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hearing loss, autosomal dominant 37 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 37

MONDO:0032802

Also known as:DEAFNESS, AUTOSOMAL DOMINANT 37DFNA37

Overview

GeneticsAutosomal dominant · COL11A1 (chr 1)

OnsetINFANTILE

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment).

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

Age of onset: infancy.

Explore clinical features

Genetic Landscape

COL11A1 function has not been fully characterized.

Hearing loss, autosomal dominant 37 is associated with mutations in the COL11A1 gene on chromosome 1.

Diagnosis

Genetic testing for COL11A1 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 hearing loss, autosomal dominant 37.

5 publications have been identified in PubMed for hearing loss, autosomal dominant 37. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Clinical Trial Publication (20%).

Recent Publications

Celik VD (2026). [PMID: 41940405](https://pubmed.ncbi.nlm.nih.gov/41940405/). *Mol Syndromol*. [Clinical Trial Publication]
Savige J (2026). [PMID: 42172079](https://pubmed.ncbi.nlm.nih.gov/42172079/). *J Am Soc Nephrol*. [Review / Meta-Analysis]
Peschaut T (2025). [PMID: 39981533](https://pubmed.ncbi.nlm.nih.gov/39981533/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Buianova AA (2024). [PMID: 39684270](https://pubmed.ncbi.nlm.nih.gov/39684270/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 11:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618533

Questions for Your Care Team

→Should I pursue genetic testing for COL11A1, 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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hearing loss, autosomal dominant 37

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