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hearing loss, autosomal dominant 34, with or without inflammation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal dominant 34, with or without inflammation

MONDO:0033261

Also known as:DFNA34autosomal dominant nonsyndromic deafness 34deafness, autosomal dominant 34, with or without inflammation

Overview

GeneticsAutosomal dominant · NLRP3 (chr 1)

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: Urticaria, Arthralgia, Conjunctivitis, and Lymphadenopathy and 4 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Arthralgia, Joint inflammation (arthritis)
Metabolism

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.

NLRP3 encodes NLR family pyrin domain containing 3 (1,036 aa). Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis. Highest expression in Whole Blood (23.3 TPM) and Lung (6.7 TPM).

Hearing loss, autosomal dominant 34, with or without inflammation is associated with mutations in the NLRP3 gene on chromosome 1.

The NLRP3 protein participates in CLEC7A/inflammasome pathway pathway.

NLRP3 is classified as a druggable target (Druggable Genome category) with score 5.8.

Diagnosis

Genetic testing for NLRP3 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 hearing loss, autosomal dominant 34, with or without inflammation.

250 publications have been identified in PubMed for hearing loss, autosomal dominant 34, with or without inflammation. Kisho has analyzed 180 by research type. Research spans Review / Meta-Analysis (69%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	124

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617772

Questions for Your Care Team

→Should I pursue genetic testing for NLRP3, 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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Kisho

hearing loss, autosomal dominant 34, with or without inflammation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hearing loss, autosomal dominant 34, with or without inflammation

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications