autosomal dominant auditory neuropathy 1
Findings
No curated finding names autosomal dominant auditory neuropathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012196), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal auditory evoked potentialsHPOHP:0006958
- Abnormal speech discriminationHPOHP:0001963
- Absence of acoustic reflexHPOHP:0008529
- Sensorineural hearing impairmentHPOHP:0000407
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DIAPH3HGNC:15480
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: autosomal dominant auditory neuropathy 1
- Also called
- auditory neuropathy caused by mutation in DIAPH3auditory neuropathy, autosomal dominant, type 1AUNA1autosomal dominant auditory neuropathy type 1DIAPH3 auditory neuropathyNSDAN