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.
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
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
Search interest in COA6
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
COA6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COA6 gene.
More info about this panel United States.
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