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autosomal recessive nonsyndromic hearing loss 103 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 103

MONDO:0014469

Also known as:CLIC5 autosomal recessive nonsyndromic deafnessDFNB103autosomal recessive deafness 103

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.

GeneticsAutosomal recessive · CLIC5 (chr 6)

ResearchLimited published research (3 articles)

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: Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment), and Vestibular areflexia.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment), Vestibular areflexia

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.

CLIC5 encodes chloride intracellular channel 5 (410 aa). In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Highest expression in Muscle Skeletal (66.5 TPM) and Heart Left Ventricle (41.7 TPM).

Autosomal recessive nonsyndromic hearing loss 103 is associated with mutations in the CLIC5 gene on chromosome 6.

CLIC5 is classified as a druggable target (Ion Channel and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for CLIC5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

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 103.

3 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 103. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Pshennikova VG (2026). [PMID: 40957967](https://pubmed.ncbi.nlm.nih.gov/40957967/). *J Hum Genet*. [Basic Science / Preclinical]
Hahn R (2025). [PMID: 40859056](https://pubmed.ncbi.nlm.nih.gov/40859056/). *EMBO Mol Med*. [Gene Therapy / Novel Therapeutics]
Zhang L (2024). [PMID: 39556694](https://pubmed.ncbi.nlm.nih.gov/39556694/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616042

GARD

Genetic and Rare Diseases Info Center

GARD:22653

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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autosomal recessive nonsyndromic hearing loss 103

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

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