MT-CO1 gene related symptoms and diseases
All the information presented here about the MT-CO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MT-CO1 gene
Symptoms // Phenotype | % Cases |
---|---|
Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
Myopathy | Uncommon - Between 30% and 50% cases |
Ataxia | Uncommon - Between 30% and 50% cases |
Optic atrophy | Uncommon - Between 30% and 50% cases |
Intellectual disability | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MT-CO1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lactic acidosis
- Vertigo
- Confusion
- Generalized tonic-clonic seizures
- Apnea
- Hypertrophic cardiomyopathy
- Acidosis
- Proteinuria
And 373 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MT-CO1 gene
Here you will find a list of rare diseases related to the MT-CO1. 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
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
Alternate names
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE Is also known as mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure, streptomycin ototoxicity, mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure, mitochondrial non-syndromic sensorineura
Description
The mechanism of ototoxicity of aminoglycosides is thought to be interference with the production of ATP in the mitochondria of hair cells in the cochlea (Akiyoshoi et al., 1976). The aminoglycosides include kanamycin, gentamicin, tobramycin, and neomycin in addition to streptomycin.
Most common symptoms of MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
- Aminoglycoside-induced hearing loss
More info about MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS WITH SUSCEPTIBILITY TO AMINOGLYCOSIDE EXPOSURE
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS
Alternate names
MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS Is also known as isolated mitochondrial neurosensory deafness, isolated mitochondrial sensorineural deafness, mitochondrial non-syndromic neurosensory deafness
Description
Mutations in mitochondrial DNA (mtDNA) have been found to be associated with nonsyndromic sensorineural hearing loss. Matrilineal relatives within and among families carrying certain pathogenic mitochondrial mutations exhibit a wide range of penetrance, severity, and age of onset of hearing loss, indicating that the mitochondrial mutations by themselves are not sufficient to produce a deafness phenotype. Modifier factors, such as nuclear and mitochondrial genes, or environmental factors, such as exposure to aminoglycosides, appear to modulate the phenotypic manifestations (summary by Tang et al., 2007).
Most common symptoms of MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS
- Hearing impairment
- Sensorineural hearing impairment
- Vertigo
- Tinnitus
More info about MITOCHONDRIAL NON-SYNDROMIC SENSORINEURAL DEAFNESS
Search interest in MT-CO1
Potential gene panels for MT-CO1 gene
Mitochondrial diseases Panel
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 panelComprehensive Mitochondrial Metabolic Panel Panel
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 panelMitochondrial Genome Sequence Panel
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 panelMitochondrial Disorders (mtDNA) Sequencing Panel
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 panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
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 panelMTCO1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-CO1 gene.
More info about this panelMT-CO1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MT-CO1 gene.
More info about this panelLeber optic atrophy (sequence analysis of MTCO1 gene) Panel
By CGC Genetics
This panel specifically test the MT-CO1 gene.
More info about this panelMental retardation - different panels Panel
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 panelHearing Loss/Deafness Multi-Gene Panels Panel
By MGZ Medical Genetics Center Hearing Loss/Deafness Multi-Gene Panels that also includes the following genes: MT-CO1 MT-RNR1 MT-TS1 PRPS1
More info about this panelLeber optic atrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-CO1 gene.
More info about this panelLeber optic atrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-CO1 gene.
More info about this panelMitochondrial genome panel Panel
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 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 panelmtDNA encoded Mitochondriopathies Panel Panel
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 panelMitochondrial complex IV deficiency Panel
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 panelMitochondrial Genome NGS Panel Panel
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 panelMitochondrial nonsyndromic sensorineural deafness Panel
By Bioarray
This panel specifically test the MT-CO1 gene.
More info about this panelLEBER HEREDITARY OPTIC NEUROPATHY (LHON) Panel
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
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