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familial cold autoinflammatory syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial cold autoinflammatory syndrome 4

MONDO:0014498

Also known as:NLRC4 familial cold autoinflammatory syndromeNLRC4-related familial cold autoinflammatory syndromefamilial cold autoinflammatory syndrome caused by mutation in NLRC4

Overview

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.

GeneticsAutosomal dominant · NLRC4 (chr 2)

Clinical Presentation

Features include: Urticaria, Arthralgia, and Fever.

Organ System	Phenotype Count	Example Features
Skin	1	Urticaria
Bones and joints	1	Arthralgia
Metabolism	1	Fever

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.

NLRC4 encodes NLR family CARD domain containing 4 (1,024 aa). Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis. Highest expression in Whole Blood (25.8 TPM) and Spleen (13.8 TPM).

Familial cold autoinflammatory syndrome 4 is associated with mutations in the NLRC4 gene on chromosome 2.

The NLRC4 protein participates in TP53 stimulates NLRC4 expression, p-S15,S20-TP53:NLRC4 Gene, and TP53 Regulates Transcription of Caspase Activators and Caspases pathways.

NLRC4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NLRC4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial cold autoinflammatory syndrome 4 has been reported in the published literature.

Prognosis

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

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 familial cold autoinflammatory syndrome 4.

26 publications have been identified in PubMed for familial cold autoinflammatory syndrome 4. Research spans Review / Meta-Analysis (27%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	7	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616115

Orphanet

European rare disease database

Orphanet:576349

GARD

Genetic and Rare Diseases Info Center

GARD:16061

Questions for Your Care Team

→Should I pursue genetic testing for NLRC4, 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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familial cold autoinflammatory syndrome 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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