AARS gene related symptoms and diseases

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

Top 5 symptoms associated to AARS gene



Symptoms // Phenotype % Cases
Areflexia Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Encephalopathy Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Not very common - Between 30% and 50% cases

Nystagmus Failure to thrive Spasticity Intrauterine growth retardation Dystonia Cerebral atrophy Hip dislocation Congenital onset

And 30 more phenotypes.

Mendelian

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Rare diseases associated to AARS gene

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


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N

Alternate names

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N Is also known as charcot-marie-tooth neuropathy, axonal, type 2n, charcot-marie-tooth disease, axonal, autosomal dominant, type 2n;cmt2n

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N

  • Autosomal dominant inheritance
  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Skeletal muscle atrophy


More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N

SOURCES: SCTID UMLS OMIM DOID ORPHANET GARD MONDO MESH

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

SOURCES: UMLS MONDO OMIM

Potential gene panels for AARS gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: GARS KIF1B MFN2 VCP HARS KARS AIFM1 SURF1 NEFH SLC12A6

More info about this panel

Charcot-Marie-Tooth Syndrome Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Charcot-Marie-Tooth Syndrome that also includes the following genes: GARS KIF1B MFN2 NDRG1 SBF2 PRX FIG4 FGD4 SH3TC2 MTMR2

More info about this panel

Dystonia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Dystonia Exome Panel that also includes the following genes: AARS2 UQCRQ ATP7B AUH BCS1L PSEN1 GLB1 HPRT1 POLG NDUFS4

More info about this panel

Charcot Marie Tooth Panel Panel

By Molecular Genetics Laboratory London Health Sciences Centre in Canada. Charcot Marie Tooth Panel that also includes the following genes: TTR GARS KIF1B MFN2 AIFM1 NDRG1 SBF2 PRX FIG4 FGD4

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

By ARUP Laboratories, Molecular Genetics and Genomics in United States. Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: ATP7A FBLN5 GARS KIF1B MFN2 HARS KARS SPTLC2 REEP1 AIFM1

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing Panel

By ARUP Laboratories, Molecular Genetics and Genomics in United States. Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing that also includes the following genes: ATP7A FBLN5 GARS KIF1B MFN2 HARS KARS SPTLC2 REEP1 AIFM1

More info about this panel

AARS. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the AARS gene.

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

By CGC Genetics in Portugal. Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: TTR ABHD12 TWNK C12orf65 GARS KIF1B MFN2 KARS SPTLC2 REEP1

More info about this panel

Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel

By CGC Genetics in Portugal. Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: C12orf65 GARS KIF1B MFN2 KARS AIFM1 HK1 NDRG1 SBF2 PRX

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: UBE3A ADSL TUBB3 POLG MECP2 GAMT STXBP1 TUBA1A CTSD SLC25A22

More info about this panel

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: FBLN5 GARS MFN2 KARS AIFM1 HK1 NDRG1 SBF2 PRX FIG4

More info about this panel

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: GARS MFN2 KARS AIFM1 HK1 NDRG1 SBF2 PRX FIG4 FGD4

More info about this panel

Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: ATP7A GARS REEP1 TRPV4 HSPB8 HSPB1 BSCL2 SIGMAR1 SETX DCTN1

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: TTR ATP7A FBLN5 GARS MFN2 KARS SPTLC2 REEP1 AIFM1 HK1

More info about this panel

Atrial fibrillation Deletion / Duplication test Panel

By Connective Tissue Gene Tests in United States. Atrial fibrillation Deletion / Duplication test that also includes the following genes: C12orf65 GARS HADHB AIFM1 GLA FIG4 FGD4 GDAP1 EGR2 HSPB1

More info about this panel

Atrioventricular block Comprehensive test Panel

By Connective Tissue Gene Tests in United States. Atrioventricular block Comprehensive test that also includes the following genes: C12orf65 GAA AIFM1 GLA BSCL2 COX6A1 AARS ATP1A1

More info about this panel

Atrioventricular block NGS test Panel

By Connective Tissue Gene Tests in United States. Atrioventricular block NGS test that also includes the following genes: C12orf65 GAA AIFM1 GLA BSCL2 COX6A1 AARS ATP1A1

