ASL gene related symptoms and diseases

All the information presented here about the ASL gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ASL gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Increased reactive oxygen species production	Very Common - Between 80% and 100% cases
Decreased liver function	Very Common - Between 80% and 100% cases
Hepatic fibrosis	Very Common - Between 80% and 100% cases
Aminoaciduria	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ASL gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Intellectual disability, progressive
Tachypnea
Hyperammonemia
Brittle hair
Hyperventilation
Alkalosis
Aciduria
Cerebral edema

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ASL gene

Here you will find a list of rare diseases related to the ASL. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ARGININOSUCCINIC ACIDURIA

Alternate names

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency, asa deficiency, argininosuccinase deficiency, argininosuccinatelyase deficiency, argininosuccinate lyase deficiency, asl deficiency

Description

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

Most common symptoms of ARGININOSUCCINIC ACIDURIA

Intellectual disability
Seizures
Global developmental delay
Short stature
Ataxia

More info about ARGININOSUCCINIC ACIDURIA

SOURCES: ORPHANET MESH OMIM

Search interest in ASL

Potential gene panels for ASL 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

ASL gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ASL gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to ASL gene

ARGININOSUCCINIC ACIDURIA

Alternate names

Description

Most common symptoms of ARGININOSUCCINIC ACIDURIA

Search interest in ASL

Potential gene panels for ASL gene

MitoMet®Plus aCGH Analysis Panel

ASL Sequence Analysis Panel

ASL Sequence Analysis (Familial Mutation/Variant Analysis) Panel

ASL Sequence Analysis (Prenatal Diagnosis) Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Urea Cycle Disorders Panel

Ataxia Exome Panel Panel

Urea Cycle Disease Panel Panel

ASL Gene Sequencing Panel

Argininosuccinate Lyase Deficiency Panel

Hyperammonaemia/Urea cycle disorders Panel

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

Argininosuccinate lyase deficiency (sequence analysis of ASL gene) Panel

Argininosuccinate lyase Finnish mutation analysis Panel

Argininosuccinate Lyase Deficiency Panel

Argininosuccinate Lyase Deficiency via ASL Gene Sequencing with CNV Detection Panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

Urea Cycle Disorders Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Neurogenetic Disorders - panels Panel

Ataxia Panel

Episodic Ataxia and Phenocopies Panel

Argininosuccinic aciduria / ASL deficiency Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Urea Cycle Disorder Panel

qCarrier Plus Panel

Invitae Urea Cycle Disorders Panel Panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

Invitae Elevated Citrulline Panel Panel

Invitae Treatable Neurometabolic Disorders Panel Panel

Argininosuccinate lyase deficiency: ASL gene sequence analysis. Panel

UREA CYCLE DISORDERS Panel

Argininosuccinate Lyase Deficiency: ASL Gene Sequencing Panel

Argininosuccinate Lyase Deficiency: ASL Gene Deletion/Duplication Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

Urea Cycle Defect (UCD): Sequencing NGS Multi-Gene Panel (8 genes) Panel

Argininosuccinic Aciduria, aka Argininosuccinic Acid Lyase Deficiency (ASL) Panel

Inheritest NGS, Comprehensive Panel

ASL Panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Comprehensive Metabolism Panel Panel

Baby Genes Targeted Panel Panel

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

ARGININOSUCCINASE DEFICIENCY (ARGININOSUCCINIC ACIDURIA) Panel

UREA CYCLE DISORDERS Panel

UREA CYCLE DISORDERS: NGS PANEL Panel

Argininosuccinic acidemia Panel

Argininosuccinate Lyase Deficiency, Sequencing ASL Gene Panel

Urea Cycle Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Argininosuccinic aciduria: Full gene sequencing (Rapid testing) Panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Citrullinemia: gene sequencing panel (Rapid testing) Panel

Citrullinemia: gene sequencing panel (RAPID testing) Panel