Genopathy
Gene-Disorder Association · Article
Gene
NLRP3
NLR Family Pyrin Domain Containing 3
Disorder
Deafness, Autosomal Dominant 34, With Or Without Inflammation
First reported 2017
Supporting publications 1
Key publication · gene–disorder NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.Proceedings of the National Academy of Sciences of the United States of America · 2017
Manually curated
Association Review

In brief

The association between NLRP3 (NLR Family Pyrin Domain Containing 3) and Deafness, Autosomal Dominant 34, With Or Without Inflammation is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 168
Symptoms 15
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
NLRP3

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Deafness, Autosomal Dominant 34, With Or Without Inflammation

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

8 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

168 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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