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ORPHA:654

Nephroblastoma

medium confidenceDisorder

Also known as: Renal embryonic tumor · Wilms tumor

Publications

41,615

98.5th percentile

Trials

88

Interventional, condition-specific

Researchers

1,264

Distinct authors in sample

Gene link

—

Readiness

4/6

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.”

4/6 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 characterisedPresent

    28 HPO annotations (e.g. Cryptorchidism; Hypospadias; Ectopic kidney) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  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)

28

Associated phenotypes · MONDO:0019004

  • Cryptorchidism
  • Hypospadias
  • Ectopic kidney
  • Hypertension
  • Weight loss

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

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

3

Drugs / clinical candidates · MONDO_0019004

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

41,615 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).

19,961 in the last 10 years · medium confidence · 98.5th 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 11 September 2026

88 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.3th percentile).

medium confidence · 98.3th 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

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-29

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 (9)

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 Nephroblastoma — 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.

"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