MT-TK gene related symptoms and diseases

All the information presented here about the MT-TK 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-TK gene

Symptoms // Phenotype % Cases
Ragged-red muscle fibers Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Mental deterioration
  • Progressive sensorineural hearing impairment
  • External ophthalmoplegia
  • Dyspnea
  • Seizures
  • Increased serum lactate
  • Ophthalmoplegia
  • Progressive external ophthalmoplegia

And 340 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-TK gene

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


MERRF


Alternate names

MERRF Is also known as fukuhara syndrome, myoclonus epilepsy associated with ragged-red fibres, merrf syndrome

Description

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

Most common symptoms of MERRF

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about MERRF

SOURCES: MESH ORPHANET OMIM

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

MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME


Alternate names

MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME Is also known as maternally-inherited infantile subacute necrotizing encephalopathy, mtdna-associated leigh syndrome, mils, maternally-inherited leigh disease

Description

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


More info about MITOCHONDRIAL DNA-ASSOCIATED LEIGH SYNDROME

SOURCES: ORPHANET

MATERNALLY-INHERITED DIABETES AND DEAFNESS


Alternate names

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome, diabetes-deafness syndrome, maternally transmitted, mitochondrial diabetes, noninsulin-dependent diabetes mellitus with deafness, niddm with deafness, diabetes mellitus, type ii, with deafness, midd

Description

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

Most common symptoms of MATERNALLY-INHERITED DIABETES AND DEAFNESS

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

SOURCES: OMIM MESH ORPHANET

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Alternate names

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss, trna-lys-related cardiomyopathy-hearing loss syndrome, maternally-inherited cardiomyopathy and deafness

Description

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

Most common symptoms of MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

SOURCES: ORPHANET


Potential gene panels for MT-TK gene

Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) Panel

United States.

By Athena Diagnostics Inc Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) that also includes the following genes: MT-TK MT-TL1 POLG

More info about this panel

MERRF mtDNA Evaluation Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the MT-TK gene.

More info about this panel

Myoclonus with epilepsy with ragged red fibers Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the MT-TK gene.

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

Comprehensive Cardiomyopathy Panel Panel

United States.

By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3

More info about this panel

HCM Sequencing Panel Panel

United States.

By GeneDx HCM Sequencing Panel that also includes the following genes: TNNC1 TNNI3 TNNT2 TPM1 TTR ACTC1 CAV3 GLA LAMP2 MT-TG

More info about this panel

DCM/LVNC Sequencing Panel Panel

United States.

By GeneDx DCM/LVNC Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

MTTK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-TK gene.

More info about this panel

MT-TK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-TK gene.

More info about this panel

Myoclonic epilepsy associated with ragged-red fibers (MERRF, A8344G mutation) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-TK gene.

More info about this panel

MERRF Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the MT-TK 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

MERRF Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-TK gene.

More info about this panel

MERRF/MELAS Overlap Syndrome Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-TK 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

MERRF syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-TK gene.

More info about this panel

Mitochondrial dysfunctions panel Panel

Germany.

By Centogene AG - the Rare Disease Company Mitochondrial dysfunctions panel that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 PUS1 RRM2B DGUOK TYMP MPV17 MT-ND1

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

MERFF Panel

Sweden.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital

This panel specifically test the MT-TK gene.

More info about this panel

MERRF, MT-TK sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the MT-TK gene.

More info about this panel

Myoclonic epilepsy with red ragged fibers Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MT-TK gene.

More info about this panel

Myoclonic epilepsy with red ragged fibers Panel

Slovakia.

By MedGene

This panel specifically test the MT-TK gene.

More info about this panel

Mitochondrial diabetes and deafness: A8296G and T14709C mutation analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Mitochondrial diabetes and deafness: A8296G and T14709C mutation analysis that also includes the following genes: MT-TE MT-TK

More info about this panel

Myoclonic epilepsy with ragged red fibers (MERFF): Mutations analysis (A8344G and T8356C) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MT-TK gene.

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

MERRF syndrome Panel

Spain.

By Bioarray

This panel specifically test the MT-TK gene.

More info about this panel

Comprehensive Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Dilated Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1

More info about this panel

Hypertrophic Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Hypertrophic Cardiomyopathy Panel that also includes the following genes: BMPR2 TNNC1 TNNI3 TNNT2 TPM1 TTR CAV3 GLA LAMP2 MT-TG

More info about this panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2

More info about this panel


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