COA5 gene related symptoms and diseases
All the information presented here about the COA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COA5 gene
Symptoms // Phenotype | % Cases |
---|---|
Cardiomyopathy | Very Common - Between 80% and 100% cases |
Hypertrophic cardiomyopathy | Very Common - Between 80% and 100% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Increased serum lactate | Uncommon - Between 30% and 50% cases |
Neuronal loss in basal ganglia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with COA5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Limited extraocular movements
- Inspiratory stridor
- Breathing dysregulation
- Increased CSF lactate
- Stridor
- Ragged-red muscle fibers
- Spontaneous abortion
- Cardiomegaly
And 14 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COA5 gene
Here you will find a list of rare diseases related to the COA5. 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 3; CEMCOX3
Most common symptoms of CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3; CEMCOX3
- Cardiomyopathy
- Hypertrophic cardiomyopathy
More info about CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 3; CEMCOX3
SOURCES: OMIM
Search interest in COA5
Potential gene panels for COA5 gene
Ataxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelMitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel
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 panelMitochondrial Complex IV Deficiency via COA5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the COA5 gene.
More info about this panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
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 panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the COA5 gene.
More info about this panelNuclear encoded Mitochondriopathies Panel Panel
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelCardiovascular Diseases_General Panel Panel
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 panelArrhythmia General Panel Panel
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 panelHypertrophic cardiomyopathy extended panel Panel
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 panelCardiomyopathies General Panel Panel
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 panelNuclear-Mito NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panelCOA5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COA5 gene.
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