COX14 gene related symptoms and diseases

All the information presented here about the COX14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COX14 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Aminoaciduria Very Common - Between 80% and 100% cases
Hypercalciuria Very Common - Between 80% and 100% cases
Poor suck Very Common - Between 80% and 100% cases
Poor head control Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COX14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperammonemia
  • Tachypnea
  • Leukoencephalopathy
  • Respiratory insufficiency due to muscle weakness
  • Severe muscular hypotonia
  • Exercise intolerance
  • Congenital hip dislocation
  • Polydipsia

And 88 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COX14 gene

Here you will find a list of rare diseases related to the COX14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED CYTOCHROME C OXIDASE DEFICIENCY


Alternate names

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency, cox deficiency, isolated cox deficiency, cytochrome c oxidase deficiency

Description

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

Most common symptoms of ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for COX14 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

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 via COX14 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COX14 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

Complex IV Defect Panel

Germany.

By MGZ Medical Genetics Center Complex IV Defect that also includes the following genes: SURF1 LRPPRC COX4I2 COX10 COX6B1 ETHE1 TACO1 C12orf65 COX14 FASTKD2

More info about this panel

Leigh Syndrome Panel

Germany.

By MGZ Medical Genetics Center Leigh Syndrome that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 LRPPRC SLC19A3

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

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

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 complex IV deficiency Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial complex IV deficiency that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX6B1 TACO1 COX14 FASTKD2 MT-CO1

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

COX14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COX14 gene.

More info about this panel

CYTOCHROME C OXIDASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL CYTOCHROME C OXIDASE DEFICIENCY that also includes the following genes: SCO1 SCO2 SURF1 COX10 COX15 COX14 FASTKD2

More info about this panel


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