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autosomal recessive nonsyndromic hearing loss 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 30

MONDO:0011774

Also known as:DFNB30MYO3A autosomal recessive nonsyndromic deafnessautosomal recessive deafness 30

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.

GeneticsAutosomal recessive · MYO3A (chr 10)

Clinical Presentation

Features include: Progressive sensorineural hearing impairment and Progressive hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	2	Progressive sensorineural hearing impairment, Progressive 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.

MYO3A encodes myosin IIIA (1,616 aa). Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing. Probably also plays a role in vision. Highest expression in Testis (6.3 TPM) and Artery Tibial (2.0 TPM).

Autosomal recessive nonsyndromic hearing loss 30 is associated with mutations in the MYO3A gene on chromosome 10.

MYO3A is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for MYO3A 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 30.

18 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 30. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (28%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	6	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607101

GARD

Genetic and Rare Diseases Info Center

GARD:22603

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 30

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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