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autosomal dominant nonsyndromic hearing loss 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 13

MONDO:0011159

Also known as:COL11A2 autosomal dominant nonsyndromic deafnessDFNA13autosomal dominant deafness 13

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.

GeneticsAutosomal dominant · COL11A2 (chr 6)

OnsetCONGENITAL

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: at birth.

Explore clinical features

Genetic Landscape

COL11A2 function has not been fully characterized.

Autosomal dominant nonsyndromic hearing loss 13 is associated with mutations in the COL11A2 gene on chromosome 6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for COL11A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 13 has been reported in the published literature.

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 nonsyndromic hearing loss 13.

18 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 13. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (35%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Laboratory research	7	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601868

GARD

Genetic and Rare Diseases Info Center

GARD:18108

Questions for Your Care Team

→Should I pursue genetic testing for COL11A2, 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 nonsyndromic hearing loss 13

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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