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autosomal dominant nonsyndromic hearing loss 54 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 54

MONDO:0014291

Also known as:DFNA54autosomal dominant deafness 54autosomal dominant nonsyndromic deafness 54

Overview

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.

GeneticsAutosomal dominant

ResearchLimited published research (3 articles)

Clinical Presentation

Features include: Hearing loss (hearing impairment).

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

Explore clinical features

Diagnosis

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 54 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 54.

3 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 54. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

van de Berg R (2025). [PMID: 39743754](https://pubmed.ncbi.nlm.nih.gov/39743754/). *J Otolaryngol Head Neck Surg*. [Diagnostic / Biomarker]
Kouzuki K (2025). [PMID: 40434572](https://pubmed.ncbi.nlm.nih.gov/40434572/). *Int J Hematol*. [Basic Science / Preclinical]
Gong GQ (2025). [PMID: 40052770](https://pubmed.ncbi.nlm.nih.gov/40052770/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615649

GARD

Genetic and Rare Diseases Info Center

GARD:18138

Questions for Your Care Team

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autosomal dominant nonsyndromic hearing loss 54

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team