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hearing loss, autosomal dominant 83 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 83

MONDO:0030723

Also known as:DFNA83deafness, autosomal dominant 83

Overview

GeneticsAutosomal dominant · MAP1B (chr 5)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Bilateral sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Bilateral 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.

MAP1B encodes microtubule associated protein 1B (2,468 aa). Facilitates tyrosination of alpha-tubulin in neuronal microtubules. Highest expression in Brain Cerebellar Hemisphere (262.6 TPM) and Brain Cerebellum (227.2 TPM).

Hearing loss, autosomal dominant 83 is associated with mutations in the MAP1B gene on chromosome 5.

MAP1B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MAP1B 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 hearing loss, autosomal dominant 83.

2 publications have been identified in PubMed for hearing loss, autosomal dominant 83. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Han W (2025). [PMID: 39849854](https://pubmed.ncbi.nlm.nih.gov/39849854/). *Hum Mol Genet*. [Case Report / Case Series]
Yu S (2024). [PMID: 39720982](https://pubmed.ncbi.nlm.nih.gov/39720982/). *Mol Genet Genomics*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619808

Questions for Your Care Team

→Should I pursue genetic testing for MAP1B, 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?

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hearing loss, autosomal dominant 83

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team