Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal dominant nonsyndromic hearing loss 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 10

MONDO:0011031

Also known as:DFNA10EYA4 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 10

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.

GeneticsAutosomal dominant · EYA4 (chr 6)

Clinical Presentation

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

Organ System	Phenotype Count	Example Features
Ears	1	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.

EYA4 encodes EYA transcriptional coactivator and phosphatase 4 (639 aa). Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). Highest expression in Muscle Skeletal (16.8 TPM) and Prostate (5.9 TPM).

Autosomal dominant nonsyndromic hearing loss 10 is associated with mutations in the EYA4 gene on chromosome 6.

EYA4 is classified as a druggable target (Dna Repair and Enzyme categories) with score 2.5.

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 EYA4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 10 has been reported in the published literature.

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 10.

18 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 10. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	9	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601316

GARD

Genetic and Rare Diseases Info Center

GARD:18103

Questions for Your Care Team

→Should I pursue genetic testing for EYA4, 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?

← Back to All Diseases

autosomal dominant nonsyndromic hearing loss 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications