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.
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
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
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
Search interest in MT-RNR1
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 United States.
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 United States.
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 United States.
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 United States.
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 Netherlands.
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 United States.
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 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.
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 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.
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 United States.
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 United States.
MTRNR1 Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the MT-RNR1 gene.
More info about this panel Canada.
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 Spain.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 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.
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 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.
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 United Kingdom.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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.
Mitochondrial nonsyndromic sensorineural deafness Panel
Spain.
By Bioarray
This panel specifically test the MT-RNR1 gene.
More info about this panel Spain.
Familiar hereditary deafness Panel
Spain.
By Bioarray
This panel specifically test the MT-RNR1 gene.
More info about this panel Spain.
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.
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