known as severe hemolytic anemia due to g6pd deficiency, class i g6pd deficiency
More info about CLASS I GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
SOURCES: ORPHANET
Search interest in G6PD
Potential gene panels for G6PD gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
G6PD Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the G6PD gene.
More info about this panel United States.
G6PD Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the G6PD gene.
More info about this panel United States.
Hemolytic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
Red Blood Cell Enzymopathies Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Enzymopathies Deletion/Duplication Panel that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel United States.
Hereditary Hemolytic Anemia Panel, Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Hemolytic Anemia Panel, Sequencing that also includes the following genes: SLCO1B1 SLCO1B3 SPTA1 SPTB TPI1 UGT1A1 UGT1A6 UGT1A7 NT5C3A ADA
More info about this panel United States.
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the G6PD gene.
More info about this panel United States.
Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the G6PD gene.
More info about this panel United States.
G6PD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the G6PD gene.
More info about this panel Spain.
Glucose-6-Phosphate Dehydrogenase Deficiency (sequence analysis of G6PD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the G6PD gene.
More info about this panel Portugal.
RBC Enzymopathies (NGS panel of 14 genes) Panel
Portugal.
By CGC Genetics RBC Enzymopathies (NGS panel of 14 genes) that also includes the following genes: TPI1 NT5C3A AK1 G6PD ALDOA GCLC GPI GPX1 GSS HK1
More info about this panel Portugal.
Glucose-6-Phosphate Dehydrogenase Deficiency via G6PD Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the G6PD gene.
More info about this panel United States.
Glucose-6-Phosphate Dehydrogenase Deficiency Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the G6PD gene.
More info about this panel Germany.
G6PD deficiency Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the G6PD gene.
More info about this panel Germany.
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the G6PD gene.
More info about this panel Netherlands.
G6PD Deficiency Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the G6PD gene.
More info about this panel India.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Glucose-6-phosphate dehydrogenase deficiency with nonspherocytic hemolytic anemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the G6PD gene.
More info about this panel Germany.
Pharmacogenetic panel Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19
More info about this panel Germany.
Glucose-6-phosphate dehydrogenase deficiency Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the G6PD gene.
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
G6PD deficiency Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the G6PD gene.
More info about this panel India.
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panel Spain.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test Panel
United States.
By Invitae
This panel specifically test the G6PD gene.
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Glucose 6-phosphate dehydrogenase, Deficiency: G6PD gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the G6PD gene.
More info about this panel Spain.
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: G6PD Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the G6PD gene.
More info about this panel United States.
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: G6PD Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the G6PD gene.
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
G6PD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the G6PD gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Chronic Granulomatous Disease Panel Panel
Finland.
By Blueprint Genetics Chronic Granulomatous Disease Panel that also includes the following genes: CYBA CYBB G6PD NOD2 NCF1 NCF2 NCF4
More info about this panel Finland.
Glucose-6-phosphate-dehydrogenase deficiency Panel
Spain.
By Bioarray
This panel specifically test the G6PD gene.
More info about this panel Spain.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the G6PD gene.
More info about this panel Spain.
Glucose 6-Phosphate Dehydrogenase Deficiency , Sequencing G6PD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the G6PD gene.
More info about this panel Spain.
PharmacoScan Panel
United States.
By RPRD Diagnostics, LLC RPRD Diagnostics, LLC PharmacoScan that also includes the following genes: SLCO1B1 TPMT UGT1A1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 DPYD
More info about this panel United States.
Glimepiride response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Glyburide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Glipizide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Chlorpropamide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Tolbutamide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Chlorpropamide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Glyburide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Glimepiride response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Glipizide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Tolbutamide response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the G6PD gene.
More info about this panel India.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel Canada.
Favism (Glucose-6-phosphate dehydrogenase deficiency): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the G6PD gene.
More info about this panel Canada.
Hemolytic anemia due to G6PD deficiency: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the G6PD gene.
More info about this panel Canada.
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