COX8A gene related symptoms and diseases

All the information presented here about the COX8A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COX8A 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 COX8A 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 COX8A gene

Here you will find a list of rare diseases related to the COX8A. 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 COX8A gene

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC

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

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


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