GPX1 gene related symptoms and diseases
All the information presented here about the GPX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GPX1 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Very Common - Between 80% and 100% cases |
Jaundice | Very Common - Between 80% and 100% cases |
Hemolytic anemia | Very Common - Between 80% and 100% cases |
Postural instability | Very Common - Between 80% and 100% cases |
Hyperbilirubinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GPX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Prolonged neonatal jaundice
- Neonatal hyperbilirubinemia
- Compensated hemolytic anemia
Rare diseases associated to GPX1 gene
Here you will find a list of rare diseases related to the GPX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
Description
Several documented cases of glutathione peroxidase (GPX1 ) deficiency in association with hemolytic anemia have been reported. However, Paglia (1989) stated: 'To date, no defects in glutathione peroxidase have been unequivocally incriminated in the pathogenesis of hemolytic syndromes, although several instances of partial deficiency have been reported in patients with anemias of unknown etiology. This association may be coincidental, since there is a broad range of ethnic variation in the erythrocyte enzyme' (Beutler and Matsumoto, 1975).
Most common symptoms of GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
- Anemia
- Jaundice
- Hemolytic anemia
- Postural instability
- Hyperbilirubinemia
More info about GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD
SOURCES: OMIM
Search interest in GPX1
Potential gene panels for GPX1 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelRed Blood Cell Enzymopathies Panel by Next Generation Sequencing (NGS) Panel
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 panelHemolytic Anemia Panel by next-generation sequencing (NGS) Panel
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 panelGPX1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GPX1 gene.
More info about this panelGPX1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GPX1 gene.
More info about this panelHemolytic Anemia Deletion/Duplication Panel Panel
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 panelRed Blood Cell Enzymopathies Deletion/Duplication Panel Panel
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 panelRBC Enzymopathies (NGS panel of 14 genes) Panel
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 panelGlutathione peroxidase deficiency (sequence analysis of GPX1 gene) Panel
By CGC Genetics
This panel specifically test the GPX1 gene.
More info about this panelNGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
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 panelNuclear-Mito NGS Panel Panel
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 panelGPX1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPX1 gene.
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