CARS2 gene related symptoms and diseases

All the information presented here about the CARS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CARS2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hepatic steatosis Very Common - Between 80% and 100% cases
Decreased activity of mitochondrial respiratory chain Very Common - Between 80% and 100% cases
Microvesicular hepatic steatosis Very Common - Between 80% and 100% cases
Opisthotonus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CARS2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Ragged-red muscle fibers
  • Severe muscular hypotonia
  • Postnatal microcephaly
  • Tetraparesis
  • Status epilepticus
  • Generalized-onset seizure
  • Epileptic encephalopathy
  • Increased serum lactate

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CARS2 gene

Here you will find a list of rare diseases related to the CARS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27


Alternate names

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27 Is also known as coxpd27

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27

SOURCES: OMIM ORPHANET


Potential gene panels for CARS2 gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

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

CARS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CARS2 gene.

More info about this panel


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