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familial cold autoinflammatory syndrome 2 (FCAS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial cold autoinflammatory syndrome 2

MONDO:0012724

Also known as:FCAS2NALP12-associated hereditary periodic fever syndromeNAPS12

Overview

An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.

GeneticsAutosomal dominant · NLRP12 (chr 19)

ResearchLimited published research (6 articles)

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 always present findings: Elevated erythrocyte sedimentation rate, Elevated CRP (inflammation marker) (elevated circulating c-reactive protein concentration), Recurrent fever, and Elevated white blood cell count (increased total leukocyte count); and very common findings: Urticaria and Arthralgia. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Urticaria, Erythema nodosum, Skin rash

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.

NLRP12 encodes NLR family pyrin domain containing 12 (1,061 aa). Plays an essential role as an potent mitigator of inflammation. Highest expression in Whole Blood (34.0 TPM) and Spleen (7.7 TPM).

Familial cold autoinflammatory syndrome 2 is associated with mutations in the NLRP12 gene on chromosome 19.

NLRP12 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NLRP12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 8 common features.

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 2.

7 publications have been identified in PubMed for familial cold autoinflammatory syndrome 2. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Bouramtane A (2026). [PMID: 41261519](https://pubmed.ncbi.nlm.nih.gov/41261519/). *Int J Immunogenet*. [Review / Meta-Analysis]
Lizama-Muñoz A (2026). [PMID: 42099593](https://pubmed.ncbi.nlm.nih.gov/42099593/). *Front Immunol*. [Case Report / Case Series]
Ruíz-Santana JE (2026). [PMID: 42157874](https://pubmed.ncbi.nlm.nih.gov/42157874/). *Case Rep Med*. [Case Report / Case Series]
Vatandoost N (2025). [PMID: 40556386](https://pubmed.ncbi.nlm.nih.gov/40556386/). *Int J Immunogenet*. [Review / Meta-Analysis]
Nadendla EK (2025). [PMID: 40408404](https://pubmed.ncbi.nlm.nih.gov/40408404/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611762

Orphanet

European rare disease database

Orphanet:247868

GARD

Genetic and Rare Diseases Info Center

GARD:17201

Questions for Your Care Team

→Should I pursue genetic testing for NLRP12, 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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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