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autosomal recessive nonsyndromic hearing loss 36 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 36

MONDO:0012170

Also known as:deafness, neurosensory, without vestibular involvement, autosomal dominantDFNB36ESPN autosomal recessive nonsyndromic deafness

Overview

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

GeneticsAutosomal recessive · ESPN (chr 1)

OnsetINFANTILE

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: Inner ear hearing loss (sensorineural hearing impairment) and Vestibular areflexia.

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

Age of onset: infancy.

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.

ESPN encodes espin (854 aa). Multifunctional actin-bundling protein. Highest expression in Testis (79.6 TPM) and Skin Not Sun Exposed Suprapubic (28.7 TPM).

Autosomal recessive nonsyndromic hearing loss 36 is associated with mutations in the ESPN gene on chromosome 1.

ESPN is classified as a druggable target with score 0.0.

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 ESPN is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 36 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 recessive nonsyndromic hearing loss 36.

18 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 36. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	6	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609006

GARD

Genetic and Rare Diseases Info Center

GARD:22611

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 36

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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