MT-RNR1 gene related symptoms and diseases

All the information presented here about the MT-RNR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MT-RNR1 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
Mildly elevated creatine phosphokinase Uncommon - Between 30% and 50% cases
Intrahepatic cholestasis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MT-RNR1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Motor axonal neuropathy
  • Ventricular extrasystoles
  • Progressive external ophthalmoplegia
  • Mitochondrial myopathy
  • Lipoma
  • Hyperthyroidism
  • Muscle fibrillation
  • Multiple lipomas

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MT-RNR1 gene

Here you will find a list of rare diseases related to the MT-RNR1. 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

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-RNR1 gene

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

Aminoglycoside-induced hearing loss Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the MT-RNR1 gene.

More info about this panel

Hearing Loss (Connexin-26, Connexin-30, Mitochondrial A1555G) Panel

United States.

By Center for Human Genetics, Inc Hearing Loss (Connexin-26, Connexin-30, Mitochondrial A1555G) that also includes the following genes: GJB2 GJB6 MT-RNR1

More info about this panel

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

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

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

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

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

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

Hearing Loss, mtDNA 2 Mutations Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the MT-RNR1 gene.

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

MTRNR1 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the MT-RNR1 gene.

More info about this panel

MTRNR1. Detection of the mutation m.1555A>G by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MT-RNR1 gene.

More info about this panel

Deafness nonsyndromic sensorineural mitochondrial (sequence analysis of MT-RNR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-RNR1 gene.

More info about this panel

Congenital mitochondrial deafness (961delT/insC mutation on MTRNR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MT-RNR1 gene.

More info about this panel

MTRNR1-related hearing loss and deafness Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the MT-RNR1 gene.

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-RNR1-Related Hearing Loss and Deafness Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MT-RNR1 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

Test for MT-RNR1-Related Hearing Loss and Deafness Panel

United Kingdom.

By All Wales Genetics Laboratory Institute of Medical Genetics

This panel specifically test the MT-RNR1 gene.

More info about this panel

Deafness, Hereditary: GJB2 (Connexin 26) gene y mitochondrial DNA mutations analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Deafness, Hereditary: GJB2 (Connexin 26) gene y mitochondrial DNA mutations analysis that also includes the following genes: GJB2 MT-RNR1

More info about this panel

Deafness, Hereditary: GJB2 and OTOF genes and mitochondrial DNA mutations analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Deafness, Hereditary: GJB2 and OTOF genes and mitochondrial DNA mutations analysis that also includes the following genes: GJB2 MT-RNR1 OTOF

More info about this panel

Deafness, Hereditary: Mitochondrial DNA mutations analysis (A1555G, C1494T, T1095C) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MT-RNR1 gene.

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

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

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-RNR1 gene.

More info about this panel

Familiar hereditary deafness Panel

Spain.

By Bioarray

This panel specifically test the MT-RNR1 gene.

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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