Features include always present findings: Conjunctival hyperemia, Hearing loss (hearing impairment), Short stature, and Deep dermal perivascular inflammatory infiltrate and others; and common findings: Conjunctivitis. 24 total HPO annotations.

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).

Muckle-Wells syndrome 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.

Genetic testing for NLRP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Muckle-Wells syndrome has been reported in the published literature.

Phenotype severity distribution: 18 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, medical devices, and gene therapy. Pipeline includes 1 PHASE1, 1 NA. Research is primarily sponsored by academic and government institutions.

86 publications have been identified in PubMed for Muckle-Wells syndrome. Research spans Review / Meta-Analysis (26%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).