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autosomal recessive nonsyndromic hearing loss 2 (DFNB2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 2

MONDO:0010807

Also known as:DFNB2MYO7A autosomal recessive nonsyndromic deafnessautosomal recessive deafness 2

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.

GeneticsAutosomal recessive · MYO7A (chr 11)

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: Abnormal vestibular function, Vertigo, and Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Vertigo, Inner ear hearing loss (sensorineural 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.

MYO7A encodes myosin VIIA (2,215 aa). Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Highest expression in Testis (43.8 TPM) and Adrenal Gland (40.7 TPM).

Autosomal recessive nonsyndromic hearing loss 2 is associated with mutations in the MYO7A gene on chromosome 11.

The MYO7A protein participates in RPE65 isomero-hydrolyses atREs to 11cROL, Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell, and Mechanoelectrical transduction (MET) channel transports cations from the extracellular region into the cytosol of stereocilia of inner hair cell pathways.

MYO7A 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 MYO7A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 2 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 2.

75 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 2. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (13%).

Research Type	Count	% of Total
Laboratory research	29	39%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600060

GARD

Genetic and Rare Diseases Info Center

GARD:22582

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 2

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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