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ORPHA:1451

CINCA syndrome

low confidenceDisorder

Also known as: Chronic infantile neurological cutaneous and articular syndrome · IOMID syndrome · Infantile-onset multisystem inflammatory disease · NOMID syndrome · Neonatal-onset multisystem inflammatory disease · Prieur-Griscelli syndrome

Publications

1,884

Trials

17

Interventional, condition-specific

Researchers

1,134

Distinct authors in sample

Gene link

NLRP3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, cryopyrin-associated periodic syndrome (CAPS) characterized by onset of systemic inflammation, urticarial skin rash and arthritis/arthralgia resulting in severe arthropathy and central nervous system involvement (including chronic aseptic meningitis, brain atrophy and sensorineural hearing loss).

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 (8)

CINCA/NOMID · NOMID · Neonatal-Onset Multisystem Inflammatory Disease · chronic infantile neurological cutaneous and articular syndrome · chronic neurologic cutaneous and articular syndrome · cryopyrin-associated periodic syndrome 3 · infantile-onset multisystem inflammatory disease · neonatal-onset multisystem inflammatory 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NLRP3

  2. LiteraturePresent

    1,884 matched papers (1,021 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

    17 matched on ClinicalTrials.gov (3 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 (NLRP3).

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?

1,884

1,884 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.

1,884 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).

1,021 in the last 10 years · low confidence

Phrase hits: 1,884 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,134

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
    Nishikomori R11 papers · 2026

    Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.

    Papers in Europe PMC
  2. 02
    Goldbach-Mansky R8 papers · 2024

    Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Kuemmerle-Deschner JB8 papers · 2026

    University Hospital Tuebingen, Tuebingen, Germany.

    Papers in Europe PMC
  4. 04
    Hoffman HM6 papers · 2024

    University of California San Diego, San Diego, California, USA.

    Papers in Europe PMC
  5. 05
    Zhang Y6 papers · 2025

    Department of Otology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  6. 06
    Aksentijevich I5 papers · 2026

    Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Cantarini L5 papers · 2026

    Department of Medical Sciences, Surgery and Neurosciences, University of Siena, 53100 Siena, Italy. cantariniluca@hotmail.com.

    Papers in Europe PMC
  8. 08
    Wang Y5 papers · 2026

    Department of Otology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  9. 09
    Zhang T5 papers · 2026

    Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

    Papers in Europe PMC
  10. 10
    Alehashemi S4 papers · 2024

    Translational Autoinflammatory Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA. sara.alehashemi@nih.gov.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

17

interventional trials for this specific condition

17 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

17 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.9th percentile).

low confidence · 93.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

20 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

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.

"CINCA syndrome" OR "Chronic infantile neurological cutaneous and articular syndrome" OR "IOMID syndrome" OR "Infantile-onset multisystem inflammatory disease" OR "NOMID syndrome" OR "Neonatal-onset multisystem inflammatory disease" OR "Prieur-Griscelli syndrome" OR "CINCA/NOMID" OR "NOMID" OR "chronic neurologic cutaneous and articular syndrome" OR "cryopyrin-associated periodic syndrome 3"

Run this search on Europe PMC

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

"CINCA syndrome" OR "Chronic infantile neurological cutaneous and articular syndrome" OR "IOMID syndrome" OR "Infantile-onset multisystem inflammatory disease" OR "NOMID syndrome" OR "Neonatal-onset multisystem inflammatory disease" OR "Prieur-Griscelli syndrome" OR "CINCA/NOMID" OR "NOMID" OR "chronic neurologic cutaneous and articular syndrome" OR "cryopyrin-associated periodic syndrome 3" OR "NLRP3"

Recall-expansion terms: NLRP3

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: 17 interventional · 20 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 (1884) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T17:25:03.816Z