ORPHA:634475
Mosaic NF2-related schwannomatosis
Also known as: MNF2 · Mosaic NF2 · Mosaic neurofibromatosis type 2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
139
66.6th 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 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 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)
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?
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=5449) is 41.
139 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).
102 in the last 10 years · medium confidence · 66.6th 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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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" OR "mosaic neurofibromatosis/schwannomatosis"
Recall-expansion terms: mosaic neurofibromatosis/schwannomatosis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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