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ORPHA:117

Behçet disease

medium confidenceDisorder

Publications

15,701

95.1th percentile

Trials

54

Interventional, condition-specific

Researchers

1,121

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

Bechet syndrome · Behcet disease · Behcet syndrome · Behcet's syndrome · Behçet syndrome · Behçet's syndrome · Behçet-Adamantiades syndrome · Morbus Behçet's syndrome · silk road disease

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

    15,701 matched papers (5,653 in last 10 years) Source

  3. Phenotype characterisedPresent

    101 HPO annotations (e.g. Raynaud phenomenon; Erythema nodosum; Chorioretinitis) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    5 FDA designations (4 FDA orphan-indication approvals) — e.g. adalimumab Source

  6. Interventional trialPresent

    54 matched on ClinicalTrials.gov (14 recruiting in sample)

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)

101

Associated phenotypes · MONDO:0007191

  • Raynaud phenomenon
  • Erythema nodosum
  • Chorioretinitis
  • Irritability
  • Superficial thrombophlebitis

Showing 5 of 101 — 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)

5

Designations · 4 with FDA orphan-indication approval

  • FDA adalimumabBehcet Syndrome · 2014-07-10 · Not FDA Approved for Orphan Indication
  • FDA pentoxifyllineBehcet Syndrome · 2012-06-14 · Not FDA Approved for Orphan Indication
  • FDA gevokizumabBehcet Syndrome · 2010-07-27 · Not FDA Approved for Orphan Indication
  • FDA ColchicineBehcet Syndrome · 2007-09-25 · Not FDA Approved for Orphan Indication
  • FDA apremilast (OTEZLA)Behcet Syndrome · 2013-01-17

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

40

Drugs / clinical candidates · MONDO_0007191

CTD chemicals (MyDisease.info)

15 associated chemicals · 168 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Azathioprine · therapeutic
  • Chlorambucil · therapeutic
  • Colchicine · therapeutic
  • Cyclophosphamide · therapeutic
  • Cyclosporine · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Sulfasalazine · therapeutic
  • Tacrolimus · therapeutic
  • Thalidomide · therapeutic
  • Antioxidants · marker/mechanism
  • Cholesterol, HDL · marker/mechanism

Pathways: Tryptophan metabolism; Glyoxylate and dicarboxylate metabolism; Carbon metabolism; PPAR signaling pathway; Rap1 signaling pathway; Cytokine-cytokine receptor interaction; Chemokine signaling pathway; NF-kappa B signaling pathway

MyDisease.info · MONDO:0007191

Literature

Is anyone studying this?

15,701

15,701 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=3967) is 59.

15,701 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).

5,653 in the last 10 years · medium confidence · 95.1th percentile (publications denominator)

Phrase hits: 15,701 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,121

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
    Hatemi G7 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Türkiye; Behçet's Disease Research Center, Istanbul University-Cerrahpasa, Istanbul, Türkiye.

    Papers in Europe PMC
  2. 02
    Gül A6 papers · 2026

    Istanbul, Turkey.

    Papers in Europe PMC
  3. 03
    Talarico R5 papers · 2026

    Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Tugal-Tutkun I5 papers · 2026

    Istanbul, Turkey.

    Papers in Europe PMC
  5. 05
    Wang X5 papers · 2026

    Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College; National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, Beijing 100730, China.

    Papers in Europe PMC
  6. 06
    Deniz R4 papers · 2025

    Department of Internal Medicine, Division of Rheumathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

    Papers in Europe PMC
  7. 07
    Esatoglu SN4 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Türkiye; Behçet's Disease Research Center, Istanbul University-Cerrahpasa, Istanbul, Türkiye. Electronic address: nihalesatoglu@gmail.com.

    Papers in Europe PMC
  8. 08
    Espinosa G4 papers · 2026

    Servicio de Enfermedades Autoinmunes, Centro de Referencia (UEC/CSUR) en Enfermedades Autoinmunes Sistémicas, Vasculitis y Enfermedades Autoinflamatorias; Miembro de ERN-ReCONNET/RITA; Hospital Clínic, Barcelona, España; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España; Facultat de Medicina i Ciències de la Salut; Universitat de Barcelona, Barcelona, España. Electronic address: gespino@clinic.cat.

    Papers in Europe PMC
  9. 09
    Seyahi E4 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, School of Medicine, Behçet's Disease Research Center, Istanbul University-Cerrahpasa, Istanbul, Turkey.

    Papers in Europe PMC
  10. 10
    Zheng W4 papers · 2026

    Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College; National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science & Technology, Beijing 100730, China. Electronic address: zhengwj@pumch.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

54

interventional trials for this specific condition

54 interventional trials matched this specific condition name; 14 currently recruiting in our sample.

Data as of 11 September 2026

54 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.3th percentile).

medium confidence · 97.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

54 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

35 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 18 · after dedupe 17 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 17 · 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).

Uncertain / not reviewed (17)

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 Behçet disease — 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.

("Behçet disease" OR "Bechet syndrome" OR "Behcet disease" OR "Behcet syndrome" OR "Behcet's syndrome" OR "Behçet syndrome" OR "Behçet's syndrome" OR "Behçet-Adamantiades syndrome" OR "Morbus Behçet's syndrome" OR "silk road disease")

Run this search on Europe PMC

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

"Behçet disease" OR "Bechet syndrome" OR "Behcet disease" OR "Behcet syndrome" OR "Behcet's syndrome" OR "Behçet syndrome" OR "Behçet's syndrome" OR "Behçet-Adamantiades syndrome" OR "Morbus Behçet's syndrome" OR "silk road disease"

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: 54 interventional · 35 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

Ingested 2026-07-26T12:29:32.655Z