ASS1 gene related symptoms and diseases
All the information presented here about the ASS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Delusions | Uncommon - Between 30% and 50% cases |
| Hallucinations | Uncommon - Between 30% and 50% cases |
| Clonus | Uncommon - Between 30% and 50% cases |
| Cerebral palsy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ASS1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperammonemia
- Increased intracranial pressure
- Slurred speech
- Abnormality of the coagulation cascade
- Loss of consciousness
- Ankle clonus
- Insomnia
- Echolalia
And 39 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASS1 gene
Here you will find a list of rare diseases related to the ASS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CITRULLINEMIA, CLASSIC
Alternate names
CITRULLINEMIA, CLASSIC Is also known as ass deficiency, argininosuccinate synthetase deficiency, citrullinemia, type i, ctln1, citrullinuria
Most common symptoms of CITRULLINEMIA, CLASSIC
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about CITRULLINEMIA, CLASSIC
ACUTE NEONATAL CITRULLINEMIA TYPE I
Alternate names
ACUTE NEONATAL CITRULLINEMIA TYPE I Is also known as classic citrullinemia type 1, acute neonatal citrullinemia type 1, classic citrullinemia type i
Description
Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 (see this term) characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
More info about ACUTE NEONATAL CITRULLINEMIA TYPE I
SOURCES: ORPHANET
ADULT-ONSET CITRULLINEMIA TYPE I
Alternate names
ADULT-ONSET CITRULLINEMIA TYPE I Is also known as adult-onset citrullinemia type 1, late-onset citrullinemia type i, late-onset citrullinemia type 1
Description
Adult-onset citrullinemia type I is a form of citrullinemia type I (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
More info about ADULT-ONSET CITRULLINEMIA TYPE I
SOURCES: ORPHANET
Search interest in ASS1
Potential gene panels for ASS1 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.
ASS1 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ASS1 gene.
More info about this panel United States.
ASS1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ASS1 gene.
More info about this panel United States.
ASS1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the ASS1 gene.
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Citrullinemia, Type 1 Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the ASS1 gene.
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.
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.
Citrullinemia Type I Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the ASS1 gene.
More info about this panel New Zealand.
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.
Citrullinemia, Type I (ASS1) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ASS1 gene.
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
ASS1 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ASS1 gene.
More info about this panel United States.
Citrullinemia Type I Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ASS1 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.
ASS1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ASS1 gene.
More info about this panel Spain.
Citrullinemia (sequence analysis of ASS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ASS1 gene.
More info about this panel Portugal.
Citrullinemia Type 1 Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ASS1 gene.
More info about this panel India.
Citrullinemia type I Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the ASS1 gene.
More info about this panel Germany.
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.
Citrullinemia, Type I via ASS1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ASS1 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.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
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.
Citrullinemia type 1/ Argininosuccinate synthetase 1 deficiency (ASS1) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ASS1 gene.
More info about this panel Netherlands.
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.
Citrullinemia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ASS1 gene.
More info about this panel Germany.
Citrullinemia, type 1 Panel
Estonia.
By Asper Biogene Asper Biogene LLC
This panel specifically test the ASS1 gene.
More info about this panel Estonia.
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.
Citrullinemia type I, ASS1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ASS1 gene.
More info about this panel United States.
ASS1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ASS1 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
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 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 Elevated Citrulline Panel Panel
United States.
By Invitae Invitae Elevated Citrulline Panel that also includes the following genes: SLC25A13 ASL ASS1 PC
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.
Citrullinemia type 1: ASS1 gene (exons 3, 5, 12, 13, 14, 15) sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ASS1 gene.
More info about this panel Spain.
Citrullinemia type 1: ASS1 gene (remain exons) sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ASS1 gene.
More info about this panel Spain.
Citrullinemia Type I: ASS1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ASS1 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.
Citrullinemia: ASS1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ASS1 gene.
More info about this panel United States.
Citrullinemia: ASS1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ASS1 gene.
More info about this panel United States.
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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
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.
Citrullinemia Type 1 (ASS1) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ASS1 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.
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.
ASS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASS1 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.
Citrullinemia Panel
Spain.
By Bioarray
This panel specifically test the ASS1 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.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
CITRULLINEMIA TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ASS1 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.
Citrullinemia Type 1 , Sequencing ASS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ASS1 gene.
More info about this panel Spain.
Citrullinemia Type 1 , Sequencing Rest Exons ASS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ASS1 gene.
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.
Citrullinemia type I: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ASS1 gene.
More info about this panel Canada.
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.
Citrullinemia types 1 and 2: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Citrullinemia types 1 and 2: gene sequencing panel (RAPID testing) that also includes the following genes: SLC25A13 ASS1
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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
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.
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