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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

4/6

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.”

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

    1,556,287 matched papers (930,491 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Atypical teratoid/rhabdoid tumor; Rhabdoid tumor of the kidney; Hydrocephalus) Source

  4. Animal modelPresent

    3 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

    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)

18

Associated phenotypes · MONDO:0020560

  • Atypical teratoid/rhabdoid tumor
  • Rhabdoid tumor of the kidney
  • Hydrocephalus
  • Apathy
  • Ataxia

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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

37

Drugs / clinical candidates · MONDO_0020560

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

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 59 (publications denominator n=3967).

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 11 September 2026

38 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.6th percentile).

low confidence · 96.6th 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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Atypical teratoid rhabdoid tumor — 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.

"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