Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hearing loss, autosomal recessive 112 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 112

MONDO:0032639

Also known as:DFNB112deafness, autosomal recessive 112

Overview

GeneticsAutosomal recessive · BDP1 (chr 5)

ResearchLimited published research (1 article)

Clinical Presentation

Features include always present findings: Inner ear hearing loss (sensorineural hearing impairment).

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural 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.

BDP1 encodes BDP1 general transcription factor IIIB subunit (2,624 aa). General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters.

Hearing loss, autosomal recessive 112 is associated with mutations in the BDP1 gene on chromosome 5.

The BDP1 protein participates in RNA Polymerase III Transcription pathway.

BDP1 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for BDP1 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 112.

1 publication has been identified in PubMed for hearing loss, autosomal recessive 112. Research spans Epidemiology / Natural History (100%).

Recent Publications

Huang Y (2025). [PMID: 41466426](https://pubmed.ncbi.nlm.nih.gov/41466426/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618257

GARD

Genetic and Rare Diseases Info Center

GARD:18377

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?

← Back to All Diseases

hearing loss, autosomal recessive 112

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

Questions for Your Care Team