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auditory neuropathy, autosomal dominant 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auditory neuropathy, autosomal dominant 3

MONDO:0859235

Overview

GeneticsAutosomal dominant · TMEM43 (chr 3)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Hearing loss (hearing impairment) and Abnormal speech discrimination.

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)
Brain and nerves	1	Abnormal speech discrimination

Explore clinical features

Genetic Landscape

TMEM43 function has not been fully characterized.

Auditory neuropathy, autosomal dominant 3 is associated with mutations in the TMEM43 gene on chromosome 3.

Diagnosis

Genetic testing for TMEM43 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 auditory neuropathy, autosomal dominant 3.

5 publications have been identified in PubMed for auditory neuropathy, autosomal dominant 3. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Recent Publications

Kawakita M (2026). [PMID: 41898875](https://pubmed.ncbi.nlm.nih.gov/41898875/). *Genes (Basel)*. [Epidemiology / Natural History]
Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Clinical Trial Publication]
Lalaguna L (2025). [PMID: 40091736](https://pubmed.ncbi.nlm.nih.gov/40091736/). *Circ Res*. [Basic Science / Preclinical]
Kang X (2024). [PMID: 39834515](https://pubmed.ncbi.nlm.nih.gov/39834515/). *Front Mol Neurosci*. [Basic Science / Preclinical]
Chhajed M (2024). [PMID: 38721572](https://pubmed.ncbi.nlm.nih.gov/38721572/). *J Pediatr Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619832

Questions for Your Care Team

→Should I pursue genetic testing for TMEM43, 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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Kisho

auditory neuropathy, autosomal dominant 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Temperature-sensitive auditory neuropathy: long-term follow-up and genotypic correlation.

auditory neuropathy, autosomal dominant 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Temperature-sensitive auditory neuropathy: long-term follow-up and genotypic correlation.