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hearing loss, autosomal recessive 109 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 109

MONDO:0033202

Also known as:DFNB109deafness, autosomal recessive 109

Overview

GeneticsAutosomal recessive · ESRP1 (chr 8)

OnsetCONGENITAL

ResearchLimited published research (4 articles)

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: Abnormal semicircular canal morphology and Congenital sensorineural hearing impairment. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Absent vestibular function, Congenital sensorineural hearing impairment

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.

ESRP1 encodes epithelial splicing regulatory protein 1 (681 aa). mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Highest expression in Esophagus Mucosa (83.1 TPM) and Skin Not Sun Exposed Suprapubic (78.2 TPM).

Hearing loss, autosomal recessive 109 is associated with mutations in the ESRP1 gene on chromosome 8.

The ESRP1 protein participates in ESRP1(1-606)-p-RAF1(227-648) fusion, ESRP1(1-606)-RAF1(227-648) fusion, and FGFR2b-specific alternative splicing produces FGFR2b transcript pathways.

ESRP1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ESRP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

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 recessive 109.

4 publications have been identified in PubMed for hearing loss, autosomal recessive 109. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Matheou M (2026). [PMID: 41163431](https://pubmed.ncbi.nlm.nih.gov/41163431/). *Clin Genet*. [Case Report / Case Series]
Marinakis NM (2026). [PMID: 40550703](https://pubmed.ncbi.nlm.nih.gov/40550703/). *Clin Genet*. [Case Report / Case Series]
Sánchez CMD (2026). [PMID: 41052910](https://pubmed.ncbi.nlm.nih.gov/41052910/). *Clin Genet*. [Case Report / Case Series]
Uwibambe E (2025). [PMID: 40149409](https://pubmed.ncbi.nlm.nih.gov/40149409/). *Genes (Basel)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618013

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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hearing loss, autosomal recessive 109

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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