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autosomal dominant auditory neuropathy 1 (AUNA1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant auditory neuropathy 1

MONDO:0012196

Also known as:AUNA1DIAPH3 auditory neuropathyNSDAN

Overview

Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.

GeneticsAutosomal dominant · DIAPH3 (chr 13)

ResearchLimited published research (5 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: Absence of acoustic reflex, Abnormal auditory evoked potentials, Inner ear hearing loss (sensorineural hearing impairment), and Abnormal speech discrimination.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)

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.

DIAPH3 encodes diaphanous related formin 3 (1,193 aa). Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Highest expression in Testis (20.9 TPM) and Cells EBV-transformed lymphocytes (15.0 TPM).

Autosomal dominant auditory neuropathy 1 is associated with mutations in the DIAPH3 gene on chromosome 13.

The DIAPH3 protein participates in RHOB:GTP recruits DIAPH1 or DIAPH3 to endosomes pathway.

DIAPH3 is classified as a druggable target (Kinase category) with score 2.3.

Diagnosis

Genetic testing for DIAPH3 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 auditory neuropathy 1.

5 publications have been identified in PubMed for autosomal dominant auditory neuropathy 1. Research spans Case Report / Case Series (40%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Recent Publications

Zeng L (2026). [PMID: 41511813](https://pubmed.ncbi.nlm.nih.gov/41511813/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Wang H (2025). [PMID: 41107984](https://pubmed.ncbi.nlm.nih.gov/41107984/). *Orphanet journal of rare diseases*. [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 = Chinese journal of otorhinolaryngology head and neck surgery*. [Clinical Trial Publication]
Miolo G (2025). [PMID: 40040362](https://pubmed.ncbi.nlm.nih.gov/40040362/). *Journal of audiology & otology*. [Case Report / Case Series]
Qiu C (2024). [PMID: 39322015](https://pubmed.ncbi.nlm.nih.gov/39322015/). *The Journal of biological chemistry*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609129

GARD

Genetic and Rare Diseases Info Center

GARD:18127

Questions for Your Care Team

→Should I pursue genetic testing for DIAPH3, 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 auditory neuropathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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