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Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.
Features include: Abnormal vestibulocochlear nerve morphology, Vertigo, Cochlear degeneration, and Postlingual sensorineural hearing impairment and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 5 | Abnormal vestibulocochlear nerve morphology, Vertigo, Cochlear degeneration |
COCH encodes cochlin (550 aa). Plays a role in the control of cell shape and motility in the trabecular meshwork Highest expression in Brain Nucleus accumbens basal ganglia (51.8 TPM) and Brain Caudate basal ganglia (37.3 TPM).
Autosomal dominant nonsyndromic hearing loss 9 is associated with mutations in the COCH gene on chromosome 14.
The COCH protein participates in Unknown NAT transfers COCH3 to AFXBO-C, AFNBO-C, Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell, and Sensory processing of sound by outer hair cells of the cochlea pathways.
COCH is classified as a druggable target (Druggable Genome and Transporter categories) with score 1.3.
Genetic testing for COCH is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 9 has been reported in the published literature.
No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 9.
19 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 9. Research spans Case Report / Case Series (24%), Basic Science / Preclinical (24%), and Diagnostic / Biomarker (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 24% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Laboratory research
4 |
24% |
Testing and diagnosis research | 3 | 18% |
Research summaries | 3 | 18% |
Disease patterns and progression | 3 | 18% |
Pollinger L (2026). [PMID: 41799362](https://pubmed.ncbi.nlm.nih.gov/41799362/). *Kidney Int Rep*. [Case Report / Case Series]
DeSollar B (2026). [PMID: 41979979](https://pubmed.ncbi.nlm.nih.gov/41979979/). *JMIR Bioinform Biotechnol*. [Diagnostic / Biomarker]
Levergood NR (2025). [PMID: 41411089](https://pubmed.ncbi.nlm.nih.gov/41411089/). *J Neuroophthalmol*. [Epidemiology / Natural History]
van de Berg R (2025). [PMID: 39743754](https://pubmed.ncbi.nlm.nih.gov/39743754/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]
Leduc F (2025). [PMID: 40348827](https://pubmed.ncbi.nlm.nih.gov/40348827/). *Eur J Hum Genet*. [Review / Meta-Analysis]
Guan J (2025). [PMID: 40068948](https://pubmed.ncbi.nlm.nih.gov/40068948/). *Yi Chuan*. [Diagnostic / Biomarker]
Hou F (2025). [PMID: 40879289](https://pubmed.ncbi.nlm.nih.gov/40879289/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Moyaert J (2025). [PMID: 40088601](https://pubmed.ncbi.nlm.nih.gov/40088601/). *Hear Res*. [Epidemiology / Natural History]
Kurasawa S (2025). [PMID: 39831886](https://pubmed.ncbi.nlm.nih.gov/39831886/). *FASEB J*. [Basic Science / Preclinical]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
AI-curated news mentioning autosomal dominant nonsyndromic hearing loss 9
Updated May 21, 2026
A study published in PubMed identifies novel variants associated with COCH-related hearing loss in a French cohort, enhancing understanding of genotype-phenotype correlations. This research could inform future genetic testing and therapeutic strategies for affected individuals.