More info about this panel

Atrial fibrillation Comprehensive test Panel

By Connective Tissue Gene Tests in United States. Atrial fibrillation Comprehensive test that also includes the following genes: C12orf65 GARS HADHB AIFM1 GLA FIG4 FGD4 GDAP1 EGR2 HSPB1

More info about this panel

Atrial fibrillation NGS test Panel

By Connective Tissue Gene Tests in United States. Atrial fibrillation NGS test that also includes the following genes: C12orf65 GARS HADHB AIFM1 GLA FIG4 FGD4 GDAP1 EGR2 HSPB1

More info about this panel

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

By Connective Tissue Gene Tests in United States. Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: C12orf65 GARS KIF1B MFN2 KARS HADHB AIFM1 NDRG1 SBF2 PRX

More info about this panel

Charcot-Marie-Tooth disease NGS panel Panel

By Connective Tissue Gene Tests in United States. Charcot-Marie-Tooth disease NGS panel that also includes the following genes: C12orf65 GARS KIF1B MFN2 KARS HADHB AIFM1 NDRG1 SBF2 PRX

More info about this panel

Charcot-Marie-Tooth disease Comprehensive panel Panel

By Connective Tissue Gene Tests in United States. Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: C12orf65 GARS KIF1B MFN2 KARS HADHB AIFM1 NDRG1 SBF2 PRX

More info about this panel

Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: FMR1 UBE3A PTEN MCCC1 MCCC2 ACAD9 PC ANKH HLCS ATP7A

More info about this panel

Neuropathy Panel

By MGZ Medical Genetics Center in Germany. Neuropathy that also includes the following genes: TTR ABHD12 ATP7A C12orf65 GAA FBLN5 OPTN AMACR POLG GARS

More info about this panel

Newborn: Cardiomyopathy as presenting sign Panel

By MGZ Medical Genetics Center in Germany. Newborn: Cardiomyopathy as presenting sign that also includes the following genes: ACAD9 ACADM ACADS ACADVL GAA CPT2 MTO1 AGK TMEM70 SLC25A3

More info about this panel

Charcot-Marie-Tooth Neuropathy Type 2N Panel

By MGZ Medical Genetics Center in Germany.

This panel specifically test the AARS gene.

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

By MGZ Medical Genetics Center in Germany. Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: TTR ACAD9 ACADM ACADS AGL ACADVL TWNK GAA TUBB3 AMACR

More info about this panel

Charcot Marie Tooth Type 2 Panel Panel

By FirmaLab in United States. Charcot Marie Tooth Type 2 Panel that also includes the following genes: GARS KIF1B MFN2 GDAP1 TRPV4 MPZ NEFL HSPB8 RAB7A HSPB1

More info about this panel

CMT2, unclassified Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AARS gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

More info about this panel

Spinal Muscular Atrophy Panel Panel

By CeGaT GmbH in Germany. Spinal Muscular Atrophy Panel that also includes the following genes: ATP7A GARS REEP1 SCO2 HEXA TRPV4 HSPB8 HSPB1 UBA1 BSCL2

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: AARS2 PC TYROBP ATP7A ATP7B AUH BCS1L C12orf65 MMACHC HSD17B4

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

By CeGaT GmbH in Germany. Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: TTR ABHD12 TWNK C12orf65 FBLN5 OPA1 POLG GARS KIF1B MFN2

More info about this panel

Spinal Muscular Atrophy (SMA) Panel Panel

By CeGaT GmbH in Germany. Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: ATP7A GARS REEP1 SCO2 HEXA TRPV4 HSPB8 HSPB1 UBA1 BSCL2

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

By CeGaT GmbH in Germany. Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: AARS2 TYROBP HSD17B4 PSAP HSPD1 SCP2 DARS2 ABCD1 ALDH3A2 ACOX1

More info about this panel

Charcot-Marie-Tooth Disease Panel

By Asper Biogene Asper Biogene LLC in Estonia. Charcot-Marie-Tooth Disease that also includes the following genes: C12orf65 POLG GARS KIF1B MFN2 VCP HARS KARS SPTLC2 REEP1

More info about this panel

Epilepsy Panel

By Asper Biogene Asper Biogene LLC in Estonia. Epilepsy that also includes the following genes: UBE3A MCCC1 ADSL TUBB3 POLG MECP2 GAMT GATM STXBP1 SLC25A22

