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ORPHA:37748

Schnitzler syndrome

low confidenceDisorder

Also known as: Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Publications

692

Trials

6

Interventional, condition-specific

Researchers

975

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

chronic urticaria with gammopathy · chronic urticaria with macroglobulinemia

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    692 matched papers (398 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Skin rash; Pruritus; Urticaria) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Gevokizumab Source

  6. Interventional trialPresent

    6 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0018304

  • Skin rash
  • Pruritus
  • Urticaria
  • Arthritis
  • Splenomegaly

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · no FDA orphan-indication approval yet

  • EMA GevokizumabTreatment of Schnitzler syndrome · 22/08/2014 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0018304

CTD chemicals (MyDisease.info)

2 associated chemicals · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Interleukin 1 Receptor Antagonist Protein · therapeutic
  • Thalidomide · therapeutic

Pathways: Cytokine Signaling in Immune system; Immune System; Interleukin-1 signaling; Signaling by Interleukins; Interleukin-10 signaling

MyDisease.info · MONDO:0018304

Literature

Is anyone studying this?

692

692 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

692 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

398 in the last 10 years · low confidence

Phrase hits: 692 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

975

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.

  1. 01
    Kambe N9 papers · 2026

    Department of Dermatology, Kansai Medical University, Hirakata, Osaka, Japan.

    Papers in Europe PMC
  2. 02
    Lipsker D9 papers · 2025

    Faculty of Medicine, University of Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  3. 03
    Bonnekoh H6 papers · 2025

    Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

    Papers in Europe PMC
  4. 04
    Krause K6 papers · 2023

    Dermatological Allergology, Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.

    Papers in Europe PMC
  5. 05
    Izawa K5 papers · 2026

    Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  6. 06
    Kabashima K5 papers · 2026

    Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  7. 07
    Savic S5 papers · 2025

    Leeds Musculoskeletal Biomedical Research Centre, National Institute for Health Research, Leeds, United Kingdom.

    Papers in Europe PMC
  8. 08
    Yoshifuji H5 papers · 2025

    Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  9. 09
    Cantarini L4 papers · 2026

    Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.

    Papers in Europe PMC
  10. 10
    Georgin-Lavialle S4 papers · 2026

    Department of Internal Medicine, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Sorbonne University, AP-HP, Tenon Hospital, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 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

3 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Schnitzler syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Schnitzler syndrome" OR "Chronic urticaria with gammopathy" OR "Chronic urticaria with macroglobulinemia"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Schnitzler syndrome" OR "Chronic urticaria with gammopathy" OR "Chronic urticaria with macroglobulinemia"

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: 6 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (692) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:59:52.810Z