ORPHA:32960
Tumor necrosis factor receptor 1 associated periodic syndrome
Also known as: Familial Hibernian fever · TNF receptor 1-associated periodic syndrome · TRAPS syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
144,598
Trials
3
Interventional, condition-specific
Researchers
1,083
Distinct authors in sample
Gene link
TNFRSF1A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007727
- MeSH:C536657
- OMIM:142680
- UMLS:C1275126
- NCIT:C119051
Additional Mondo synonyms (13)
FHF · Hibernian fever, familial · TNF receptor 1-associated periodic fever syndrome · TNF receptor-associated periodic syndrome · TRAPS · Tumor Necrosis Factor Receptor-Associated Periodic Syndrome · familial Hibernian fever · tumor necrosis factor receptor 1 associated periodic syndrome · tumor necrosis factor receptor 1-associated periodic syndrome · tumor necrosis factor receptor-associated periodic syndrome · tumour necrosis factor receptor 1 associated periodic syndrome · tumour necrosis factor receptor 1-associated periodic syndrome · tumour necrosis factor receptor-associated periodic syndrome
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — TNFRSF1A
- LiteraturePresent
144,598 matched papers (98,980 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 trialPresent
3 matched on ClinicalTrials.gov
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 (TNFRSF1A).
GenCC classification: Definitive.
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?
144,598
144,598 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
144,598 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).
98,980 in the last 10 years · low confidence
Phrase hits: 144,598 · MeSH hits: 0
Who's working on it?
1,083
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Georgin-Lavialle S8 papers · 2026
CEREMAIA (French reference center for auto-inflammatory diseases and inflammatory amyloidosis), Kremlin-Bicêtre, France.
Papers in Europe PMC - 02
- 03Kuemmerle-Deschner JB7 papers · 2026
University Hospital Tubingen, Tubingen, Germany.
Papers in Europe PMC - 04Belot A5 papers · 2025
Pediatric Nephrology Rheumatology and Dermatology, CHU Lyon, Lyon, France.
Papers in Europe PMC - 05
- 06Boursier G5 papers · 2026
Laboratoire de Génétique des Maladies rares et autoinflammatoires, Service de Génétique moléculaire et cytogénomique, CHU Montpellier, Univ Montpellier, CeRéMAIA, Montpellier, France.
Papers in Europe PMC - 07Cantarini L5 papers · 2024
Rheumatology Unit, Institute of Rheumatology, Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Policlinico Le Scotte, University of Siena, Viale Bracci 1, 53100 Siena, Italy. cantariniluca@hotmail.com
Papers in Europe PMC - 08Hentgen V5 papers · 2025
Centre Hospitalier de Versailles, Le Chesnay Cedex, France
Papers in Europe PMC - 09Frenkel J4 papers · 2023
Department of Pediatrics, University Medical Center Utrecht, Utrecht, Netherlands
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05292768·NOT YET RECRUITING·Are Mast Cells Involved in Autoinflammatory Diseases
Conditions: Autoinflammatory Disease · FMF · TRAPS · MKD·Matched via name phrase
- NCT06838143·RECRUITING·Ilaris NIS in Korea
Conditions: Hereditary Periodic Fever Syndromes · Cryopyrin-associated Periodic Syndromes (CAPS) · Colchicine Resistance Familial Mediterranean Fever (crFMF) · TNF Receptor Associated Periodic Syndrome (TRAPS)·Matched via name phrase
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.
"Tumor necrosis factor receptor 1 associated periodic syndrome" OR "Familial Hibernian fever" OR "TNF receptor 1-associated periodic syndrome" OR "TRAPS syndrome" OR "Hibernian fever, familial" OR "TNF receptor 1-associated periodic fever syndrome" OR "TNF receptor-associated periodic syndrome" OR "TRAPS" OR "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" OR "tumor necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor 1 associated periodic syndrome" OR "tumour necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor-associated periodic syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tumor necrosis factor receptor 1 associated periodic syndrome" OR "Familial Hibernian fever" OR "TNF receptor 1-associated periodic syndrome" OR "TRAPS syndrome" OR "Hibernian fever, familial" OR "TNF receptor 1-associated periodic fever syndrome" OR "TNF receptor-associated periodic syndrome" OR "TRAPS" OR "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" OR "tumor necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor 1 associated periodic syndrome" OR "tumour necrosis factor receptor 1-associated periodic syndrome" OR "tumour necrosis factor receptor-associated periodic syndrome" OR "TNFRSF1A"
Recall-expansion terms: TNFRSF1A
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FHF
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (144598) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T23:31:07.886Z