ORPHA:634475
Mosaic NF2-related schwannomatosis
Also known as: MNF2 · Mosaic NF2 · Mosaic neurofibromatosis type 2
Publications
139
57.1th percentile
Trials
0
Interventional, condition-specific
Researchers
812
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The can be milder than in NF2-related schwannomatosis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0859764
- UMLS:C5816778
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
139 matched papers (102 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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
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?
139
139 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.
139 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).
102 in the last 10 years · medium confidence · 57.1th percentile (publications denominator)
Phrase hits: 139 · MeSH hits: 0
Who's working on it?
812
Distinct author names in 139 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.
- 01Evans DG31 papers · 2025
Medical Genetics Research Group, Regional Genetics Service and National Molecular Genetics Reference Laboratory, Central Manchester Foundation Trust, St Mary's Hospital, Manchester M130JH, UK. dgr.evans@virgin.net
Papers in Europe PMC - 02Smith MJ16 papers · 2025
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.
Papers in Europe PMC - 03Wallace AJ13 papers · 2022
Manchester Centre for Genomic Medicine, Central Manchester NHS Foundation Trust, St Mary's Hospital, Manchester, UK.
Papers in Europe PMC - 04Bowers NL9 papers · 2022
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Papers in Europe PMC - 05Halliday D9 papers · 2023
Medical Genetics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Papers in Europe PMC - 06King AT8 papers · 2022
Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England.
Papers in Europe PMC - 07Blakeley JO7 papers · 2025
Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA.
Papers in Europe PMC - 08Rutherford SA7 papers · 2022
Department of Neurosurgery, Manchester Centre for Clinical Neuroscience, Salford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, England.
Papers in Europe PMC - 09Axon P6 papers · 2020
Cambridge Skull Base Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Papers in Europe PMC - 10Papi L6 papers · 2024
Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Section of Medical Genetics, University of Florence, Florence, 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).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Mosaic NF2-related schwannomatosis — check Associations / patient organisations on that page.
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.
"Mosaic NF2-related schwannomatosis" OR "Mosaic NF2" OR "Mosaic neurofibromatosis type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mosaic NF2-related schwannomatosis" OR "Mosaic NF2" OR "Mosaic neurofibromatosis type 2"
Study-type breakdown: 0 interventional · 0 observational · 0 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: MNF2
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
Ingested 2026-07-27T19:28:43.634Z