Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hearing loss, autosomal dominant 82 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 82

MONDO:0030719

Also known as:DFNA82deafness, autosomal dominant 82

Overview

GeneticsAutosomal dominant · ATP2B2 (chr 3)

ResearchLimited published research (4 articles)

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 always present findings: Inner ear hearing loss (sensorineural hearing impairment); and sometimes findings: Tinnitus.

Organ System	Phenotype Count	Example Features
Ears	2	Inner ear hearing loss (sensorineural hearing impairment), Tinnitus

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.

ATP2B2 encodes ATPase plasma membrane Ca2+ transporting 2 (1,243 aa). ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems. Highest expression in Brain Cerebellar Hemisphere (165.1 TPM) and Brain Cerebellum (164.7 TPM).

Hearing loss, autosomal dominant 82 is associated with mutations in the ATP2B2 gene on chromosome 3.

The ATP2B2 protein participates in ATP2B2 isoform wa, ATP2B2-wa (PMCA2-wa) transports Ca2+ from the cytosol to the extracellular region, and Sensory processing of sound by inner hair cells of the cochlea pathways.

ATP2B2 is classified as a druggable target (Druggable Genome, Enzyme, Ion Channel, and Transporter categories) with score 1.5.

Diagnosis

Genetic testing for ATP2B2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 hearing loss, autosomal dominant 82.

4 publications have been identified in PubMed for hearing loss, autosomal dominant 82. Research spans Basic Science / Preclinical (50%), Other (25%), and Epidemiology / Natural History (25%).

Recent Publications

Stehr AM (2025). [PMID: 39367743](https://pubmed.ncbi.nlm.nih.gov/39367743/). *Clin Genet*. [Basic Science / Preclinical]
Li S (2025). [PMID: 40527596](https://pubmed.ncbi.nlm.nih.gov/40527596/). *J Med Genet*. [Basic Science / Preclinical]
Wang B (2025). [PMID: 40574301](https://pubmed.ncbi.nlm.nih.gov/40574301/). *Noise Health*. [Epidemiology / Natural History]
de Muijnck C (2024). [PMID: 39363032](https://pubmed.ncbi.nlm.nih.gov/39363032/). *Sci Rep*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619804

Questions for Your Care Team

→Should I pursue genetic testing for ATP2B2, 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?

← Back to All Diseases

hearing loss, autosomal dominant 82

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team