MT-CO3 gene related symptoms and diseases
All the information presented here about the MT-CO3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-CO3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Common - Between 50% and 80% cases |
| Myopathy | Common - Between 50% and 80% cases |
| Optic atrophy | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Polyneuropathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MT-CO3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lactic acidosis
- Generalized tonic-clonic seizures
- Apnea
- Hypertrophic cardiomyopathy
- Proteinuria
- Gait ataxia
- Acidosis
- Myoclonus
And 371 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-CO3 gene
Here you will find a list of rare diseases related to the MT-CO3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MELAS
Alternate names
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Description
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
Most common symptoms of MELAS
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MELAS
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
GENETIC RECURRENT MYOGLOBINURIA
Description
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Most common symptoms of GENETIC RECURRENT MYOGLOBINURIA
- Ragged-red muscle fibers
- Recurrent myoglobinuria
- Exercise-induced myoglobinuria
More info about GENETIC RECURRENT MYOGLOBINURIA
LEBER HEREDITARY OPTIC NEUROPATHY
Alternate names
LEBER HEREDITARY OPTIC NEUROPATHY Is also known as leber optic atrophy, lhon, leber hereditary optic neuropathy
Description
Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.
Most common symptoms of LEBER HEREDITARY OPTIC NEUROPATHY
- Ataxia
- Visual impairment
- Peripheral neuropathy
- Optic atrophy
- Tremor
More info about LEBER HEREDITARY OPTIC NEUROPATHY
Search interest in MT-CO3
Potential gene panels for MT-CO3 gene
Mitochondrial diseases Panel
United States.
By Center for Human Genetics, Inc Mitochondrial diseases that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Mitochondrial Genome Sequence Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Mitochondrial Genome Sequence that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Argentina.
Mitochondrial Disorders (mtDNA) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders (mtDNA) Sequencing that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND4L MT-ND5 MT-RNR2 MT-TA
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Leber optic atrophy (sequence analysis of MTCO3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MT-CO3 gene.
More info about this panel Portugal.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Leber optic atrophy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-CO3 gene.
More info about this panel Germany.
Mitochondrial genome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mitochondrial genome panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Germany.
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 Germany.
mtDNA encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH mtDNA encoded Mitochondriopathies Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel Germany.
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 Spain.
Mitochondrial Genome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Mitochondrial Genome NGS Panel that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5
More info about this panel United States.
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) Panel
Spain.
By Laboratorio de Genetica Clinica SL LEBER HEREDITARY OPTIC NEUROPATHY (LHON) that also includes the following genes: MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND2 MT-ND3 MT-ND5
More info about this panel Spain.
Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics Mitochondrial Disease: ATP6, COX3 and ND3 gene sequencing that also includes the following genes: MT-CO3 MT-ND3
More info about this panel India.
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