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autosomal recessive nonsyndromic hearing loss 74 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 74

MONDO:0013386

Also known as:DFNB74MSRB3 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 74

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.

GeneticsAutosomal recessive · MSRB3 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Hearing loss (hearing impairment) and Rod-cone dystrophy.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)

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.

MSRB3 encodes methionine sulfoxide reductase B3 (192 aa). Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing Highest expression in Artery Tibial (267.0 TPM) and Artery Aorta (194.6 TPM).

Autosomal recessive nonsyndromic hearing loss 74 is associated with mutations in the MSRB3 gene on chromosome 12.

MSRB3 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for MSRB3 is available. Testing is considered confirmatory for diagnosis.

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 autosomal recessive nonsyndromic hearing loss 74.

2 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 74. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Wu F (2025). [PMID: 40538303](https://pubmed.ncbi.nlm.nih.gov/40538303/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]
Sayed-Ahmed MM (2024). [PMID: 39467922](https://pubmed.ncbi.nlm.nih.gov/39467922/). *J Mol Neurosci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613718

GARD

Genetic and Rare Diseases Info Center

GARD:22638

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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autosomal recessive nonsyndromic hearing loss 74

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team