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autosomal dominant nonsyndromic hearing loss 51 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 51

MONDO:0013305

Also known as:chromosome 9q21.11 duplication syndromeDFNA51autosomal dominant deafness 51

Overview

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.

GeneticsAutosomal dominant

Clinical Presentation

Features include: Hearing loss (hearing impairment).

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

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Diagnosis

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 51 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 51.

102 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 51. Kisho has analyzed 81 by research type. Research spans Basic Science / Preclinical (30%), Case Report / Case Series (27%), and Review / Meta-Analysis (25%).

Research Type	Count	% of Total
Laboratory research	24	30%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613558

GARD

Genetic and Rare Diseases Info Center

GARD:18133

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autosomal dominant nonsyndromic hearing loss 51

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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