Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive nonsyndromic hearing loss 53 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 53

MONDO:0012333

Also known as:COL11A2 autosomal recessive nonsyndromic deafnessDFNB53autosomal recessive deafness 53

Overview

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

GeneticsAutosomal recessive · COL11A2 (chr 6)

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)

Explore clinical features

Genetic Landscape

COL11A2 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 53 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 recessive nonsyndromic hearing loss 53 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 recessive nonsyndromic hearing loss 53.

11 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 53. Research spans Case Report / Case Series (45%), Diagnostic / Biomarker (18%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609706

GARD

Genetic and Rare Diseases Info Center

GARD:22616

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?

← Back to All Diseases

autosomal recessive nonsyndromic hearing loss 53

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications