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.
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
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
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
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
Search interest in MT-TK
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 United States.
MERRF mtDNA Evaluation Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the MT-TK gene.
More info about this panel United States.
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 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.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Portugal.
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 India.
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.
MERRF Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MT-TK gene.
More info about this panel Germany.
MERRF/MELAS Overlap Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the MT-TK 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.
MERRF syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MT-TK gene.
More info about this panel Germany.
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 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.
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 Sweden.
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 United States.
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 Austria.
Myoclonic epilepsy with red ragged fibers Panel
Slovakia.
By MedGene
This panel specifically test the MT-TK gene.
More info about this panel Slovakia.
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 Spain.
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 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.
MERRF syndrome Panel
Spain.
By Bioarray
This panel specifically test the MT-TK gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT HBD HCFC1 DCLRE1C KIF5C BICRA PRCD