RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:636

Neurofibromatosis type 1

medium confidenceDisorder

Also known as: Nonmosaic NF1 · Nonmosaic neurofibromatosis type 1 · Von Recklinghausen disease

Publications

28,661

98.9th percentile

Trials

117

Interventional, condition-specific

Researchers

1,274

Distinct authors in sample

Gene link

NF1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

NF1 · Neurofibromatosis 1 · Nf1-Microdeletion syndrome · neurofibromatosis 1 · neurofibromatosis type 1 · neurofibromatosis type i · neurofibromatosis, type 1 · nonmosaic NF1 · nonmosaic neurofibromatosis type 1 · peripheral neurofibromatosis

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 — NF1

  2. LiteraturePresent

    28,661 matched papers (13,587 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

    117 matched on ClinicalTrials.gov (23 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 (NF1).

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?

28,661

28,661 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.

28,661 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).

13,587 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 28,661 · MeSH hits: 160

Open Europe PMC search

Who's working on it?

1,274

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
    Payne JM6 papers · 2026

    Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.

    Papers in Europe PMC
  2. 02
    Walsh KS4 papers · 2026

    Children's National Hospital, USA.

    Papers in Europe PMC
  3. 03
    Wang Z4 papers · 2026

    Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, No.639, Zhizaoju Road, Shanghai, 200011, China. shmuwzc@163.com.

    Papers in Europe PMC
  4. 04
    Yang Y4 papers · 2026

    Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, No.1665, Kongjiang Road, Shanghai, 200092, China.

    Papers in Europe PMC
  5. 05
    Blakeley JO3 papers · 2026

    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Ejerskov C3 papers · 2026

    Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital.

    Papers in Europe PMC
  7. 07
    Garg S3 papers · 2026

    Jhalawar Medical College, Rajasthan, India.

    Papers in Europe PMC
  8. 08
    Gupta A3 papers · 2026

    Department of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

    Papers in Europe PMC
  9. 09
    Gutmann DH3 papers · 2026

    Department of Neurology, Washington University, St. Louis, MO. Electronic address: gutmannd@wustl.edu.

    Papers in Europe PMC
  10. 10
    Li Y3 papers · 2026

    Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

117

interventional trials for this specific condition

117 interventional trials matched this specific condition name; 23 currently recruiting in our sample. 48 trials are registered for neurofibromatosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

117 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.7th percentile).

medium confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: neurofibromatosis

48

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

58 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.

"Neurofibromatosis type 1" OR "Nonmosaic NF1" OR "Nonmosaic neurofibromatosis type 1" OR "Von Recklinghausen disease" OR "Neurofibromatosis 1" OR "Nf1-Microdeletion syndrome" OR "neurofibromatosis type i" OR "neurofibromatosis, type 1" OR "peripheral neurofibromatosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neurofibromatosis 1

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

"Neurofibromatosis type 1" OR "Nonmosaic NF1" OR "Nonmosaic neurofibromatosis type 1" OR "Von Recklinghausen disease" OR "Neurofibromatosis 1" OR "Nf1-Microdeletion syndrome" OR "neurofibromatosis type i" OR "neurofibromatosis, type 1" OR "peripheral neurofibromatosis"

Interventional trials matched via: both, 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: 117 interventional · 58 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neurofibromatosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: NF1

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 2026-07-26T14:39:17.742Z