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ORPHA:90340

Blau syndrome

low confidenceDisorder

Publications

1,719

Trials

5

Interventional, condition-specific

Researchers

1,173

Distinct authors in sample

Gene link

NOD2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

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 (11)

BLAUS · EOS · Jabs syndrome · arthrocutaneouveal granulomatosis · early-onset sarcoidosis · granulomatosis, familial juvenile systemic · granulomatosis, familial, Blau type · granulomatous inflammatory arthritis, dermatitis, and uveitis, familial · paediatric granulomatous arthritis · pediatric granulomatous arthritis · sarcoidosis, early-onset

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.

  1. Gene identifiedPresent

    Definitive — NOD2

  2. LiteraturePresent

    1,719 matched papers (1,001 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 trialPresent

    5 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (NOD2).

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?

1,719

1,719 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=5449) is 41.

1,719 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).

1,001 in the last 10 years · low confidence

Phrase hits: 1,719 · MeSH hits: 44

Open Europe PMC search

Who's working on it?

1,173

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 N8 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Wang W6 papers · 2024

    Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing Dongcheng District, Beijing, 100730, China. wangwei.a@163.com.

    Papers in Europe PMC
  3. 03
    Yao Q6 papers · 2026

    Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, United States.

    Papers in Europe PMC
  4. 04
    Babu K5 papers · 2025

    Department of Uveitis & Ocular Inflammation, Vittala International Institute of Ophthalmology & Prabha Eye Clinic and Research Center, Bangalore, India.

    Papers in Europe PMC
  5. 05
    Cantarini L5 papers · 2025

    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena , Siena , Italy.

    Papers in Europe PMC
  6. 06
    Gupta V5 papers · 2025

    Advanced Eye Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

    Papers in Europe PMC
  7. 07
    Saito MK5 papers · 2023

    Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan. Electronic address: msaito@cira.kyoto-u.ac.jp.

    Papers in Europe PMC
  8. 08
    Gao Y4 papers · 2024

    Southwest Hospital/Southwest Eye Hospital, Army Medical University (Third Military Medical University), Chongqing, China.

    Papers in Europe PMC
  9. 09
    Kanazawa N4 papers · 2022

    Department of Dermatology, Wakayama Medical University, Wakayama, Japan.

    Papers in Europe PMC
  10. 10
    Shen M4 papers · 2026

    Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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.

"Blau syndrome" OR "BLAUS" OR "Jabs syndrome" OR "arthrocutaneouveal granulomatosis" OR "early-onset sarcoidosis" OR "granulomatosis, familial juvenile systemic" OR "granulomatosis, familial, Blau type" OR "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" OR "paediatric granulomatous arthritis" OR "pediatric granulomatous arthritis" OR "sarcoidosis, early-onset"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Blau syndrome

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

"Blau syndrome" OR "BLAUS" OR "Jabs syndrome" OR "arthrocutaneouveal granulomatosis" OR "early-onset sarcoidosis" OR "granulomatosis, familial juvenile systemic" OR "granulomatosis, familial, Blau type" OR "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" OR "paediatric granulomatous arthritis" OR "pediatric granulomatous arthritis" OR "sarcoidosis, early-onset" OR "NOD2"

Recall-expansion terms: NOD2

Interventional trials matched via: both, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EOS

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "early-onset sarcoidosis" also appears on ORPHA:90341
  • "pediatric granulomatous arthritis" also appears on ORPHA:3274
  • Publication count (1719) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:44:59.343Z