familial cold autoinflammatory syndrome 2
Findings
No curated finding names familial cold autoinflammatory syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012724), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
16 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.
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 16 of 16 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 3 of 3 reported patients
- Increased total leukocyte countHPOHP:0001974
- 3 of 3 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients · Infantile onset
- 3 of 4 reported patients
- 3 of 3 reported patients
- ArthralgiaHPOHP:0002829
- 9 of 10 reported patients
- UrticariaHPOHP:0001025
- 15 of 17 reported patients
Show the remaining 4
- Erythema nodosumHPOHP:0012219
- 1 of 3 reported patients
- PharyngalgiaHPOHP:0033050
- 1 of 3 reported patients
- Abdominal painHPOHP:0002027
- Recurrent aphthous stomatitisHPOHP:0011107
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.
- NLRP12HGNC:22938
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: familial cold autoinflammatory syndrome 2
- Also called
- familial cold autoinflammatory syndrome caused by mutation in NLRP12familial cold autoinflammatory syndrome type 2FCAS2NALP12-associated hereditary periodic fever syndromeNAPS12NLRP12 familial cold autoinflammatory syndromeNLRP12-associated hereditary periodic fever syndrome