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hearing loss, autosomal recessive 113 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 113

MONDO:0032732

Also known as:DFNB113deafness, autosomal recessive 113

Overview

GeneticsAutosomal recessive · CEACAM16 (chr 19)

OnsetJUVENILE

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: adolescence.

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.

CEACAM16 encodes CEA cell adhesion molecule 16, tectorial membrane component (425 aa). Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane Highest expression in Pancreas (0.5 TPM) and Adrenal Gland (0.4 TPM).

Hearing loss, autosomal recessive 113 is associated with mutations in the CEACAM16 gene on chromosome 19.

CEACAM16 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CEACAM16 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 113.

2 publications have been identified in PubMed for hearing loss, autosomal recessive 113. Kisho has analyzed 1 by research type. Research spans Epidemiology / Natural History (100%).

Recent Publications

Maekawa K (2025). [PMID: 39858639](https://pubmed.ncbi.nlm.nih.gov/39858639/). *Genes (Basel)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618410

GARD

Genetic and Rare Diseases Info Center

GARD:18152

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 113

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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