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ORPHA:69077

Rhabdoid tumor

low confidenceDisorder

Also known as: Malignant rhabdoid tumor

Publications

7,487

Trials

77

Interventional, condition-specific

Researchers

1,489

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

malignant rhabdoid tumor · rhabdoid sarcoma · rhabdoid tumor

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

    7,487 matched papers (4,552 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

    77 matched on ClinicalTrials.gov (19 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?

7,487

7,487 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.

7,487 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).

4,552 in the last 10 years · low confidence

Phrase hits: 7,487 · MeSH hits: 128

Open Europe PMC search

Who's working on it?

1,489

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 J9 papers · 2026

    Department of Neurosurgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

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

    Department of Pathology, The First People's Hospital of Yunnan Province / The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.

    Papers in Europe PMC
  3. 03
    Li J6 papers · 2026

    Department of Oncology, Children's Hospital of Nanjing Medical University, Code 8, Jiangdongnan Road, Nanjing, Jiangsu Province, China.

    Papers in Europe PMC
  4. 04
    Drost J5 papers · 2026

    Utrecht University, Division Cell Biology, Metabolism & Cancer, Department Biomolecular Health Sciences, Faculty of Veterinary Medicine, Utrecht, the Netherlands.

    Papers in Europe PMC
  5. 05
    Wang L5 papers · 2026

    Department of Pathology, The First People's Hospital of Yunnan Province / The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.

    Papers in Europe PMC
  6. 06
    Zhang Z5 papers · 2026

    Department of Urology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, International Science and Technology Cooperation base of Child Development and Critical Disorders, Chongqing, 400014, PR China; Chongqing Key Laboratory of Children Urogenital Development and Tissue Engineering, Chongqing, 400014, PR China.

    Papers in Europe PMC
  7. 07
    Zhou J5 papers · 2025

    Department of Urology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.

    Papers in Europe PMC
  8. 08
    Frühwald MC4 papers · 2026

    Bavarian Cancer Research Center (BZKF), Augsburg, Germany.

    Papers in Europe PMC
  9. 09
    He L4 papers · 2025

    Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  10. 10
    Li T4 papers · 2025

    Department of Oncology, Children's Hospital of Nanjing Medical University, Code 8, Jiangdongnan Road, Nanjing, Jiangsu Province, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

77

interventional trials for this specific condition

77 interventional trials matched this specific condition name; 19 currently recruiting in our sample.

Data as of 27 July 2026

77 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.1th percentile).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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.

"Rhabdoid tumor" OR "Malignant rhabdoid tumor" OR "rhabdoid sarcoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rhabdoid Tumor

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

"Rhabdoid tumor" OR "Malignant rhabdoid tumor" OR "rhabdoid sarcoma"

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: 77 interventional · 11 observational · 2 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7487) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:27:22.850Z