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autosomal dominant nonsyndromic hearing loss 53 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 53

MONDO:0012380

Also known as:DFNA53autosomal dominant deafness 53autosomal dominant nonsyndromic deafness 53

Overview

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.

GeneticsAutosomal dominant

OnsetJUVENILE

ResearchLimited published research (4 articles)

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.

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 autosomal dominant nonsyndromic hearing loss 53.

4 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 53. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Tian Y (2026). [PMID: 41398921](https://pubmed.ncbi.nlm.nih.gov/41398921/). *Int J Immunogenet*. [Review / Meta-Analysis]
Yuan Q (2026). [PMID: 41539473](https://pubmed.ncbi.nlm.nih.gov/41539473/). *J Genet Genomics*. [Basic Science / Preclinical]
Gu XN (2025). [PMID: 41017354](https://pubmed.ncbi.nlm.nih.gov/41017354/). *Zhonghua Yi Xue Za Zhi*. [Review / Meta-Analysis]
Nam J (2024). [PMID: 39597783](https://pubmed.ncbi.nlm.nih.gov/39597783/). *J Clin Med*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609965

GARD

Genetic and Rare Diseases Info Center

GARD:9934

Questions for Your Care Team

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autosomal dominant nonsyndromic hearing loss 53

Overview

Clinical Presentation

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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