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ORPHA:93921

Full schwannomatosis

low confidenceDisorder

Also known as: Full NF3 · Full SWN · Full neurofibromatosis type 3 · Neurilemmomatosis · Nonmosaic schwannomatosis

Publications

3,666

Trials

10

Interventional, condition-specific

Researchers

1,107

Distinct authors in sample

Gene link

LZTR1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of neurofibromatosis characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves, and often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.

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 (6)

NF3 · Neurinomatosis · Schwannomatosis · neurilemmomatosis · neurofibromatosis type 3 · schwannomatosis

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 identifiedPresent

    Definitive — LZTR1

  2. LiteraturePresent

    3,666 matched papers (2,946 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Meningioma; Vestibular schwannoma; Peripheral schwannoma) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    10 matched on ClinicalTrials.gov (6 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 (LZTR1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0008075

  • Meningioma
  • Vestibular schwannoma
  • Peripheral schwannoma
  • Spinal cord tumor
  • Schwannoma

Showing 5 of 33 — 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)

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

2

Drugs / clinical candidates · MONDO_0008075

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

3,666

3,666 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=3967) is 59.

3,666 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).

2,946 in the last 10 years · low confidence

Phrase hits: 2,390 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,107

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
    Kalamarides M13 papers · 2026

    Department of Neurosurgery, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, APHP, Sorbonne Universités, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

    Papers in Europe PMC
  2. 02
    Evans DG12 papers · 2026

    Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.

    Papers in Europe PMC
  3. 03
    Plotkin SR12 papers · 2026

    From Massachusetts General Hospital and Harvard Medical School (S.R.P., V.L.M.) and the Dana-Farber Cancer Institute (G.F., L.T.) - all in Boston; the NYU Grossman School of Medicine (K.H.Y.) and the Children's Tumor Foundation (A.B.) - both in New York; the University of California, Los Angeles, Los Angeles (P.L.N.); the University of Miami Miller School of Medicine, Sylvester Comprehensive Cancer Center, Miami (C.T.D.); the Mayo Clinic, Rochester, MN (D.B.-V.); and Johns Hopkins University, Baltimore (J.O.B.).

    Papers in Europe PMC
  4. 04
    Smith MJ9 papers · 2026

    Geoffrey Jefferson Brain Research Centre, Northern Care Alliance NHS Foundation Trust, Manchester, UK.

    Papers in Europe PMC
  5. 05
    Peyre M8 papers · 2026

    Department of Neurosurgery, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, APHP, Sorbonne Universités, 47-83 boulevard de l'Hôpital, 75013, Paris, France. matthieu.peyre@aphp.fr.

    Papers in Europe PMC
  6. 06
    Blakeley JO7 papers · 2026

    From Massachusetts General Hospital and Harvard Medical School (S.R.P., V.L.M.) and the Dana-Farber Cancer Institute (G.F., L.T.) - all in Boston; the NYU Grossman School of Medicine (K.H.Y.) and the Children's Tumor Foundation (A.B.) - both in New York; the University of California, Los Angeles, Los Angeles (P.L.N.); the University of Miami Miller School of Medicine, Sylvester Comprehensive Cancer Center, Miami (C.T.D.); the Mayo Clinic, Rochester, MN (D.B.-V.); and Johns Hopkins University, Baltimore (J.O.B.).

    Papers in Europe PMC
  7. 07
    Tamura R7 papers · 2026

    Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    King AT6 papers · 2026

    Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Manchester, UK.

    Papers in Europe PMC
  9. 09
    Toda M6 papers · 2026

    Department of Neurosurgery, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Pathmanaban ON5 papers · 2026

    Manchester Centre for Clinical Neurosciences, Salford Royal Hospital, Manchester, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

low confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Full schwannomatosis — 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.

("Full schwannomatosis" OR "Full NF3" OR "Full SWN" OR "Full neurofibromatosis type 3" OR "Neurilemmomatosis" OR "Nonmosaic schwannomatosis" OR "Neurinomatosis" OR "Schwannomatosis" OR "neurofibromatosis type 3") OR ("LZTR1" OR "LZTR1 syndrome" OR "LZTR1-related")

Run this search on Europe PMC

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

"Full schwannomatosis" OR "Full NF3" OR "Full SWN" OR "Full neurofibromatosis type 3" OR "Neurilemmomatosis" OR "Nonmosaic schwannomatosis" OR "Neurinomatosis" OR "Schwannomatosis" OR "neurofibromatosis type 3"

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: 10 interventional · 1 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NF3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3666) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:30:44.106Z