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hearing loss, autosomal dominant 78 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 78

MONDO:0033665

Also known as:DFNA78deafness, autosomal dominant 78

Overview

GeneticsAutosomal dominant · SLC12A2 (chr 5)

OnsetINFANTILE, CONGENITAL

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 always present findings: Profound sensorineural hearing impairment; and sometimes findings: Motor delay. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Global developmental delay
Ears

Genetic Landscape

SLC12A2 function has not been fully characterized.

Hearing loss, autosomal dominant 78 is associated with mutations in the SLC12A2 gene on chromosome 5.

Diagnosis

Genetic testing for SLC12A2 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 78.

7 publications have been identified in PubMed for hearing loss, autosomal dominant 78. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).

Recent Publications

Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]
Liu C (2025). [PMID: 41000418](https://pubmed.ncbi.nlm.nih.gov/41000418/). *Front Genet*. [Epidemiology / Natural History]
Ferroul F (2025). [PMID: 41005613](https://pubmed.ncbi.nlm.nih.gov/41005613/). *Eur J Med Genet*. [Case Report / Case Series]
Nayak Manel D (2025). [PMID: 40016832](https://pubmed.ncbi.nlm.nih.gov/40016832/). *J Med Case Rep*. [Review / Meta-Analysis]
Lujinschi ȘN (2025). [PMID: 40003707](https://pubmed.ncbi.nlm.nih.gov/40003707/). *Life (Basel)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619081

GARD

Genetic and Rare Diseases Info Center

GARD:18156

Questions for Your Care Team

→Should I pursue genetic testing for SLC12A2, 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 78

Overview

Clinical Presentation

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

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