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autosomal dominant nonsyndromic hearing loss 67 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 67

MONDO:0014594

Also known as:DFNA67OSBPL2 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 67

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.

GeneticsAutosomal dominant · OSBPL2 (chr 20)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment) and Tinnitus.

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

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.

OSBPL2 encodes oxysterol binding protein like 2 (480 aa). Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments. Highest expression in Brain Cerebellar Hemisphere (53.2 TPM) and Brain Cerebellum (52.3 TPM).

Autosomal dominant nonsyndromic hearing loss 67 is associated with mutations in the OSBPL2 gene on chromosome 20.

OSBPL2 is classified as a druggable target 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 OSBPL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 67 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 dominant nonsyndromic hearing loss 67.

4 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 67. Research spans Diagnostic / Biomarker (25%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Recent Publications

Huynh BC (2026). [PMID: 41845931](https://pubmed.ncbi.nlm.nih.gov/41845931/). *Ophthalmic genetics*. [Gene Therapy / Novel Therapeutics]
Wang W (2025). [PMID: 40389765](https://pubmed.ncbi.nlm.nih.gov/40389765/). *Journal of assisted reproduction and genetics*. [Diagnostic / Biomarker]
Kotmayer L (2025). [PMID: 40664679](https://pubmed.ncbi.nlm.nih.gov/40664679/). *Blood cancer journal*. [Epidemiology / Natural History]
Gu XN (2025). [PMID: 41017354](https://pubmed.ncbi.nlm.nih.gov/41017354/). *Zhonghua yi xue za zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616340

GARD

Genetic and Rare Diseases Info Center

GARD:18141

Questions for Your Care Team

→Should I pursue genetic testing for OSBPL2, and what would the results mean for my family?
→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 dominant nonsyndromic hearing loss 67

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