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ORPHA:252183

Neurofibroma

low confidenceDisorder

Publications

17,856

Trials

46

Interventional, condition-specific

Researchers

1,070

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    28 HPO annotations (e.g. Paraspinal neurofibroma; Neoplasm of the trachea; Skin tags) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

28

Associated phenotypes · MONDO:0016755

  • Paraspinal neurofibroma
  • Neoplasm of the trachea
  • Skin tags
  • Neurofibroma
  • Peripheral nerve compression

Showing 5 of 28 — open Monarch for the full list.

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

2

Drugs / clinical candidates · MONDO_0016755

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

17,856 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).

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 11 September 2026

46 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

low confidence · 97th 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

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 62 · after dedupe 61 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 61 · 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).

Uncertain / not reviewed (61)

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 Neurofibroma — check Associations / patient organisations on that page.

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