ORPHA:653728
Congenital insensitivity to pain syndrome, Marsili type
Also known as: Marsili syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
90
62.7th percentile
Trials
0
Interventional, condition-specific
Researchers
687
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (5)
MARSILI syndrome · MARSIS · congenital analgesia, autosomal dominant · indifference to pain, congenital, autosomal dominant · insensitivity to pain, congenital, autosomal dominant
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
90 matched papers (80 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 trialPartial
None under the specific name; 1 for broader category congenital insensitivity to pain
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?
90
90 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.
90 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).
80 in the last 10 years · high confidence · 62.7th percentile (publications denominator)
Phrase hits: 90 · MeSH hits: 0
Who's working on it?
687
Distinct author names in 90 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.
- 01Orosei R5 papers · 2022
Istituto Nazionale di Astrofisica, Istituto di Radioastronomia, Bologna, Italy.
Papers in Europe PMC - 02Campbell BA4 papers · 2024
Smithsonian Institution, MRC 315, PO Box 37012, Washington, DC 20013-7012.
Papers in Europe PMC - 03Phillips RJ4 papers · 2018
Department of Earth and Planetary Sciences and McDonnell Center for the Space Sciences, Washington University in St. Louis, Campus Box 1169, One Brookings Drive, St. Louis, MO 63130-4899.
Papers in Europe PMC - 04Plaut JJ4 papers · 2024
Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA 91109 USA.
Papers in Europe PMC - 05Lauro SE3 papers · 2022
Dipartimento di Matematica e Fisica, Università degli Studi Roma Tre, Via della Vasca Navale 84, 00146 Roma, Italy.
Papers in Europe PMC - 06Pettinelli E3 papers · 2022
Dipartimento di Matematica e Fisica, Università degli Studi Roma Tre, Via della Vasca Navale 84, 00146 Roma, Italy.
Papers in Europe PMC - 07Picardi G3 papers · 2007Papers in Europe PMC
- 08Safaeinili A3 papers · 2007Papers in Europe PMC
- 09Almutairi A2 papers · 2024
Pharmaceutical Chemistry, Materials Science, and Engineering and Nanoengineering, University of California, San Diego.
Papers in Europe PMC - 10Aloisi AM2 papers · 2026
Department of Medicine, Surgery and Neuroscience, University of Siena, via Aldo Moro, 2, 53100 Siena, Italy.
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). 1 trial are registered for congenital insensitivity to pain, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
1 interventional trial matched congenital insensitivity to pain, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital insensitivity to pain
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Congenital insensitivity to pain syndrome, Marsili type" OR "Marsili syndrome" OR "MARSIS" OR "congenital analgesia, autosomal dominant" OR "indifference to pain, congenital, autosomal dominant" OR "insensitivity to pain, congenital, autosomal dominant"
MeSH descriptor terms unioned into the query: Indifference to Pain, Congenital, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital insensitivity to pain syndrome, Marsili type" OR "Marsili syndrome" OR "MARSIS" OR "congenital analgesia, autosomal dominant" OR "indifference to pain, congenital, autosomal dominant" OR "insensitivity to pain, congenital, autosomal dominant"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital insensitivity to pain"
Query health: suspect — strategies attempted: phrase, mesh; 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
Ingested 2026-07-27T19:58:36.754Z