RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:252183

Neurofibroma

low confidenceDisorder

Publications

17,856

Trials

46

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare benign peripheral nerve sheath tumor characterized by a well-demarcated intraneural or diffusely infiltrative extraneural space-occupying lesion consisting of Schwann cells, perineurial-like cells, and fibroblasts. It presents as a cutaneous nodule, a circumscribed mass in a peripheral nerve, a plexiform enlargement of a major nerve trunk, or with diffuse but localized involvement of skin and subcutaneous tissue. Multiple neurofibromas are typically associated with neurofibromatosis 1. Malignant transformation occurs almost exclusively in plexiform neurofibromas and neurofibromas of major nerves.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

neurofibroma · neurofibroma (WHO grade I) · neurofibroma, benign

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.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    17,856 matched papers (7,778 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

    46 matched on ClinicalTrials.gov (10 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?

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?

17,856

17,856 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.

17,856 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).

7,778 in the last 10 years · low confidence

Phrase hits: 17,856 · MeSH hits: 386

Open Europe PMC search

Who's working on it?

1,070

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
    Liu J5 papers · 2026

    Department of Gynecology, The First People's Hospital of Xiaoshan District, Hangzhou, China.

    Papers in Europe PMC
  2. 02
    Wang J5 papers · 2026

    Department of Stomatology, Peking University People's Hospital.

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

    Department of Neurosurgery, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Yamada S4 papers · 2026

    Department of Neurosurgery, Nagoya City University Graduate School of Medical Sciences , ,

    Papers in Europe PMC
  5. 05
    Zhang J4 papers · 2026

    Department of General Practice, The Affiliated Hospital of Hebei University, Baoding, Hebei, China.

    Papers in Europe PMC
  6. 06
    Chen Y3 papers · 2026

    Department of Genetics, The University of Alabama at Birmingham, Alabama.

    Papers in Europe PMC
  7. 07
    Li Y3 papers · 2026

    Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  8. 08
    Song Y3 papers · 2026

    Department of Gastroenterology, Songjiang Hospital Affiliated to Shanghai Jiaotong University School of Medicine, No. 746, Zhongshanzhong Road, Songjiang District, Shanghai, 201600, China.

    Papers in Europe PMC
  9. 09
    Wang Y3 papers · 2026

    Institute of Medical Genetics, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Henan Province 450003, Zhengzhou, China.

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

    Department of Plastic Surgery, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing, 400038, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

46

interventional trials for this specific condition

46 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 27 July 2026

46 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.9th percentile).

low confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

15 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.

"Neurofibroma" OR "neurofibroma (WHO grade I)" OR "neurofibroma, benign"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neurofibroma

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

"Neurofibroma" OR "neurofibroma (WHO grade I)" OR "neurofibroma, benign"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 46 interventional · 15 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (17856) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T11:00:36.934Z