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hearing loss, autosomal recessive 94 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 94

MONDO:0032749

Also known as:DFNB94deafness, autosomal recessive 94

Overview

GeneticsAutosomal recessive · NARS2 (chr 11)

OnsetINFANTILE

ResearchLimited published research (8 articles)

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.

Features include always present findings: Bilateral sensorineural hearing impairment; and rarely findings: Abnormal vestibular function.

Organ System	Phenotype Count	Example Features
Ears	2	Bilateral sensorineural hearing impairment, Abnormal vestibular function

Age of onset: infancy.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NARS2 encodes asparaginyl-tRNA synthetase 2, mitochondrial (477 aa). Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis. Highest expression in Cells EBV-transformed lymphocytes (24.4 TPM) and Ovary (17.6 TPM).

Hearing loss, autosomal recessive 94 is associated with mutations in the NARS2 gene on chromosome 11.

NARS2 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for NARS2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 hearing loss, autosomal recessive 94.

8 publications have been identified in PubMed for hearing loss, autosomal recessive 94. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (38%), and Review / Meta-Analysis (13%).

Recent Publications

Yan A (2026). [PMID: 40930722](https://pubmed.ncbi.nlm.nih.gov/40930722/). *Pract Neurol*. [Case Report / Case Series]
Vincent A (2025). [PMID: 40324556](https://pubmed.ncbi.nlm.nih.gov/40324556/). *American journal of ophthalmology*. [Epidemiology / Natural History]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes*. [Epidemiology / Natural History]
Salame M (2025). [PMID: 39230647](https://pubmed.ncbi.nlm.nih.gov/39230647/). *Journal of applied genetics*. [Case Report / Case Series]
Wu H (2025). [PMID: 40264468](https://pubmed.ncbi.nlm.nih.gov/40264468/). *Frontiers in pediatrics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618434

GARD

Genetic and Rare Diseases Info Center

GARD:22661

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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hearing loss, autosomal recessive 94

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team