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hearing loss, autosomal dominant 81 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 81

MONDO:0030549

Also known as:DFNA81deafness, autosomal dominant 81

Overview

GeneticsAutosomal dominant · ELMOD3 (chr 2)

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). 2 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

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ELMOD3 encodes ELMO domain containing 3 (381 aa). Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity Highest expression in Adipose Subcutaneous (36.9 TPM) and Breast Mammary Tissue (26.7 TPM).

Hearing loss, autosomal dominant 81 is associated with mutations in the ELMOD3 gene on chromosome 2.

ELMOD3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ELMOD3 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 81.

2 publications have been identified in PubMed for hearing loss, autosomal dominant 81. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

Kato A (2025). [PMID: 40889065](https://pubmed.ncbi.nlm.nih.gov/40889065/). *CEN Case Rep*. [Case Report / Case Series]
Lin AE (2024). [PMID: 38779990](https://pubmed.ncbi.nlm.nih.gov/38779990/). *Am J Med Genet A*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619500

Questions for Your Care Team

→Should I pursue genetic testing for ELMOD3, 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 81

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team