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autosomal recessive nonsyndromic hearing loss 3 (DFNB3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 3

MONDO:0010860

Also known as:DFNB3MYO15A autosomal recessive nonsyndromic deafnessNRSD3

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.

GeneticsAutosomal recessive · MYO15A (chr 17)

OnsetCONGENITAL

Clinical Presentation

Features include: Profound sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Profound sensorineural hearing impairment

Age of onset: at birth.

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.

MYO15A encodes myosin XVA (3,530 aa). Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Highest expression in Pituitary (75.9 TPM) and Testis (10.0 TPM).

Autosomal recessive nonsyndromic hearing loss 3 is associated with mutations in the MYO15A gene on chromosome 17.

MYO15A is classified as a druggable target with score 0.0.

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.

Genetic testing for MYO15A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 3 has been reported in the published literature.

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 3.

11 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 3. Research spans Basic Science / Preclinical (55%), Epidemiology / Natural History (36%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Laboratory research	6	55%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600316

GARD

Genetic and Rare Diseases Info Center

GARD:22583

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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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