AARS2 gene related symptoms and diseases

All the information presented here about the AARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM.

Top 5 symptoms associated to AARS2 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Apraxia Common - Between 50% and 80% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with AARS2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Spasticity

Not very common - Between 30% and 50% cases

Depressivity

Commonly - More than 50% cases

Myopathy

Not very common - Between 30% and 50% cases

Motor delay

Commonly - More than 50% cases

Cardiomyopathy

Not very common - Between 30% and 50% cases

Diffuse leukoencephalopathy Neuronal loss in central nervous system Memory impairment

And 80 more phenotypes.

Mendelian

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Rare diseases associated to AARS2 gene

Here you will find a list of rare diseases related to the AARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

Alternate names

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile;coxpd8

Description

COXPD8 is an autosomal recessive disorder due to dysfunction of the mitochondrial respiratory chain. The main clinical manifestation is a lethal infantile hypertrophic cardiomyopathy, but there may also be subtle skeletal muscle and brain involvement. Biochemical studies show combined respiratory chain complex deficiencies in complexes I, III, and IV in cardiac muscle, skeletal muscle, and brain. The liver is not affected (summary by Gotz et al., 2011).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

  • Autosomal recessive inheritance
  • Failure to thrive
  • Motor delay
  • Muscle weakness
  • Myopathy


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

SOURCES: OMIM UMLS ORPHANET MONDO

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

Description

Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014).

Most common symptoms of LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

  • Autosomal recessive inheritance
  • Ataxia
  • Nystagmus
  • Motor delay
  • Myopathy


More info about LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP

SOURCES: UMLS MONDO OMIM

LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS

Alternate names

LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS Is also known as leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia;alsp, leukoencephalopathy with neuroaxonal spheroids, autosomal dominant, gliosis, familial progressive subcortical;gpsc, dementia, familial, neumann type, subcortical gliosis of neumann;alsp; adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; autosomal dominant leukoencephalopathy with neuroaxonal spheroids; fpsg; familial dementia, neumann type; familial progressive subcortical gliosis; gpsc; hdls; hereditary diffuse leukoencephalopathy with spheroids; pold; pigmentary orthochromatic leukodystrophy; subcortical gliosis of neumann

Description

Hereditary diffuse leukoencephalopathy with spheroids is an autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes (summary by Rademakers et al., 2012).

Most common symptoms of LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Milia


More info about LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS

SOURCES: MESH ORPHANET SCTID GARD UMLS MONDO OMIM

Potential gene panels for AARS2 gene

AARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the AARS2 gene.

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AARS2 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the AARS2 gene.

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AARS2 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the AARS2 gene.

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AARS2 Sequence Analysis (Prenatal Diagnosis) Panel

By Baylor Miraca Genetics Laboratories in United States.

This panel specifically test the AARS2 gene.

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MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

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Comprehensive Mitochondrial Metabolic Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL ACADM AGL ACADVL ACAT1

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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

Ataxia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Ataxia Exome Panel that also includes the following genes: FMR1 TTR UBE3A AARS2 ABHD12 PC UQCRQ UQCRB HLCS BTD

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Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: AARS2 ACAD9 YARS2 UQCRQ UQCRB ATP5F1E ATPAF2 BCS1L TWNK C12orf65

More info about this panel

Hypertrophic cardiomyopathy - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Hypertrophic cardiomyopathy - different panels that also includes the following genes: TTR AARS2 ACAD9 AGL ACADVL ATPAF2 GAA GNPTAB GLB1 DLD

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Combined Respiratory Chain Defects Panel

By MGZ Medical Genetics Center in Germany. Combined Respiratory Chain Defects that also includes the following genes: AARS2 YARS2 C12orf65 TRMU POLG RRM2B MTO1 DGUOK SARS2 MTPAP

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Combined Oxidative Phosphorylation Deficiency 8 Panel

By MGZ Medical Genetics Center in Germany.

This panel specifically test the AARS2 gene.

