ORPHA:598363
Multisystem inflammatory syndrome in children and adults
Also known as: MIS-C/A
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7,532
Trials
0
Interventional, condition-specific
Researchers
1,454
Distinct authors in sample
Gene link
OAS2, RNASEL
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic disease characterized by a life-threatening hyperinflammatory state several weeks after infection with SARS-CoV-2, predominantly occurring in children. The primary infection is typically mild or asymptomatic, and patients are generally previously healthy individuals. Typical presenting signs and symptoms are persistent fever, gastrointestinal symptoms, mucocutaneous inflammation, lymphopenia, and high levels of circulating inflammatory markers. Some patients develop severe disease with cardiac involvement, hypotension, and shock. Presentation is similar in adults, although the severity of cardiac dysfunction, incidence of thrombosis, and mortality may be higher.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0035375
- UMLS:C5680268
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — OAS2, RNASEL
- LiteraturePresent
7,532 matched papers (7,443 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (OAS2, RNASEL).
GenCC classification: Strong.
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?
7,532
7,532 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=5449) is 41.
7,532 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).
7,443 in the last 10 years · low confidence
Phrase hits: 7,532 · MeSH hits: 0
Who's working on it?
1,454
Distinct author names in 200 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.
- 01Pavlyshyn H5 papers · 2026
Department of Pediatrics, No.2, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.
Papers in Europe PMC - 02Belot A4 papers · 2026
CIRI, Centre International de Recherche en Infectiologie, Lyon, France.
Papers in Europe PMC - 03Butters C4 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.
Papers in Europe PMC - 04Kozak K4 papers · 2026
Department of Pediatrics, No.2, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.
Papers in Europe PMC - 05Webb K4 papers · 2026
Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa; Crick African Network, The Francis Crick Institute, London, United Kingdom. Electronic address: kate.webb@uct.ac.za.
Papers in Europe PMC - 06Aldag E3 papers · 2026
Department of Pediatrics, Division of Pediatric Hospital Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Papers in Europe PMC - 07Bochner R3 papers · 2026
Department of Pediatrics, New York City Health and Hospitals Harlem Hospital, Columbia University College of Physicians and Surgeons, New York, New York, USA.
Papers in Europe PMC - 08Cheng AHH3 papers · 2026
Cell and Systems Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Papers in Europe PMC - 09Erdem G3 papers · 2026
Division of Infectious Diseases, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
Papers in Europe PMC - 10Graf T3 papers · 2026
Department of Pediatrics, Division of Pediatric Hospital Medicine, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.
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.
low 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 2026-07-26This 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.
"Multisystem inflammatory syndrome in children and adults" OR "MIS-C/A"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multisystem inflammatory syndrome in children and adults" OR "MIS-C/A" OR "OAS2" OR "RNASEL"
Recall-expansion terms: OAS2, RNASEL
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (7532) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T18:56:18.930Z