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hearing loss, autosomal dominant 85 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 85

MONDO:0859366

Also known as:deafness, autosomal dominant 85

Overview

GeneticsAutosomal dominant · USP48 (chr 1)

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 very common findings: Inner ear hearing loss (sensorineural hearing impairment); and sometimes findings: Cochlear nerve hypoplasia.

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

Explore clinical features

Genetic Landscape

USP48 function has not been fully characterized.

Hearing loss, autosomal dominant 85 is associated with mutations in the USP48 gene on chromosome 1.

Diagnosis

Genetic testing for USP48 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common 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 85.

4 publications have been identified in PubMed for hearing loss, autosomal dominant 85. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Jazayeri O (2025). [PMID: 41147426](https://pubmed.ncbi.nlm.nih.gov/41147426/). *Int J Dev Neurosci*. [Case Report / Case Series]
Wang J (2025). [PMID: 40328247](https://pubmed.ncbi.nlm.nih.gov/40328247/). *Mol Cell*. [Basic Science / Preclinical]
Wang H (2025). [PMID: 41107984](https://pubmed.ncbi.nlm.nih.gov/41107984/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620227

Questions for Your Care Team

→Should I pursue genetic testing for USP48, 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 85

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team