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

Rare Disease

familial cold autoinflammatory syndrome

MONDO:0018768

Also known as:FCASFCUfamilial cold urticaria

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Overview

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

OnsetLATE

Clinical Trials1 registered

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 very common findings: Excessive sweating (hyperhidrosis), Pruritus, Urticaria, and Joint inflammation (arthritis) and others; and common findings: Nausea and vomiting and Headache. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4	Excessive sweating (hyperhidrosis), Pruritus, Urticaria

Prognosis

Phenotype severity distribution: 9 very common features, 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered. Interventions under study include other interventions, medical devices, gene therapy, and biologic therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

17 publications have been identified in PubMed for familial cold autoinflammatory syndrome. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Patient case studies	7

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:47045

GARD

Genetic and Rare Diseases Info Center

GARD:9535

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

familial cold autoinflammatory syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications