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ORPHA:99966

Atypical teratoid rhabdoid tumor

low confidenceDisorder

Also known as: ATRT

Publications

1,556,287

Trials

38

Interventional, condition-specific

Researchers

1,249

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.

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 (42)

AT/RT · ATT/RHT · CNS rhabdoid neoplasm · CNS rhabdoid tumor · CNS rhabdoid tumour · atypical teratoid/rhabdoid tumor · atypical teratoid/rhabdoid tumor (WHO grade IV) · atypical teratoid/rhabdoid tumor (morphologic abnormality) · atypical teratoid/rhabdoid tumour (WHO grade IV) · atypical teratoid/rhabdoid tumour (morphologic abnormality) · central nervous system rhabdoid neoplasm · central nervous system rhabdoid tumor · central nervous system rhabdoid tumour · malignant brain rhabdoid neoplasm · malignant brain rhabdoid tumor · malignant brain rhabdoid tumour · malignant rhabdoid neoplasm of brain · malignant rhabdoid neoplasm of the brain · malignant rhabdoid tumor of brain · malignant rhabdoid tumor of the brain · malignant rhabdoid tumour of brain · malignant rhabdoid tumour of the brain · primary malignant brain rhabdoid neoplasm · primary malignant brain rhabdoid tumor · primary malignant brain rhabdoid tumour · primary malignant rhabdoid neoplasm of brain · primary malignant rhabdoid neoplasm of the brain · primary malignant rhabdoid tumor of brain · primary malignant rhabdoid tumor of the brain · primary malignant rhabdoid tumour of brain · primary malignant rhabdoid tumour of the brain · rhabdoid neoplasm of CNS · rhabdoid neoplasm of central nervous system · rhabdoid neoplasm of the CNS · rhabdoid neoplasm of the central nervous system · rhabdoid tumor of CNS · rhabdoid tumor of central nervous system · rhabdoid tumor of the CNS · rhabdoid tumor of the central nervous system · rhabdoid tumour of CNS · rhabdoid tumour of central nervous system · rhabdoid tumour of the central nervous system

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

    1,556,287 matched papers (930,491 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

    38 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?

1,556,287

1,556,287 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.

1,556,287 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).

930,491 in the last 10 years · low confidence

Phrase hits: 1,556,287 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,249

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
    Huang A5 papers · 2026

    Division of Haematology/Oncology, Hospital for Sick Children, Department of Pediatrics, Arthur and Sonia Labatt Brain Tumor Research Centre, University of Toronto, Toronto, Canada (D.P., A.B., F.Y., M.L., A.H.).

    Papers in Europe PMC
  2. 02
    Frühwald MC4 papers · 2026

    Pediatrics and Adolescent Medicine, University Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.

    Papers in Europe PMC
  3. 03
    Hasselblatt M4 papers · 2026

    Institute of Neuropathology, University Hospital Münster, Münster, Germany.

    Papers in Europe PMC
  4. 04
    Sahm F4 papers · 2025

    Department of Neuropathology, Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Crotty EE3 papers · 2026

    The Ben Towne Center for Childhood Cancer and Blood Disorders Research, Seattle Children's Research Institute, Seattle (S.M.M., E.J.G., E.E.C., K.B., M.C.B., H.C., J.M.O.).

    Papers in Europe PMC
  6. 06
    Das S3 papers · 2026

    University of Alberta and Stollery Children's Hospital, Edmonton, AB, Canada.

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

    Division of Pediatric Oncology, Johns Hopkins University School of Medicine and Johns Hopkins Hospital, Bloomberg Children's Center, Baltimore, MD, USA 21205.

    Papers in Europe PMC
  8. 08
    El-Beltagy M3 papers · 2025

    Department of Neurosurgery, Children's Cancer Hospital Egypt 57357, Cairo 11441, Egypt.

    Papers in Europe PMC
  9. 09
    Fouladi M3 papers · 2026

    Pediatric Neuro-Oncology Program, Nationwide Children's Hospital, Columbus (M.F.).

    Papers in Europe PMC
  10. 10
    Gajjar A3 papers · 2026

    Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

38

interventional trials for this specific condition

38 interventional trials matched this specific condition name; 10 currently recruiting in our sample. 39 trials are registered for rhabdoid tumor, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

38 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.4th percentile).

low confidence · 96.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: rhabdoid tumor

39

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

4 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.

"Atypical teratoid rhabdoid tumor" OR "AT/RT" OR "ATT/RHT" OR "CNS rhabdoid neoplasm" OR "CNS rhabdoid tumor" OR "CNS rhabdoid tumour" OR "atypical teratoid/rhabdoid tumor" OR "atypical teratoid/rhabdoid tumor (WHO grade IV)" OR "atypical teratoid/rhabdoid tumor (morphologic abnormality)" OR "atypical teratoid/rhabdoid tumour (WHO grade IV)" OR "atypical teratoid/rhabdoid tumour (morphologic abnormality)" OR "central nervous system rhabdoid neoplasm" OR "central nervous system rhabdoid tumor" OR "central nervous system rhabdoid tumour" OR "malignant brain rhabdoid neoplasm" OR "malignant brain rhabdoid tumor" OR "malignant brain rhabdoid tumour" OR "malignant rhabdoid neoplasm of brain" OR "malignant rhabdoid neoplasm of the brain" OR "malignant rhabdoid tumor of brain" OR "malignant rhabdoid tumor of the brain" OR "malignant rhabdoid tumour of brain" OR "malignant rhabdoid tumour of the brain" OR "primary malignant brain rhabdoid neoplasm" OR "primary malignant brain rhabdoid tumor" OR "primary malignant brain rhabdoid tumour" OR "primary malignant rhabdoid neoplasm of brain" OR "primary malignant rhabdoid neoplasm of the brain" OR "primary malignant rhabdoid tumor of brain" OR "primary malignant rhabdoid tumor of the brain" OR "primary malignant rhabdoid tumour of brain" OR "primary malignant rhabdoid tumour of the brain" OR "rhabdoid neoplasm of CNS" OR "rhabdoid neoplasm of the CNS" OR "rhabdoid neoplasm of central nervous system" OR "rhabdoid neoplasm of the central nervous system" OR "rhabdoid tumor of CNS" OR "rhabdoid tumor of the CNS" OR "rhabdoid tumor of central nervous system" OR "rhabdoid tumor of the central nervous system"

Run this search on Europe PMC

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

"Atypical teratoid rhabdoid tumor" OR "AT/RT" OR "ATT/RHT" OR "CNS rhabdoid neoplasm" OR "CNS rhabdoid tumor" OR "CNS rhabdoid tumour" OR "atypical teratoid/rhabdoid tumor" OR "atypical teratoid/rhabdoid tumor (WHO grade IV)" OR "atypical teratoid/rhabdoid tumor (morphologic abnormality)" OR "atypical teratoid/rhabdoid tumour (WHO grade IV)" OR "atypical teratoid/rhabdoid tumour (morphologic abnormality)" OR "central nervous system rhabdoid neoplasm" OR "central nervous system rhabdoid tumor" OR "central nervous system rhabdoid tumour" OR "malignant brain rhabdoid neoplasm" OR "malignant brain rhabdoid tumor" OR "malignant brain rhabdoid tumour" OR "malignant rhabdoid neoplasm of brain" OR "malignant rhabdoid neoplasm of the brain" OR "malignant rhabdoid tumor of brain" OR "malignant rhabdoid tumor of the brain" OR "malignant rhabdoid tumour of brain" OR "malignant rhabdoid tumour of the brain" OR "primary malignant brain rhabdoid neoplasm" OR "primary malignant brain rhabdoid tumor" OR "primary malignant brain rhabdoid tumour" OR "primary malignant rhabdoid neoplasm of brain" OR "primary malignant rhabdoid neoplasm of the brain" OR "primary malignant rhabdoid tumor of brain" OR "primary malignant rhabdoid tumor of the brain" OR "primary malignant rhabdoid tumour of brain" OR "primary malignant rhabdoid tumour of the brain" OR "rhabdoid neoplasm of CNS" OR "rhabdoid neoplasm of the CNS" OR "rhabdoid neoplasm of central nervous system" OR "rhabdoid neoplasm of the central nervous system" OR "rhabdoid tumor of CNS" OR "rhabdoid tumor of the CNS" OR "rhabdoid tumor of central nervous system" OR "rhabdoid tumor of the central nervous system"

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: 38 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"rhabdoid tumor"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ATRT; rhabdoid tumour of CNS; rhabdoid tumour of the CNS; rhabdoid tumour of central nervous system; rhabdoid tumour of the central nervous system

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1556287) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:47:57.157Z