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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM MESH

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

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: ORPHANET OMIM


Potential gene panels for MT-CO1 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

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

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

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

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

MTCO1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-CO1 gene.

More info about this panel

MT-CO1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-CO1 gene.

More info about this panel

Leber optic atrophy (sequence analysis of MTCO1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-CO1 gene.

More info about this panel

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

Hearing Loss/Deafness Multi-Gene Panels Panel

Germany.

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 panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-CO1 gene.

More info about this panel

Leber optic atrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-CO1 gene.

More info about this panel

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

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

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

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

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

Mitochondrial nonsyndromic sensorineural deafness Panel

Spain.

By Bioarray

This panel specifically test the MT-CO1 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ZNF513 GPI TDO2 SUMO1 ARHGEF9

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more