COA6 gene related symptoms and diseases

All the information presented here about the COA6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COA6 gene

Symptoms // Phenotype % Cases
Acidosis Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases
Cardiomyopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COA6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Lactic acidosis
  • Not very common - Between 30% and 50% cases

  • Inspiratory stridor
  • Limited extraocular movements
  • Neuronal loss in basal ganglia
  • Basal ganglia gliosis
  • Congestive heart failure
  • Seizures
  • Lethargy

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

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Rare diseases associated to COA6 gene

Here you will find a list of rare diseases related to the COA6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY


Alternate names

FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy

Description

Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

Most common symptoms of FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

SOURCES: ORPHANET OMIM

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4; CEMCOX4


Most common symptoms of CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4; CEMCOX4

  • Generalized hypotonia
  • Muscular hypotonia
  • Cardiomyopathy
  • Congestive heart failure
  • Acidosis


More info about CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4; CEMCOX4

SOURCES: OMIM


Potential gene panels for COA6 gene

Mitochondrial Complex IV Deficiency via COA6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COA6 gene.

More info about this panel

Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: SCO1 SCO2 SURF1 LRPPRC COA6 APOPT1 COX15 COX6B1 TACO1 COA3

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

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Hypertrophic cardiomyopathy extended panel Panel

Spain.

By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

COA6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COA6 gene.

More info about this panel


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