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ORPHA:654

Nephroblastoma

medium confidenceDisorder

Also known as: Renal embryonic tumor · Wilms tumor

Publications

41,615

99.3th percentile

Trials

88

Interventional, condition-specific

Researchers

1,264

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

Wilms tumor of the kidney · Wilms tumour of the kidney · Wilms' Tumor · Wilms' tumor of the kidney · Wilms' tumour of the kidney · kidney Wilms tumor · nephroblastoma · nephroblastoma, malignant · renal Wilms tumor · renal Wilms tumour · renal Wilms' tumor · renal embryonic tumor · renal embryonic tumour

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

    41,615 matched papers (19,961 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

    88 matched on ClinicalTrials.gov (18 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?

41,615

41,615 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.

41,615 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).

19,961 in the last 10 years · medium confidence · 99.3th percentile (publications denominator)

Phrase hits: 41,615 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,264

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
    Wang J7 papers · 2026

    Department of Pediatric Surgery, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.

    Papers in Europe PMC
  2. 02
    Wang Y7 papers · 2026

    Department of Pathology, Children's Hospital of Soochow University, Soochow University, Suzhou, Jiangsu, China.

    Papers in Europe PMC
  3. 03
    Zhang S7 papers · 2026

    Medical Oncology, Shanghai Cancer Center, Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Furtwängler R5 papers · 2026

    Department of Paediatric Haematology and Oncology, Saarland University Hospital, Homburg, Germany.

    Papers in Europe PMC
  5. 05
    Graf N5 papers · 2026

    Department of Paediatric Haematology and Oncology, Saarland University Hospital, Homburg, Germany.

    Papers in Europe PMC
  6. 06
    Spreafico F5 papers · 2026

    Department of Medical Oncology and Hematology, Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Via G. Venezian 1, 20133, Milan, Italy. filippo.spreafico@istitutotumori.mi.it.

    Papers in Europe PMC
  7. 07
    Verschuur A5 papers · 2026

    Department of Pediatric Oncology and Hematology, La Timone Children's Hospital, AP-HM, Marseille, France.

    Papers in Europe PMC
  8. 08
    Li L4 papers · 2026

    Department of Cardiac Surgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 9677 Jingshi Road, Jinan, 250021, China. Electronic address: llb201717@outlook.com.

    Papers in Europe PMC
  9. 09
    Li Y4 papers · 2026

    Department of Pediatric Surgery, Cheeloo College of Medicine, Qilu Hospital, Shandong University, 107 Wenhua West Road, Jinan, 250012, China.

    Papers in Europe PMC
  10. 10
    Li Z4 papers · 2026

    Department of Obstetrics and Gynecology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, P.R. China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

88

interventional trials for this specific condition

88 interventional trials matched this specific condition name; 18 currently recruiting in our sample.

Data as of 27 July 2026

88 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.2th percentile).

medium confidence · 98.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

30 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.

"Nephroblastoma" OR "Renal embryonic tumor" OR "Wilms tumor" OR "Wilms tumor of the kidney" OR "Wilms tumor of kidney" OR "Wilms tumour of the kidney" OR "Wilms tumour of kidney" OR "Wilms' Tumor" OR "Wilms' tumor of the kidney" OR "Wilms' tumor of kidney" OR "Wilms' tumour of the kidney" OR "Wilms' tumour of kidney" OR "kidney Wilms tumor" OR "nephroblastoma, malignant" OR "renal Wilms tumor" OR "renal Wilms tumour" OR "renal Wilms' tumor" OR "renal embryonic tumour"

Run this search on Europe PMC

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

"Nephroblastoma" OR "Renal embryonic tumor" OR "Wilms tumor" OR "Wilms tumor of the kidney" OR "Wilms tumor of kidney" OR "Wilms tumour of the kidney" OR "Wilms tumour of kidney" OR "Wilms' Tumor" OR "Wilms' tumor of the kidney" OR "Wilms' tumor of kidney" OR "Wilms' tumour of the kidney" OR "Wilms' tumour of kidney" OR "kidney Wilms tumor" OR "nephroblastoma, malignant" OR "renal Wilms tumor" OR "renal Wilms tumour" OR "renal Wilms' tumor" OR "renal embryonic tumour"

Interventional trials matched via: 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: 88 interventional · 30 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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

Ingested 2026-07-26T14:47:18.931Z