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autosomal dominant nonsyndromic hearing loss 4A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 4A

MONDO:0010915

Also known as:DFNA4AMYH14 autosomal dominant nonsyndromic deafnessautosomal dominant deafness 4A

Overview

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.

GeneticsAutosomal dominant · MYH14 (chr 19)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Progressive sensorineural hearing impairment.

Organ System	Phenotype Count	Example Features
Ears	1	Progressive 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.

MYH14 encodes myosin heavy chain 14 (1,995 aa). Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping Highest expression in Skin Sun Exposed Lower leg (109.7 TPM) and Muscle Skeletal (106.9 TPM).

Autosomal dominant nonsyndromic hearing loss 4A is associated with mutations in the MYH14 gene on chromosome 19.

The MYH14 protein participates in Smooth muscle/non-muscle myosin II, p-T19-MRLC-Smooth muscle/non-muscle myosin II, and p-T19,S20-MRLC-smooth muscle/non-muscle myosin II pathways.

MYH14 is classified as a druggable target with score 5.8.

Diagnosis

Genetic testing for MYH14 is available. Testing is considered confirmatory for diagnosis.

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 dominant nonsyndromic hearing loss 4A.

2 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 4A. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Kim JA (2025). [PMID: 40164689](https://pubmed.ncbi.nlm.nih.gov/40164689/). *Exp Mol Med*. [Review / Meta-Analysis]
Jung J (2024). [PMID: 39482536](https://pubmed.ncbi.nlm.nih.gov/39482536/). *Exp Mol Med*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600652

GARD

Genetic and Rare Diseases Info Center

GARD:18100

Questions for Your Care Team

→Should I pursue genetic testing for MYH14, 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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autosomal dominant nonsyndromic hearing loss 4A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team