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familial cold autoinflammatory syndrome

MONDO:0018768Mondo

Findings

No curated finding names familial cold autoinflammatory syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0018768), read 2026-09-29. CC BY 4.0.

Features

17 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

ArthritisHPOHP:0001369
- Very frequent (80% to 99% of cases)
DysesthesiaHPOHP:0012534
- Very frequent (80% to 99% of cases)
ErythemaHPOHP:0010783
- Very frequent (80% to 99% of cases)
FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
UrticariaHPOHP:0001025
- Very frequent (80% to 99% of cases)
HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)

Show the remaining 5

ArthralgiaHPOHP:0002829
- Occasional (5% to 29% of cases)
ConjunctivitisHPOHP:0000509
- Occasional (5% to 29% of cases)
DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
PolydipsiaHPOHP:0001959
- Occasional (5% to 29% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

NLRP3HGNC:16400
- Definitive · G2P · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: cryopyrin-associated periodic syndrome
Narrower terms (4): familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4

Other names

2 names

Resolves to: familial cold autoinflammatory syndrome

Also called: FCASFCU