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hearing loss, autosomal dominant 76 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 76

MONDO:0032917

Also known as:DEAFNESS, AUTOSOMAL DOMINANT 76DFNA76

Overview

GeneticsAutosomal dominant · PLS1 (chr 3)

ResearchLimited published research (3 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). 4 total HPO annotations.

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

Explore clinical features

Genetic Landscape

PLS1 function has not been fully characterized.

Hearing loss, autosomal dominant 76 is associated with mutations in the PLS1 gene on chromosome 3.

Diagnosis

Genetic testing for PLS1 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 dominant 76.

3 publications have been identified in PubMed for hearing loss, autosomal dominant 76. Research spans Case Report / Case Series (67%) and Epidemiology / Natural History (33%).

Recent Publications

González-Aguado R (2025). [PMID: 40651568](https://pubmed.ncbi.nlm.nih.gov/40651568/). *Acta Otorrinolaringol Esp (Engl Ed)*. [Epidemiology / Natural History]
Valenciaga A (2025). [PMID: 39822657](https://pubmed.ncbi.nlm.nih.gov/39822657/). *JCEM Case Rep*. [Case Report / Case Series]
González-Aguado R (2025). [PMID: 40120934](https://pubmed.ncbi.nlm.nih.gov/40120934/). *Acta Otorrinolaringol Esp (Engl Ed)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618787

GARD

Genetic and Rare Diseases Info Center

GARD:18154

Questions for Your Care Team

→Should I pursue genetic testing for PLS1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hearing loss, autosomal dominant 76

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