ORPHA:634461
Mosaic neurofibromatosis type 1
Also known as: MNF1 · Mosaic NF1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
140
67.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,034
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The can be milder than in NF1.
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:0859763
- UMLS:C5782097
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
140 matched papers (108 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?
140
140 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.
140 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).
108 in the last 10 years · medium confidence · 67.8th percentile (publications denominator)
Phrase hits: 140 · MeSH hits: 0
Who's working on it?
1,034
Distinct author names in 140 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.
- 01Wimmer K8 papers · 2024
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 02Kehrer-Sawatzki H7 papers · 2022
Department of Human Genetics, University of Ulm, Ulm, Germany. hildegard.kehrer-sawatzki@medizin.uni-ulm.de
Papers in Europe PMC - 03Mautner VF7 papers · 2021
Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 04Ferner RE5 papers · 2017
Department of Neurology, Guy's Hospital, St Thomas' St, London SE1 9RT, UK. rosalie.ferner@kcl.ac.uk
Papers in Europe PMC - 05Huson SM5 papers · 2021
St. Mary's Hospital, University of Manchester, Manchester, UK.
Papers in Europe PMC - 06Korf BR5 papers · 2021
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Papers in Europe PMC - 07Legius E5 papers · 2021
Department of Human Genetics, KU Leuven-University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Messiaen L5 papers · 2021
Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address: lmessiaen@uabmc.edu.
Papers in Europe PMC - 09Pasmant E5 papers · 2024
Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Papers in Europe PMC - 10Ruggieri M5 papers · 2022
Department of Paediatrics, University of Catania, 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 neurofibromatosis type 1" OR "Mosaic NF1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mosaic neurofibromatosis type 1" OR "Mosaic NF1" 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: MNF1
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 2026-07-27T19:28:34.672Z