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autosomal recessive nonsyndromic hearing loss 88 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 88

MONDO:0014182

Also known as:DFNB88ELMOD3 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 88

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.

GeneticsAutosomal recessive · ELMOD3 (chr 2)

OnsetINFANTILE

ResearchLimited published research (5 articles)

Clinical Presentation

Features include always present findings: Mixed hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Mixed hearing impairment

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.

ELMOD3 encodes ELMO domain containing 3 (381 aa). Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity Highest expression in Adipose Subcutaneous (36.9 TPM) and Breast Mammary Tissue (26.7 TPM).

Autosomal recessive nonsyndromic hearing loss 88 is associated with mutations in the ELMOD3 gene on chromosome 2.

ELMOD3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ELMOD3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 88.

5 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 88. Research spans Epidemiology / Natural History (40%), Other (20%), and Case Report / Case Series (20%).

Recent Publications

Chan KH (2026). [PMID: 41623227](https://pubmed.ncbi.nlm.nih.gov/41623227/). *Laryngoscope*. [Epidemiology / Natural History]
Balatková Z (2026). [PMID: 41884524](https://pubmed.ncbi.nlm.nih.gov/41884524/). *Otol Neurotol Open*. [Other]
Wang W (2026). [PMID: 41765062](https://pubmed.ncbi.nlm.nih.gov/41765062/). *Mitochondrion*. [Basic Science / Preclinical]
Janky KL (2025). [PMID: 40420514](https://pubmed.ncbi.nlm.nih.gov/40420514/). *J Am Acad Audiol*. [Epidemiology / Natural History]
Zhang JJ (2025). [PMID: 40777921](https://pubmed.ncbi.nlm.nih.gov/40777921/). *Pediatr Diabetes*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615429

GARD

Genetic and Rare Diseases Info Center

GARD:22649

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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autosomal recessive nonsyndromic hearing loss 88

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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