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ORPHA:2331

Kawasaki disease

low confidenceDisorder

Also known as: Mucocutaneous lymph node syndrome

Publications

21,285

Trials

39

Interventional, condition-specific

Researchers

1,089

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory disease characterized by an acute febrile, systemic, self-limiting, medium-vessel vasculitis primarily affecting children. It often causes acute coronary arteritis which is associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Kawasaki syndrome · acute febrile mucocutaneous lymph node syndrome · acute febrile mucocutaneous lymph node syndrome [MCLS] · infantile polyarteritis nodosa · mucocutaneous lymph node 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.”

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

    21,285 matched papers (12,780 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Arthritis; Abnormal heart valve morphology; Pericarditis) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    2 FDA · 1 EMA designations (2 FDA orphan-indication approvals) — e.g. aspirin Source

  6. Interventional trialPresent

    39 matched on ClinicalTrials.gov (8 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)

46

Associated phenotypes · MONDO:0012727

  • Arthritis
  • Abnormal heart valve morphology
  • Pericarditis
  • Increased total leukocyte count
  • Diarrhea

Showing 5 of 46 — 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)

3

Designations · 2 with FDA orphan-indication approval

  • FDA aspirinKawasaki Disease · 2020-09-18 · Not FDA Approved for Orphan Indication
  • FDA UlinastatinKawasaki Disease · 2020-06-12 · Not FDA Approved for Orphan Indication
  • EMA infliximabTreatment of Kawasaki disease · 20/05/2026 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0012727

CTD chemicals (MyDisease.info)

15 associated chemicals · 44 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Alprostadil · therapeutic
  • Antilymphocyte Serum · therapeutic
  • Aspirin · therapeutic
  • Methylprednisolone · therapeutic
  • prednisolone hemisuccinate · therapeutic
  • Warfarin · therapeutic
  • Air Pollutants · marker/mechanism
  • Carbamazepine · marker/mechanism
  • Griseofulvin · marker/mechanism
  • Mesalamine · marker/mechanism
  • Ozone · marker/mechanism

Pathways: Inositol phosphate metabolism; Metabolic pathways; Calcium signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Phosphatidylinositol signaling system; Phagosome; Osteoclast differentiation

MyDisease.info · MONDO:0012727

Literature

Is anyone studying this?

21,285

21,285 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.

21,285 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).

12,780 in the last 10 years · low confidence

Phrase hits: 21,285 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,089

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
    Liu Y10 papers · 2026

    Institute of Pediatric Research, Children's Hospital of Soochow University, No. 92 Zhongnan Street, Jiangsu, 215025, Suzhou, China. d201077400@alumni.hust.edu.cn.

    Papers in Europe PMC
  2. 02
    Lv H10 papers · 2026

    Department of Cardiology, Children's Hospital of Soochow University, 215025, Suzhou, China.

    Papers in Europe PMC
  3. 03
    Chen Y9 papers · 2026

    Department of Pediatrics, The first people's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China.

    Papers in Europe PMC
  4. 04
    Li X8 papers · 2026

    Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.

    Papers in Europe PMC
  5. 05
    Liu Z8 papers · 2026

    Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, China.

    Papers in Europe PMC
  6. 06
    Wang C8 papers · 2026

    Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.

    Papers in Europe PMC
  7. 07
    Wang Y8 papers · 2026

    Dr. Neher's Biophysics Laboratory for Innovative Drug Discovery, State Key Laboratory of Quality Research in Chinese Medicine, Faculty of Chinese Medicine, Macau University of Science and Technology, Macau, China.

    Papers in Europe PMC
  8. 08
    Zhang J7 papers · 2026

    Department of Pediatrics, Sichuan Academy of Medical Science-Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

    Papers in Europe PMC
  9. 09
    Liu X6 papers · 2026

    Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  10. 10
    Singh S6 papers · 2026

    Allergy and Immunology Unit, Department of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

39

interventional trials for this specific condition

39 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 11 September 2026

39 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.7th percentile).

low confidence · 96.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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.

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Kawasaki 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.

"Kawasaki disease" OR "Mucocutaneous lymph node syndrome" OR "Kawasaki syndrome" OR "acute febrile mucocutaneous lymph node syndrome" OR "acute febrile mucocutaneous lymph node syndrome [MCLS]" OR "infantile polyarteritis nodosa"

Run this search on Europe PMC

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

"Kawasaki disease" OR "Mucocutaneous lymph node syndrome" OR "Kawasaki syndrome" OR "acute febrile mucocutaneous lymph node syndrome" OR "acute febrile mucocutaneous lymph node syndrome [MCLS]" OR "infantile polyarteritis nodosa"

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: 39 interventional · 24 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 (21285) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:53:15.074Z