GSS gene related symptoms and diseases
All the information presented here about the GSS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GSS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Aciduria | Very Common - Between 80% and 100% cases |
| Hemolytic anemia | Very Common - Between 80% and 100% cases |
| Anemia | Very Common - Between 80% and 100% cases |
| Glutathione synthetase deficiency | Very Common - Between 80% and 100% cases |
| Spastic tetraparesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GSS gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pigmentary retinopathy
- Intention tremor
- Tetraparesis
- Progressive neurologic deterioration
- Recurrent bacterial infections
- Intellectual disability
- Renal tubular acidosis
- Sepsis
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GSS gene
Here you will find a list of rare diseases related to the GSS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA
Alternate names
GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria, pyroglutamic aciduria
Description
Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).
Most common symptoms of GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Spasticity
More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA
GLUTATHIONE SYNTHETASE DEFICIENCY WITHOUT 5-OXOPROLINURIA
Description
Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (OMIM ).
Most common symptoms of GLUTATHIONE SYNTHETASE DEFICIENCY WITHOUT 5-OXOPROLINURIA
- Anemia
- Abnormality of the nervous system
- Hemolytic anemia
- Aciduria
- Nonspherocytic hemolytic anemia
More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITHOUT 5-OXOPROLINURIA
Search interest in GSS
Potential gene panels for GSS gene
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.
GSS 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 GSS gene.
More info about this panel United States.
GSS 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 GSS 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.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
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.
GSS. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GSS gene.
More info about this panel Spain.
Glutathione Synthetase Deficiency (sequence analysis of GSS gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GSS 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.
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GSS gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
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.
Glutathione synthetase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GSS gene.
More info about this panel Germany.
Single gene testing GSS Panel
Germany.
By CeGaT GmbH
This panel specifically test the GSS gene.
More info about this panel Germany.
GSS - Glutathione Synthetase Deficiency Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the GSS gene.
More info about this panel Sweden.
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.
GSS Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GSS gene.
More info about this panel Austria.
Invitae Organic Acidemias Panel Panel
United States.
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panel United States.
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.
Glutathione synthetase deficiency: GSS gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GSS gene.
More info about this panel Spain.
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.
Glutathione Synthetase Deficiency (GSS) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the GSS gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
GSS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GSS gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
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.
Glutathione synthetase deficiency Panel
Spain.
By Bioarray
This panel specifically test the GSS gene.
More info about this panel Spain.
GLUTATHIONE SYNTHETASE DEFIECIENCY WITH 5-OXOPROLINURIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GSS gene.
More info about this panel Spain.
Glutahione Synthetase Deficiency , Sequencing GSS Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GSS gene.
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BRCA2 NEB ARHGEF18 CPA1 TNXB IL17F TNNT1