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mitochondrial non-syndromic sensorineural hearing loss - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial non-syndromic sensorineural hearing loss

MONDO:0010779

Also known as:deafness, isolated, due to mitochondrial transmissionisolated mitochondrial neurosensory deafnessisolated mitochondrial sensorineural deafness

Overview

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

MT-RNR1-Related Hearing Loss

Aminoglycoside ototoxicity. Hearing loss occurs within a few days to weeks after administration of any amount (including a single dose) of aminoglycoside antibiotic such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. Hearing loss is bilateral and severe to profound . Once it appears, hearing loss is irreversible but not progressive. Hearing loss associated with the pathogenic variant results from hair cell loss and dysfunction and hence is cochlear in nature .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Mitochondrial nonsyndromic hearing loss and deafness should be suspected in a proband with the following:

Moderate-to-profound hearing loss

Hearing loss graded by level of severity:

Mild (26-40 dB)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for mitochondrial non-syndromic sensorineural hearing loss. The disease remains an area of unmet medical need.

Gene therapy approaches for mitochondrial non-syndromic sensorineural hearing loss have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of hearing loss and needs in an individual diagnosed with mitochondrial nonsyndromic hearing loss and deafness, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The following are appropriate:

Annual audiometric assessment to evaluate stability or progression of hearing loss
Annual examination by a physician to assess for related clinical findings (e.g., palmoplantar keratosis)

Source: GeneReviews — "Nonsyndromic Hearing Loss and Deafness, Mitochondrial"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial non-syndromic sensorineural hearing loss.

17 publications have been identified in PubMed for mitochondrial non-syndromic sensorineural hearing loss. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (18%), and Gene Therapy / Novel Therapeutics (18%).

Research Type	Count	% of Total
Laboratory research	5	29%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:500008

Orphanet

European rare disease database

Orphanet:90641

GARD

Genetic and Rare Diseases Info Center

GARD:16792

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

mitochondrial non-syndromic sensorineural hearing loss

Overview

Clinical Presentation

Clinical Guidance

MT-RNR1-Related Hearing Loss

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Prevention of Primary Manifestations

Clinical Guidance

Clinical Trials

Recent Publications

mitochondrial non-syndromic sensorineural hearing loss

Overview

Clinical Presentation

Clinical Guidance

MT-RNR1-Related Hearing Loss

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Treatment of Manifestations

Prevention of Primary Manifestations

Clinical Guidance

Clinical Trials

Recent Publications