ORPHA:247868
NLRP12-associated hereditary periodic fever syndrome
Also known as: FCAS2 · Familial cold autoinflammatory syndrome type 2 · NAPS12
Publications
409
82.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,245
Distinct authors in sample
Gene link
NLRP12
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012724
- MeSH:C567090
- OMIM:611762
- UMLS:C2673198
- NCIT:C119043
Additional Mondo synonyms (5)
NALP12-associated hereditary periodic fever syndrome · NLRP12 familial cold autoinflammatory syndrome · familial cold autoinflammatory syndrome 2 · familial cold autoinflammatory syndrome caused by mutation in NLRP12 · familial cold autoinflammatory syndrome type 2
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — NLRP12
- LiteraturePresent
409 matched papers (256 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (NLRP12).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
409
409 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
409 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
256 in the last 10 years · medium confidence · 82.2th percentile (publications denominator)
Phrase hits: 409 · MeSH hits: 3
Who's working on it?
1,245
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Rigante D8 papers · 2026
Institute of Paediatrics, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 02Koné-Paut I6 papers · 2022
Department of Paediatric Rheumatology and CEREMAI, Bicêtre Hospital, APHP, University of Paris Sud, Paris, France.
Papers in Europe PMC - 03
- 04Ozen S5 papers · 2024
Department of Paediatric Rheumatology, Hacettepe University, Ankara, Turkey.
Papers in Europe PMC - 05Yao Q5 papers · 2024
Division of Rheumatology, Allergy and Immunology, Department of Medicine, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA.
Papers in Europe PMC - 06
- 07Li Y4 papers · 2026
Department of Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Papers in Europe PMC - 08Shen M4 papers · 2023
Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Papers in Europe PMC - 09Aksentijevich I3 papers · 2024
Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 10Brogan PA3 papers · 2024
Department of Infection, Inflammation and Rheumatology, University College London Institute of Child Health, London, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"NLRP12-associated hereditary periodic fever syndrome" OR "FCAS2" OR "Familial cold autoinflammatory syndrome type 2" OR "NAPS12" OR "NALP12-associated hereditary periodic fever syndrome" OR "NLRP12 familial cold autoinflammatory syndrome" OR "familial cold autoinflammatory syndrome 2" OR "familial cold autoinflammatory syndrome caused by mutation in NLRP12"
MeSH descriptor terms unioned into the query: Familial Cold Autoinflammatory Syndrome 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"NLRP12-associated hereditary periodic fever syndrome" OR "FCAS2" OR "Familial cold autoinflammatory syndrome type 2" OR "NAPS12" OR "NALP12-associated hereditary periodic fever syndrome" OR "NLRP12 familial cold autoinflammatory syndrome" OR "familial cold autoinflammatory syndrome 2" OR "familial cold autoinflammatory syndrome caused by mutation in NLRP12" OR "NLRP12"
Recall-expansion terms: NLRP12
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (409) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T10:38:41.326Z