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autosomal dominant nonsyndromic hearing loss 5 (DFNA5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant nonsyndromic hearing loss 5

MONDO:0010973

Also known as:DFNA5GSDME autosomal dominant nonsyndromic deafnessautosomal dominant deafness 5

Overview

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

GeneticsAutosomal dominant · GSDME (chr 7)

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.

GSDME encodes gasdermin E (496 aa). Precursor of a pore-forming protein that converts non-inflammatory apoptosis to pyroptosis. Highest expression in Cells EBV-transformed lymphocytes (118.3 TPM) and Uterus (33.9 TPM).

Autosomal dominant nonsyndromic hearing loss 5 is associated with mutations in the GSDME gene on chromosome 7.

The GSDME protein participates in GSDME(1-270) E177V, GSDME(1-270) T196M, and GSDME(1-270) G17D pathways.

GSDME is classified as a druggable target (Transporter category) 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 GSDME is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 5 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 dominant nonsyndromic hearing loss 5.

11 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 5. Research spans Basic Science / Preclinical (91%) and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Laboratory research	10	91%

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:600994

GARD

Genetic and Rare Diseases Info Center

GARD:18102

Questions for Your Care Team

→Should I pursue genetic testing for GSDME, 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 5

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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