familial cold autoinflammatory syndrome 1
Findings
No curated finding names familial cold autoinflammatory syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0007349), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
18 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.
- Aphthous ulcerHPOHP:0032154
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 11 of 11 reported patients
- ArthritisHPOHP:0001369
- 1 of 1 reported patient
- ConjunctivitisHPOHP:0000509
- 11 of 11 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 11 of 11 reported patients
- FeverHPOHP:0001945
- 1 of 1 reported patient
- UrticariaHPOHP:0001025
Show the remaining 6
- FatigueHPOHP:0012378
- HeadacheHPOHP:0002315
- Increased total leukocyte countHPOHP:0001974
- MyalgiaHPOHP:0003326
- Recurrent feverHPOHP:0001954
- Skin rashHPOHP:0000988
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
- Strong · G2P · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: familial cold autoinflammatory syndrome 1
- Also called
- familial cold autoinflammatory syndrome caused by mutation in NLRP3familial cold autoinflammatory syndrome type 1familial cold inflammatory syndrome 1NLRP3 familial cold autoinflammatory syndrome