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hearing loss, autosomal dominant 79 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 79

MONDO:0033668

Also known as:DFNA79deafness, autosomal dominant 79

Overview

GeneticsAutosomal dominant · SCD5 (chr 4)

OnsetADULT

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: Progressive sensorineural hearing impairment. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Progressive sensorineural hearing impairment

Age of onset: adulthood.

Explore clinical features

Genetic Landscape

SCD5 function has not been fully characterized.

Hearing loss, autosomal dominant 79 is associated with mutations in the SCD5 gene on chromosome 4.

Diagnosis

Genetic testing for SCD5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619086

GARD

Genetic and Rare Diseases Info Center

GARD:18157

Questions for Your Care Team

→Should I pursue genetic testing for SCD5, 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 79

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team