RARE DISEASERESEARCH ATLAS

ORPHA:324972

MAGIC syndrome

medium confidenceDisorder

Also known as: Mouth and genital ulcers-inflamed cartilage syndrome

Publications

120

58.1th percentile

Trials

0

Interventional, condition-specific

Researchers

609

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoinflammatory syndrome characterized by the presence of features of relapsing polychondritis and Behçet's disease in the same individual. This includes cartilage inflammation of the ears, nose, throat, and rib cage, as well as recurrent oral and genital ulcers, respectively. Patients may also present ocular involvement (in particular anterior uveitis or scleritis), arthritis, fever, colitis, thrombophlebitis, central nervous system vasculitis, or, in rare cases, arterial aneurysms. Symptoms of polychondritis occur secondary to those of Behçet's disease in the vast majority of cases.

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 (1)

mouth and genital ulcers with inflamed cartilage

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    120 matched papers (63 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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?

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?

120

120 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.

120 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).

63 in the last 10 years · medium confidence · 58.1th percentile (publications denominator)

Phrase hits: 120 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

609

Distinct author names in 120 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.

  1. 01
    Ferrada MA3 papers · 2026

    Vasculitis Translational Research Program, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  2. 02
    Grayson PC3 papers · 2026

    Vasculitis Translational Research Program, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA peter.grayson@nih.gov.

    Papers in Europe PMC
  3. 03
    Wechsler B3 papers · 2021

    UPMC Université Paris 06, Inserm UMR S 959, Immunology Immunopathology Immunotherapy (I3), Sorbonne Universités, 75005, Paris, France.

    Papers in Europe PMC
  4. 04
    Baccaglini L2 papers · 2013

    Department of Community Dentistry and Behavioral Science, College of Dentistry, University of Florida, Gainesville, FL 32610-3628, USA. lbaccaglini@dental.ufl.edu

    Papers in Europe PMC
  5. 05
    Bambery P2 papers · 2014

    University of Queensland, Bundaberg Hospital, Bundaberg, Australia. pradeepbambery@hotmail.com.

    Papers in Europe PMC
  6. 06
    Carrozzo M2 papers · 2020

    Department of Oral Medicine, School of Dental Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Gupta A2 papers · 2014

    Department of Otorhinolaryngology, Postgraduate Institute of medical education and research, Chandigarh, India. akgpgi@hotmail.com.

    Papers in Europe PMC
  8. 08
    Hachulla E2 papers · 2022

    Département de médecine interne et d'immunologie clinique, Université de Lille,  Inserm, Centre Hospitalier Universitaire (CHU) Lille, Service de Médecine Interne et Immunologie Clinique, Centre de référence des maladies autoimmunes systémiques rares du Nord et Nord-Ouest de France (CeRAINO), U1286, Institute for Translational Research in Inflammation (INFINITE), Lille, France.

    Papers in Europe PMC
  9. 09
    Ito Y2 papers · 2022

    Department of Cellular and Organ Pathology, Graduate School of Medicine, Akita University, Akita, Japan.

    Papers in Europe PMC
  10. 10
    Lalla RV2 papers · 2013
    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 2026-07-26

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.

"MAGIC syndrome" OR "Mouth and genital ulcers-inflamed cartilage syndrome" OR "mouth and genital ulcers with inflamed cartilage"

Run this search on Europe PMC

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

"MAGIC syndrome" OR "Mouth and genital ulcers-inflamed cartilage syndrome" OR "mouth and genital ulcers with inflamed cartilage"

Study-type breakdown: 0 interventional · 0 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 2026-07-27T13:41:24.646Z