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hearing loss, autosomal dominant 72 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 72

MONDO:0033259

Also known as:DFNA72autosomal dominant nonsyndromic deafness 72deafness, autosomal dominant 72

Overview

GeneticsAutosomal dominant · SLC44A4 (chr 6)

ResearchLimited published research (8 articles)

Clinical Presentation

Features include: Inner ear hearing loss (sensorineural hearing impairment) and Tinnitus.

Organ System	Phenotype Count	Example Features
Ears	2	Inner ear hearing loss (sensorineural hearing impairment), Tinnitus

Explore clinical features

Genetic Landscape

SLC44A4 function has not been fully characterized.

Hearing loss, autosomal dominant 72 is associated with mutations in the SLC44A4 gene on chromosome 6.

Diagnosis

Genetic testing for SLC44A4 is available. Testing is considered confirmatory for diagnosis.

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 72.

9 publications have been identified in PubMed for hearing loss, autosomal dominant 72. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Senjab A (2026). [PMID: 41917973](https://pubmed.ncbi.nlm.nih.gov/41917973/). *J Med Case Rep*. [Case Report / Case Series]
Ward KS (2026). [PMID: 40488457](https://pubmed.ncbi.nlm.nih.gov/40488457/). *Brain*. [Basic Science / Preclinical]
Huang Q (2026). [PMID: 42251442](https://pubmed.ncbi.nlm.nih.gov/42251442/). *J Med Case Rep*. [Case Report / Case Series]
Finsterer J (2026). [PMID: 42403858](https://pubmed.ncbi.nlm.nih.gov/42403858/). *Cureus*. [Case Report / Case Series]
Ates K (2026). [PMID: 42204957](https://pubmed.ncbi.nlm.nih.gov/42204957/). *Dev Neurobiol*. [Review / Meta-Analysis]
Kashiwagi Y (2026). [PMID: 42347069](https://pubmed.ncbi.nlm.nih.gov/42347069/). *Pediatr Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617606

GARD

Genetic and Rare Diseases Info Center

GARD:18148

Questions for Your Care Team

→Should I pursue genetic testing for SLC44A4, 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 72

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team