MT-TS1 gene related symptoms and diseases

All the information presented here about the MT-TS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-TS1 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Exercise intolerance Uncommon - Between 30% and 50% cases
Neurological speech impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MT-TS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Generalized tonic-clonic seizures
  • Ophthalmoplegia
  • Lactic acidosis
  • Generalized myoclonic seizures
  • Migraine
  • Increased serum lactate
  • Generalized-onset seizure
  • Pulmonary arterial hypertension

And 326 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-TS1 gene

Here you will find a list of rare diseases related to the MT-TS1. 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

PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME


Alternate names

PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME Is also known as palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma-hearing loss syndrome, palmoplantar hyperkeratosis-deafness syndrome, ppk-deafness syndrome

Description

Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.

Most common symptoms of PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hyperkeratosis
  • Palmoplantar keratoderma
  • Ectodermal dysplasia


More info about PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME

SOURCES: ORPHANET OMIM MESH

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Alternate names

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo, mtdna-related progressive external ophthalmoplegia, maternally-inherited chronic progressive external ophthalmoplegia

Description

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.


More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SOURCES: 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-TS1 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

Test for Mitochondrial Hearing Loss and Deafness Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Test for Mitochondrial Hearing Loss and Deafness that also includes the following genes: MT-RNR1 MT-TS1

More info about this panel

Mitochondrial Hearing Loss - MTTS1 Gene Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the MT-TS1 gene.

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

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

Hearing Loss Panel- Tier 1 Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hearing Loss Panel- Tier 1 that also includes the following genes: GJB2 GJB6 MT-RNR1 MT-TS1

More info about this panel

MT-TS1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the MT-TS1 gene.

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

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations that also includes the following genes: GJB2 GJB6 MT-RNR1 MT-TS1

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

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

MT-TS1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-TS1 gene.

More info about this panel

MERRF/MELAS overlap syndrome (sequence analysis of MTTS1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-TS1 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

MT-TS1-Related Hearing Loss and Deafness Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-TS1 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/MELAS overlap syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MT-TS1 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

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

Sensorineural Hearing Loss Panel

Estonia.

By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN

More info about this panel

USHER SYNDROME and NON-SYNDROMIC DEAFNESS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases USHER SYNDROME and NON-SYNDROMIC DEAFNESS that also includes the following genes: TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN TMC1 ADGRV1

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-TS1 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

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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