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hearing loss, autosomal recessive 116 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 116

MONDO:0033670

Also known as:DFNB116deafness, autosomal recessive 116

Overview

GeneticsAutosomal recessive · CLDN9 (chr 16)

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). 3 total HPO annotations.

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

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.

CLDN9 encodes claudin 9 (217 aa). Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity Highest expression in Pituitary (46.7 TPM) and Brain Cerebellum (46.5 TPM).

Hearing loss, autosomal recessive 116 is associated with mutations in the CLDN9 gene on chromosome 16.

CLDN9 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CLDN9 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 116.

2 publications have been identified in PubMed for hearing loss, autosomal recessive 116. Kisho has analyzed 1 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

Gokul PR (2025). [PMID: 39751914](https://pubmed.ncbi.nlm.nih.gov/39751914/). *Calcif Tissue Int*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619093

GARD

Genetic and Rare Diseases Info Center

GARD:22664

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 116

Overview

Clinical Presentation

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

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