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ORPHA:637

Full NF2-related schwannomatosis

medium confidenceDisorder

Also known as: Full NF2 · Full neurofibromatosis type 2 · Nonmosaic NF2-related schwannomatosis · Nonmosaic neurofibromatosis type 2

Publications

13,453

98.2th percentile

Trials

36

Interventional, condition-specific

Researchers

1,161

Distinct authors in sample

Gene link

NF2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited cancer-predisposing syndrome disorder characterized by the development of multiple schwannomas, meningiomas and ependymoma. Schwannomas typically affect both vestibular nerves but also other cranial and peripheral nerves, leading to tinnitus, hearing loss and balance dysfunction. Intradermal schwannomas and ocular involvement (cataract, retinal hamartoma) are also typical.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

NF2 · NF2-related schwannomatosis · SWNV · bilateral acoustic neurofibromatosis · central neurofibromatosis · full NF2 · full neurofibromatosis type 2 · neurofibromatosis 2 · neurofibromatosis type 2 · nonmosaic NF2-related schwannomatosis · nonmosaic neurofibromatosis type 2

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 — NF2

  2. LiteraturePresent

    13,453 matched papers (7,616 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

    36 matched on ClinicalTrials.gov (5 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 (NF2).

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?

13,453

13,453 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.

13,453 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).

7,616 in the last 10 years · medium confidence · 98.2th percentile (publications denominator)

Phrase hits: 13,453 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,161

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
    Plotkin SR14 papers · 2026

    Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Evans DG13 papers · 2026

    Director, Neurofibromatosis Clinic, Manchester University Hospitals;, Foundation NHS Trust Regional Genetic Service, St Mary's Hospital, Manchester, United Kingdom

    Papers in Europe PMC
  3. 03
    Kalamarides M11 papers · 2026

    Sorbonne Université, AP-HP, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neurochirurgie, Paris, France.

    Papers in Europe PMC
  4. 04
    Blakeley JO8 papers · 2026

    Johns Hopkins University, Baltimore, Maryland, USA.

    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
    Welling DB7 papers · 2026

    Department of Otolargynology, Massachusetts Eye and Ear, Boston, MA, USA.

    Papers in Europe PMC
  7. 07
    Carlson ML6 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Mayo Clinic, MN.

    Papers in Europe PMC
  8. 08
    Tamura R6 papers · 2026

    Department of Neurosurgery, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-Ku, Tokyo, 160-8582, Japan. moltobello-r-610@keio.jp.

    Papers in Europe PMC
  9. 09
    Clapp DW5 papers · 2026

    Department of Pediatrics, Herman B Wells Center for Pediatric Research Department of Biochemistry, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  10. 10
    Fernandez-Valle C5 papers · 2026

    Burnett School of Biomedical Sciences, University of Central Florida, Orlando, FL, USA. cfv@ucf.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

36

interventional trials for this specific condition

36 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

36 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.1th percentile).

medium confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

7 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.

"Full NF2-related schwannomatosis" OR "Full NF2" OR "Full neurofibromatosis type 2" OR "Nonmosaic NF2-related schwannomatosis" OR "Nonmosaic neurofibromatosis type 2" OR "NF2-related schwannomatosis" OR "bilateral acoustic neurofibromatosis" OR "central neurofibromatosis" OR "neurofibromatosis 2" OR "neurofibromatosis type 2"

Run this search on Europe PMC

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

"Full NF2-related schwannomatosis" OR "Full NF2" OR "Full neurofibromatosis type 2" OR "Nonmosaic NF2-related schwannomatosis" OR "Nonmosaic neurofibromatosis type 2" OR "NF2-related schwannomatosis" OR "bilateral acoustic neurofibromatosis" OR "central neurofibromatosis" OR "neurofibromatosis 2" OR "neurofibromatosis type 2"

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: 36 interventional · 7 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: NF2; SWNV

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:39:17.769Z