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Mitochondrial Cardiomyopathy - Sanger Panel

By MGZ Medical Genetics Center in Germany. Mitochondrial Cardiomyopathy - Sanger that also includes the following genes: AARS2 ACAD9 MTO1 AGK TMEM70 SLC25A3 SCO2 COX15 MT-TL1 MT-ATP6

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Heart Diseases - panels Panel

By MGZ Medical Genetics Center in Germany. Heart Diseases - panels that also includes the following genes: TTR AARS2 ACAD9 ACADM ACADS AGL ACADVL GAA ELN CPT2

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Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center in Germany. Neurogenetic Disorders - panels that also includes the following genes: MTHFR TTR UBE3A AARS2 ABHD12 ACAD9 ACADM ACADS AGL ACADVL

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Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

By MGZ Medical Genetics Center in Germany. Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic that also includes the following genes: AARS2 ACAD9 TWNK TRMU POLG NDUFS4 RRM2B MTO1 COQ9 PDSS2

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Mitochondrial Diseases Panel

By MGZ Medical Genetics Center in Germany. Mitochondrial Diseases that also includes the following genes: AARS2 ACAD9 ACADM ACADS AGL ACADVL YARS2 PC UQCRQ UQCRB

More info about this panel

Mitochondrial Cardiomyopathy Panel

By MGZ Medical Genetics Center in Germany. Mitochondrial Cardiomyopathy that also includes the following genes: AARS2 ACAD9 ACADM ACADS ACADVL CPT2 MTO1 AGK TMEM70 SLC25A3

More info about this panel

Mitochondrial Encephalopathy Panel

By MGZ Medical Genetics Center in Germany. Mitochondrial Encephalopathy that also includes the following genes: AARS2 ACAD9 YARS2 PC UQCRQ UQCRB ATP5F1E ATPAF2 AUH BCS1L

More info about this panel

Infancy: Cardiomyopathies Panel

By MGZ Medical Genetics Center in Germany. Infancy: Cardiomyopathies that also includes the following genes: AARS2 ACAD9 ACADM ACADS ACADVL CPT2 DSP RAF1 MTO1 AGK

More info about this panel

Alanyl-tRNA Synthetase 2, mitochondrial deficiency (AARS2) Panel

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

This panel specifically test the AARS2 gene.

More info about this panel

Leukoencephalopathy, progressive, with ovarian failure Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AARS2 gene.

More info about this panel

Combined oxidative phosphorylation deficiency type 8 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AARS2 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

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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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Nuclear encoded Mitochondriopathies Panel Panel

By CeGaT GmbH in Germany. Nuclear encoded Mitochondriopathies Panel that also includes the following genes: MCCC1 MCCC2 AARS2 ACAD9 ACADM ACADS ACADVL ACAT1 YARS2 FBP1

More info about this panel

Ataxia and differential diagnoses Panel Panel

By CeGaT GmbH in Germany. Ataxia and differential diagnoses Panel that also includes the following genes: FMR1 AARS2 ABHD12 UQCRQ BTD ATP7B AUH TWNK PRKCG PAX6

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

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

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Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

By Asper Biogene Asper Biogene LLC in Estonia. Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: AARS2 ACAD9 ACADL ACADM ACADS ACADVL YARS2 FBP1 PC GYS2

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Inherited Cardiovascular Diseases and Sudden Death Panel Panel

By Health in Code in Spain. Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: HFE TTR AARS2 ACAD9 ACADM AGL ACADVL ATPAF2 GAA COL1A1

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Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

By Health in Code in Spain. Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATPAF2 GAA GNPTAB GLB1

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Cardiomyopathies Panel Panel

By Health in Code in Spain. Cardiomyopathies Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATPAF2 GAA PSEN1 ELN

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Hypertrophic Cardiomyopathy Extended Panel Panel

By Health in Code in Spain. Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: TTR AARS2 ACAD9 AGL ACADVL ATPAF2 GAA GNPTAB GLB1 DLD

More info about this panel

Cardiovascular Diseases_General Panel Panel

By Health in Code in Spain. Cardiovascular Diseases_General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATP7A ATPAF2 B4GALT7

More info about this panel

Arrhythmia General Panel Panel

By Health in Code in Spain. Arrhythmia General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATPAF2 GAA ELAC2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

By Health in Code in Spain. Hypertrophic cardiomyopathy extended panel that also includes the following genes: TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATPAF2 GAA ELAC2 GNPTAB

More info about this panel

Cardiomyopathies General Panel Panel

By Health in Code in Spain. Cardiomyopathies General Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL ATP5F1E ATPAF2 GAA ELAC2

More info about this panel

Nuclear-Mito NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Nuclear-Mito NGS Panel that also includes the following genes: HTT UBE3A MUTYH TP53 MCCC1 MCCC2 AARS2 ACACA ACAD9 ACADL

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AARS2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the AARS2 gene.

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Cardiomyopathy Panel Panel

By Blueprint Genetics in Finland. Cardiomyopathy Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL GAA ELAC2 CPT2 GLB1

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Comprehensive Cardiology Panel Panel

By Blueprint Genetics in Finland. Comprehensive Cardiology Panel that also includes the following genes: HFE TTR AARS2 ACAD9 AGL ACADVL GAA ELAC2 CPT2 GLB1

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