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

Rare Disease

autosomal recessive nonsyndromic hearing loss 22

MONDO:0011762

Also known as:DFNB22OTOA autosomal recessive nonsyndromic deafnessautosomal recessive deafness 22

Overview

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

GeneticsAutosomal recessive · OTOA (chr 16)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	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.

OTOA encodes otoancorin (1,153 aa). May act as an adhesion molecule

Autosomal recessive nonsyndromic hearing loss 22 is associated with mutations in the OTOA gene on chromosome 16.

OTOA is classified as a druggable target (Cell Surface and Druggable Genome categories) 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 OTOA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 22 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 22.

16 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 22. Research spans Case Report / Case Series (31%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	5	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607039

GARD

Genetic and Rare Diseases Info Center

GARD:22601

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 22

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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