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autosomal recessive nonsyndromic hearing loss 102 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 102

MONDO:0014428

Also known as:DFNB102EPS8 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 102

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.

GeneticsAutosomal recessive · EPS8 (chr 12)

Clinical Presentation

Features include: Profound hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Profound hearing impairment

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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.

EPS8 encodes EGFR pathway substrate 8, signaling adaptor (822 aa). Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Highest expression in Artery Tibial (170.1 TPM) and Cells Cultured fibroblasts (161.3 TPM).

Autosomal recessive nonsyndromic hearing loss 102 has been associated with mutations in the EPS8 gene on chromosome 12.

EPS8 is classified as a druggable target (Kinase category) with score 2.5.

Diagnosis

Genetic testing for EPS8 is available. Testing is considered supportive for diagnosis.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615974

GARD

Genetic and Rare Diseases Info Center

GARD:22652

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 recessive nonsyndromic hearing loss 102

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team