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ORPHA:653728

Congenital insensitivity to pain syndrome, Marsili type

high confidenceDisorder

Also known as: Marsili syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

90

54.3th percentile

Trials

1

Interventional, condition-specific

Researchers

687

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

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.”

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

    90 matched papers (80 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Pain insensitivity; Impaired temperature sensation; Recurrent fever) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

9

Associated phenotypes · MONDO:0958106

  • Pain insensitivity
  • Impaired temperature sensation
  • Recurrent fever
  • Headache
  • Painless fractures due to injury

Showing 5 of 9 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

90 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).

80 in the last 10 years · high confidence · 54.3th percentile (publications denominator)

Phrase hits: 90 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

687

Distinct author names in 90 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
    Orosei R5 papers · 2022

    Istituto Nazionale di Astrofisica, Istituto di Radioastronomia, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Campbell BA4 papers · 2024

    Smithsonian Institution, MRC 315, PO Box 37012, Washington, DC 20013-7012.

    Papers in Europe PMC
  3. 03
    Phillips 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
  4. 04
    Plaut JJ4 papers · 2024

    Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA 91109 USA.

    Papers in Europe PMC
  5. 05
    Lauro 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
  6. 06
    Pettinelli 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
  7. 07
    Picardi G3 papers · 2007
    Papers in Europe PMC
  8. 08
    Safaeinili A3 papers · 2007
    Papers in Europe PMC
  9. 09
    Almutairi A2 papers · 2024

    Pharmaceutical Chemistry, Materials Science, and Engineering and Nanoengineering, University of California, San Diego.

    Papers in Europe PMC
  10. 10
    Aloisi 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 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 11 September 2026 · last trial check 11 August 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Congenital insensitivity to pain syndrome, Marsili type — 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.

"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"

Run this search on Europe PMC

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"

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: 1 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