ORPHA:617919
F12-associated cold autoinflammatory syndrome
Also known as: FACAS
Publications
43
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
276
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to mutations in the coagulation factor (12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.
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:0850053
- UMLS:C5681829
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
43 matched papers (36 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 trialPartial
None under the specific name; 8 for broader category autoinflammatory syndrome
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
43
43 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.
43 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).
36 in the last 10 years · high confidence · 47.5th percentile (publications denominator)
Phrase hits: 43 · MeSH hits: 0
Who's working on it?
276
Distinct author names in 43 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.
- 01Facas J4 papers · 2023
Medical Imaging Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Papers in Europe PMC - 02Donato P3 papers · 2022
Medical Imaging Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Papers in Europe PMC - 03Neurock M3 papers · 2021
Department of Chemical Engineering and Materials Science, University of Minnesota, 421 Washington Avenue SE, Minneapolis, Minnesota 55455, United States.
Papers in Europe PMC - 04Bonnekoh H2 papers · 2023
Institute of Allergology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, and.
Papers in Europe PMC - 05Dauenhauer PJ2 papers · 2021
Department of Chemical Engineering and Materials Science, University of Minnesota, 421 Washington Avenue SE, Minneapolis, Minnesota 55455, United States.
Papers in Europe PMC - 06Diaz RV2 papers · 2023
Center for Thrombosis and Hemostasis (CTH), University Medical Center Mainz, Johannes Gutenberg-University Mainz, German Center for Cardiovascular Research (DZHK), Partner Site Rhein-Main, Mainz, Germany.
Papers in Europe PMC - 07Facas GG2 papers · 2021
Department of Chemical Engineering and Materials Science, University of Minnesota, 421 Washington Avenue SE, Minneapolis, Minnesota 55455, United States.
Papers in Europe PMC - 08Krause K2 papers · 2023
Institute of Allergology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, and.
Papers in Europe PMC - 09Maas C2 papers · 2023
CDL Research, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Papers in Europe PMC - 10Maliekkal V2 papers · 2021
Department of Chemical Engineering and Materials Science, University of Minnesota, 421 Washington Avenue SE, Minneapolis, Minnesota 55455, United States.
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). 8 trials are registered for autoinflammatory syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
8 interventional trials matched autoinflammatory syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autoinflammatory syndrome
8
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"F12-associated cold autoinflammatory syndrome" OR "FACAS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"F12-associated cold autoinflammatory syndrome" OR "FACAS"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autoinflammatory syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T19:06:44.133Z