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autosomal dominant nonsyndromic hearing loss 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 22

MONDO:0011660

Also known as:DFNA22MYO6 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 22

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.

GeneticsAutosomal dominant · MYO6 (chr 6)

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: Progressive sensorineural hearing impairment and Inner ear hearing loss (sensorineural hearing impairment).

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

MYO6 encodes myosin VI (1,294 aa). Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Highest expression in Lung (31.4 TPM) and Kidney Medulla (29.8 TPM).

Autosomal dominant nonsyndromic hearing loss 22 is associated with mutations in the MYO6 gene on chromosome 6.

MYO6 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYO6 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 dominant nonsyndromic hearing loss 22.

15 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 22. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Research summaries	4	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606346

GARD

Genetic and Rare Diseases Info Center

GARD:9167

Questions for Your Care Team

→Should I pursue genetic testing for MYO6, and what would the results mean for my family?
→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 dominant nonsyndromic hearing loss 22

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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