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hearing loss, autosomal dominant 86 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 86

MONDO:0859524

Overview

GeneticsAutosomal dominant · THOC1 (chr 18)

OnsetADULT

ResearchLimited published research (2 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) and Tinnitus. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	3	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment), Tinnitus

Age of onset: adulthood.

Genetic Landscape

THOC1 function has not been fully characterized.

Hearing loss, autosomal dominant 86 is associated with mutations in the THOC1 gene on chromosome 18.

Diagnosis

Genetic testing for THOC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 hearing loss, autosomal dominant 86.

3 publications have been identified in PubMed for hearing loss, autosomal dominant 86. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

Richa (2025). [PMID: 40171048](https://pubmed.ncbi.nlm.nih.gov/40171048/). *Case Rep Dermatol*. [Case Report / Case Series]
Ouyang G (2024). [PMID: 39058882](https://pubmed.ncbi.nlm.nih.gov/39058882/). *Medicine (Baltimore)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620280

Questions for Your Care Team

→Should I pursue genetic testing for THOC1, 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 86

Overview

Clinical Presentation

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

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