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autosomal recessive nonsyndromic hearing loss 93 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 93

MONDO:0013963

Also known as:CABP2 autosomal recessive nonsyndromic deafnessDFNB93autosomal recessive deafness 93

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.

GeneticsAutosomal recessive · CABP2 (chr 11)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Hearing loss (hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Hearing loss (hearing impairment)

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.

CABP2 encodes calcium binding protein 2 (220 aa). Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs. Highest expression in Testis (0.1 TPM) and Kidney Medulla (0.0 TPM).

Autosomal recessive nonsyndromic hearing loss 93 is associated with mutations in the CABP2 gene on chromosome 11.

CABP2 is classified as a druggable target (Kinase category) with score 0.0.

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 CABP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 93 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 93.

5 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 93. Research spans Diagnostic / Biomarker (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *Eur Arch Otorhinolaryngol*. [Diagnostic / Biomarker]
Tsuji RK (2025). [PMID: 39442262](https://pubmed.ncbi.nlm.nih.gov/39442262/). *Braz J Otorhinolaryngol*. [Review / Meta-Analysis]
Wang W (2025). [PMID: 40389765](https://pubmed.ncbi.nlm.nih.gov/40389765/). *J Assist Reprod Genet*. [Diagnostic / Biomarker]
Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]
Parekh B (2024). [PMID: 38833260](https://pubmed.ncbi.nlm.nih.gov/38833260/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614899

GARD

Genetic and Rare Diseases Info Center

GARD:22645

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 93

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team