NAGS gene related symptoms and diseases
All the information presented here about the NAGS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NAGS gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Aggressive behavior | Very Common - Between 80% and 100% cases |
| Acute encephalopathy | Very Common - Between 80% and 100% cases |
| Hyperammonemia | Very Common - Between 80% and 100% cases |
| Tachypnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NAGS gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Coma
- Confusion
- Lethargy
- Hypoglycemia
- Global developmental delay
- Encephalopathy
- Vomiting
- Respiratory distress
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NAGS gene
Here you will find a list of rare diseases related to the NAGS. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Alternate names
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY Is also known as hyperammonemia due to n-acetylglutamate synthetase deficiency, n-acetylglutamate synthetase deficiency, nags deficiency
Description
N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
Most common symptoms of HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
- Seizures
- Global developmental delay
- Failure to thrive
- Cognitive impairment
- Feeding difficulties
More info about HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Search interest in NAGS
Potential gene panels for NAGS 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 United States.
NAGS Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the NAGS gene.
More info about this panel United States.
NAGS Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the NAGS gene.
More info about this panel United States.
NAGS Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the NAGS gene.
More info about this panel United States.
NAGS Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the NAGS gene.
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Urea Cycle Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Urea Cycle Disorders that also includes the following genes: NAGS ARG1 ASL ASS1 OTC
More info about this panel United States.
Urea Cycle Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Urea Cycle Disease Panel that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 CA5A NAGS GLUD1 ARG1 ASL ASS1 OTC
More info about this panel Argentina.
NAGS Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the NAGS gene.
More info about this panel United States.
Hyperammonaemia/Urea cycle disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Hyperammonaemia/Urea cycle disorders that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 NAGS GLUD1 ARG1 ASL MMUT ASS1 OAT
More info about this panel United Kingdom.
N-acetylglutamate synthase deficiency (sequence analysis of NAGS gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NAGS gene.
More info about this panel Portugal.
Hyperammonemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2
More info about this panel United States.
Hyperammonemia via NAGS Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NAGS gene.
More info about this panel United States.
Urea Cycle Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Urea Cycle Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OAT OTC
More info about this panel United States.
N-acetylglutamate synthase deficiency (NAGS) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the NAGS gene.
More info about this panel Netherlands.
Urea cycle disorder panel Panel
Germany.
By Centogene AG - the Rare Disease Company Urea cycle disorder panel that also includes the following genes: NAGS ARG1 ASS1 OTC
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.
N-acetylglutamate synthase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NAGS gene.
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Urea Cycle Disorder Panel
Estonia.
By Asper Biogene Asper Biogene LLC Urea Cycle Disorder that also includes the following genes: SLC25A13 SLC25A15 SLC7A7 NAGS ARG1 ASL ASS1 OAT OTC
More info about this panel Estonia.
Invitae Urea Cycle Disorders Panel Panel
United States.
By Invitae Invitae Urea Cycle Disorders Panel that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OAT OTC ALDH18A1
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.
Invitae Low Citrulline Panel Panel
United States.
By Invitae Invitae Low Citrulline Panel that also includes the following genes: NAGS OTC
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
UREA CYCLE DISORDERS Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases UREA CYCLE DISORDERS that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panel Spain.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) Panel
Brazil.
By DLE - Diagnosticos Laboratoriais Especializados Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panel Brazil.
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.
NAGS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NAGS gene.
More info about this panel United States.
Hyperammonemia and Urea Cycle Disorder Panel Panel
Finland.
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NAGS gene.
More info about this panel Spain.
UREA CYCLE DISORDERS Panel
Spain.
By Laboratorio de Genetica Clinica SL UREA CYCLE DISORDERS that also includes the following genes: NAGS ARG1 ASL ASS1 OTC
More info about this panel Spain.
UREA CYCLE DISORDERS: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL UREA CYCLE DISORDERS: NGS PANEL that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panel Spain.
Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SLC25A13 SLC25A15 NAGS ARG1 ASL ASS1 OTC
More info about this panel Spain.
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