ARG1 gene related symptoms and diseases
All the information presented here about the ARG1 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 ARG1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Athetosis | Very Common - Between 80% and 100% cases |
| Coma | Very Common - Between 80% and 100% cases |
| Tetraplegia | Very Common - Between 80% and 100% cases |
| Spastic tetraplegia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ARG1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anorexia
- Muscle stiffness
- Paraparesis
- Aminoaciduria
- Spastic paraparesis
- Cerebral palsy
- Tachypnea
- Hyperammonemia
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARG1 gene
Here you will find a list of rare diseases related to the ARG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ARGININEMIA
Alternate names
ARGININEMIA Is also known as arg1 deficiency, arginase deficiency, hyperargininemia
Description
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Most common symptoms of ARGININEMIA
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about ARGININEMIA
Search interest in ARG1
Potential gene panels for ARG1 gene
ARG1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARG1 gene.
More info about this panel United States.
ARG1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARG1 gene.
More info about this panel United States.
ARG1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARG1 gene.
More info about this panel United States.
ARG1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARG1 gene.
More info about this panel United States.
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.
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.
ARG1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ARG1 gene.
More info about this panel United States.
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
United States.
By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1
More info about this panel United States.
Arginase Deficiency Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ARG1 gene.
More info about this panel United Kingdom.
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.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel Netherlands.
ARG1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARG1 gene.
More info about this panel Spain.
Arginase deficiency (sequence analysis of ARG1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ARG1 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.
Argininemia via ARG1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ARG1 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.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
Ataxia Panel
Germany.
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panel Germany.
Episodic Ataxia and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Episodic Ataxia and Phenocopies that also includes the following genes: SLC1A3 SLC22A5 SLC25A15 SLC2A1 CACNA1A CACNA1C CACNB4 ABHD5 CPT2 DARS2
More info about this panel Germany.
Arginase deficiency / hyperargininemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ARG1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
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.
Metabolic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
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.
Arginase deficiency, ARG1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ARG1 gene.
More info about this panel United States.
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 Elevated Arginine Test Panel
United States.
By Invitae
This panel specifically test the ARG1 gene.
More info about this panel United States.
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 Arginase Deficiency Test Panel
United States.
By Invitae
This panel specifically test the ARG1 gene.
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.
Argininemia: ARG1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ARG1 gene.
More info about this panel Spain.
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.
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.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
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.
ARG1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARG1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
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.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
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.
Metabolic Epilepsy Panel Panel
Finland.
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Argininemia Panel
Spain.
By Bioarray
This panel specifically test the ARG1 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.
ARGINASE DEFICIENCY (ARGININEMIA) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ARG1 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.
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.
Argininemia (Arginase Deficiency): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ARG1 gene.
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.
Citrullinemia: gene sequencing panel (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia: gene sequencing panel (Rapid testing) that also includes the following genes: SLC25A13 ARG1 ASL ASS1
More info about this panel Canada.
Citrullinemia: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia: gene sequencing panel (RAPID testing) that also includes the following genes: SLC25A13 ARG1 ASL ASS1
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRXN3 FUCA1