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autosomal dominant nonsyndromic hearing loss 49 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 49

MONDO:0012023

Also known as:DFNA49autosomal dominant deafness 49autosomal dominant nonsyndromic deafness 49

Overview

An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.

GeneticsAutosomal dominant

ResearchLimited published research (6 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: Inner ear hearing loss (sensorineural hearing impairment) and Progressive hearing impairment.

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

Explore clinical features

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 49.

6 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 49. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (17%).

Recent Publications

Kim JA (2026). [PMID: 41619855](https://pubmed.ncbi.nlm.nih.gov/41619855/). *Mol Cells*. [Basic Science / Preclinical]
Govindan A (2025). [PMID: 39624921](https://pubmed.ncbi.nlm.nih.gov/39624921/). *Otolaryngol Head Neck Surg*. [Review / Meta-Analysis]
Wu KL (2025). [PMID: 40413265](https://pubmed.ncbi.nlm.nih.gov/40413265/). *Sci Rep*. [Basic Science / Preclinical]
Yang Y (2025). [PMID: 40583560](https://pubmed.ncbi.nlm.nih.gov/40583560/). *Hum Mol Genet*. [Basic Science / Preclinical]
Riahi Z (2025). [PMID: 41359850](https://pubmed.ncbi.nlm.nih.gov/41359850/). *Proc Natl Acad Sci U S A*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608372

GARD

Genetic and Rare Diseases Info Center

GARD:18122

Questions for Your Care Team

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autosomal dominant nonsyndromic hearing loss 49

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team