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.

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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

SOURCES: ORPHANET OMIM

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


Potential gene panels for COA5 gene

Ataxia Exome Panel Panel

United States.

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 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 Complex IV Deficiency via COA5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COA5 gene.

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

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

AllNeuro panel Panel

Germany.

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 panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COA5 gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

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 panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

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 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

Nuclear-Mito NGS Panel Panel

United States.

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 panel

COA5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COA5 gene.

More info about this panel


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