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
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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


Potential gene panels for GPX1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

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 panel

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

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

GPX1 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 GPX1 gene.

More info about this panel

GPX1 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 GPX1 gene.

More info about this panel

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

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

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

Glutathione peroxidase deficiency (sequence analysis of GPX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GPX1 gene.

More info about this panel

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

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

GPX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPX1 gene.

More info about this panel


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