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autosomal dominant nonsyndromic hearing loss 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 25

MONDO:0011568

Also known as:DFNA25SLC17A8 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 25

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.

GeneticsAutosomal dominant · SLC17A8 (chr 12)

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

SLC17A8 function has not been fully characterized.

Autosomal dominant nonsyndromic hearing loss 25 is associated with mutations in the SLC17A8 gene on chromosome 12.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SLC17A8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 25 has been reported in the published literature.

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 autosomal dominant nonsyndromic hearing loss 25.

13 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 25. Research spans Review / Meta-Analysis (64%), Diagnostic / Biomarker (9%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Research summaries	7	64%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605583

GARD

Genetic and Rare Diseases Info Center

GARD:18112

Questions for Your Care Team

→Should I pursue genetic testing for SLC17A8, 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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autosomal dominant nonsyndromic hearing loss 25

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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