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

By Invitae in United States. Invitae Comprehensive Neuropathies Panel that also includes the following genes: TTR ATP7A GARS MFN2 HARS SPTLC2 REEP1 AIFM1 ELP1 NDRG1

More info about this panel

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel

By Invitae in United States. Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: GARS MFN2 HARS AIFM1 NDRG1 SBF2 PRX FIG4 FGD4 SH3TC2

More info about this panel

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel

By Invitae in United States. Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: GARS MFN2 HARS GDAP1 TRPV4 MPZ PMP22 NEFL HSPB8 LITAF

More info about this panel

CHARCOT- MARIE TOOTH Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CHARCOT- MARIE TOOTH that also includes the following genes: GARS KIF1B MFN2 HK1 NDRG1 SBF2 PRX FIG4 FGD4 SH3TC2

More info about this panel

Epileptic encephalopathies Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Epileptic encephalopathies that also includes the following genes: MECP2 STXBP1 SLC25A22 GCSH GLDC AMT WWOX ARX CDKL5 PCDH19

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Hereditary Neuropathies: Sequencing Panel that also includes the following genes: TTR ATP7A TWNK PRKCG POLG GARS KIF1B MFN2 SPTLC2 COQ8A

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: TTR ATP7A TWNK PRKCG POLG GARS KIF1B MFN2 SPTLC2 COQ8A

More info about this panel

Hereditary Neuropathies NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Hereditary Neuropathies NGS Panel that also includes the following genes: TTR GARS KIF1B MFN2 SPTLC2 GLA NDRG1 SBF2 PRX FGD4

More info about this panel

Charcot Marie Tooth Disease Extended NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: TTR ATP7A GARS KIF1B MFN2 SPTLC2 REEP1 ELP1 GLA SLC12A6

More info about this panel

AARS Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the AARS gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

By Blueprint Genetics in Finland. Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: TTR ATP7A C12orf65 FBLN5 AMACR GNE POLG GARS KIF1B MFN2

More info about this panel

Spinal Muscular Atrophy Panel Panel

By Blueprint Genetics in Finland. Spinal Muscular Atrophy Panel that also includes the following genes: ATP7A GARS REEP1 SCO2 HEXA SMN1 TRPV4 HSPB8 HSPB1 SMN2

More info about this panel

Charcot-Marie-Tooth neuropathy type 2N Panel

By Bioarray in Spain.

This panel specifically test the AARS gene.

More info about this panel

Charcot-Marie-Tooth disease, axonal, type 2N Panel

By Bioarray in Spain.

This panel specifically test the AARS gene.

More info about this panel

CHARCOT-MARIE-TOOTH : NGS PANEL Panel

By Laboratorio de Genetica Clinica SL in Spain. CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: GARS KIF1B MFN2 KARS HK1 NDRG1 SBF2 PRX FIG4 FGD4

More info about this panel

Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel Panel

By LifeLabs Genetics in Canada. Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel that also includes the following genes: GARS KIF1B MFN2 SLC12A6 GDAP1 TRPV4 MPZ NEFL HSPB8 HSPB1

More info about this panel

Charcot-Marie-Tooth Disease Type 2N , Sequencing AARS Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the AARS gene.

More info about this panel

Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes Panel

By Reference Laboratory Genetics in Spain. Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: GARS KIF1B MFN2 PHYH PEX7 SLC12A6 NDRG1 SBF2 PRX FIG4

More info about this panel

Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel

By Reference Laboratory Genetics in Spain. Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: GARS KIF1B MFN2 HK1 NDRG1 SBF2 PRX FIG4 FGD4 SH3TC2

More info about this panel

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

By Reference Laboratory Genetics in Spain. Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: ATP7A OCRL GARS KIF1B MFN2 VCP KARS REEP1 ELP1 SMN1

More info about this panel

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

By Reference Laboratory Genetics in Spain. Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SLC25A12 STXBP1 ARX CDKL5 PCDH19 SCN1A CACNA1A GABRB3 SCN9A SCN2A

More info about this panel

Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel

By Reference Laboratory Genetics in Spain. Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GARS KIF1B MFN2 HARS NAGLU GDAP1 TRPV4 MPZ NEFL HSPB8

More info about this panel


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