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hearing loss, autosomal recessive 117 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 117

MONDO:0030905

Also known as:DFNB117deafness, autosomal recessive 117

Overview

GeneticsAutosomal recessive · CLRN2 (chr 4)

OnsetCHILDHOOD

ResearchLimited published research (1 article)

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). 2 total HPO annotations.

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

Age of onset: childhood.

Explore clinical features

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.

CLRN2 encodes clarin 2 (232 aa). Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction Highest expression in Testis (0.3 TPM) and Brain Cerebellar Hemisphere (0.1 TPM).

Hearing loss, autosomal recessive 117 is associated with mutations in the CLRN2 gene on chromosome 4.

CLRN2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CLRN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present 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 117.

1 publication has been identified in PubMed for hearing loss, autosomal recessive 117. Research spans Review / Meta-Analysis (100%).

Recent Publications

Elbagoury NM (2025). [PMID: 40858759](https://pubmed.ncbi.nlm.nih.gov/40858759/). *Eur J Pediatr*. [Review / Meta-Analysis]

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619174

GARD

Genetic and Rare Diseases Info Center

GARD:22665

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 117

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team