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hearing loss, autosomal recessive 110 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 110

MONDO:0054860

Also known as:DFNB110deafness, autosomal recessive 110

Overview

GeneticsAutosomal recessive · COCH (chr 14)

OnsetCONGENITAL

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 common findings: Abnormal vestibular function.

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

Age of onset: at birth.

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.

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).

Hearing loss, autosomal recessive 110 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.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common 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 recessive 110.

4 publications have been identified in PubMed for hearing loss, autosomal recessive 110. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Miolo G (2025). [PMID: 40040362](https://pubmed.ncbi.nlm.nih.gov/40040362/). *J Audiol Otol*. [Case Report / Case Series]
Matzer M (2025). [PMID: 41048689](https://pubmed.ncbi.nlm.nih.gov/41048689/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Ren L (2024). [PMID: 38980994](https://pubmed.ncbi.nlm.nih.gov/38980994/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Li J (2024). [PMID: 39640791](https://pubmed.ncbi.nlm.nih.gov/39640791/). *Heliyon*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618094

GARD

Genetic and Rare Diseases Info Center

GARD:18150

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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hearing loss, autosomal recessive 110

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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