familial cold autoinflammatory syndrome 3
Findings
No curated finding names familial cold autoinflammatory syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
Definition from the Mondo Disease Ontology (MONDO:0013766), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Cold urticariaHPOHP:0410135
- 27 of 27 reported patients
- ErythemaHPOHP:0010783
- 20 of 20 reported patients
- PruritusHPOHP:0000989
- 20 of 20 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 13 of 21 reported patients
- PresyncopeHPOHP:0031972
- 12 of 20 reported patients
- AllergyHPOHP:0012393
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.
- PLCG2HGNC:9066
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2015
Where it sits
Other names
7 names
Resolves to: familial cold autoinflammatory syndrome 3
- Also called
- FACUfamilial atypical cold urticariafamilial cold autoinflammatory syndrome caused by mutation in PLCG2familial cold autoinflammatory syndrome type 3familial cold urticaria with common variable immunodeficiencyPLAIDPLCG2 familial cold autoinflammatory syndrome