RARE DISEASERESEARCH ATLAS

ORPHA:251646

Anaplastic ependymoma

low confidenceDisorder

Publications

2,875

Trials

31

Interventional, condition-specific

Researchers

1,205

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (15)

WHO grade III ependymal neoplasm · WHO grade III ependymal tumor · WHO grade III ependymal tumour · anaplastic ependymal neoplasm · anaplastic ependymal tumor · anaplastic ependymal tumour · anaplastic ependymoma · ependymoma, anaplastic, malignant · ependymoma, malignant · high-grade ependymoma · malignant ependymoma · undifferentiated ependymal neoplasm · undifferentiated ependymal tumor · undifferentiated ependymal tumour · undifferentiated ependymoma

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

    2,875 matched papers (1,785 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

    31 matched on ClinicalTrials.gov (3 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?

2,875

2,875 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,875 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).

1,785 in the last 10 years · low confidence

Phrase hits: 2,875 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,205

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
    Ichimura K4 papers · 2026

    Department of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Liu H4 papers · 2024

    Department of Neurosurgery, First Hospital of Jilin University, Changchun, China.

    Papers in Europe PMC
  3. 03
    Wang C4 papers · 2024

    Department of Neurosurgery, Qilu Hospital, Shandong University, Jinan, Shandong Province, China.

    Papers in Europe PMC
  4. 04
    Zhang H4 papers · 2025

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2026

    Department of Neurosurgery, Tsinghua University Yuquan Hospital (Tsinghua University Hospital of Integrated Traditional Chinese and Western Medicine), Beijing, China.

    Papers in Europe PMC
  6. 06
    Nobusawa S3 papers · 2022

    Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.

    Papers in Europe PMC
  7. 07
    Scalia G3 papers · 2023

    Neurosurgery Unit, Highly Specialized Hospital and of National Importance "Garibaldi", Catania, Italy.

    Papers in Europe PMC
  8. 08
    Wang J3 papers · 2024

    Department of Neurosurgery, Tsinghua University Yuquan Hospital (Tsinghua University Hospital of Integrated Traditional Chinese and Western Medicine), Beijing, China.

    Papers in Europe PMC
  9. 09
    Wang S3 papers · 2026

    Department of Neurosurgery, University of California, David Geffen School of Medicine, California, USA.

    Papers in Europe PMC
  10. 10
    Wang X3 papers · 2026

    Department of Pathology, First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

31

interventional trials for this specific condition

31 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

31 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.8th percentile).

low confidence · 95.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

"Anaplastic ependymoma" OR "WHO grade III ependymal neoplasm" OR "WHO grade III ependymal tumor" OR "WHO grade III ependymal tumour" OR "anaplastic ependymal neoplasm" OR "anaplastic ependymal tumor" OR "anaplastic ependymal tumour" OR "ependymoma, anaplastic, malignant" OR "ependymoma, malignant" OR "high-grade ependymoma" OR "malignant ependymoma" OR "undifferentiated ependymal neoplasm" OR "undifferentiated ependymal tumor" OR "undifferentiated ependymal tumour" OR "undifferentiated ependymoma"

Run this search on Europe PMC

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

"Anaplastic ependymoma" OR "WHO grade III ependymal neoplasm" OR "WHO grade III ependymal tumor" OR "WHO grade III ependymal tumour" OR "anaplastic ependymal neoplasm" OR "anaplastic ependymal tumor" OR "anaplastic ependymal tumour" OR "ependymoma, anaplastic, malignant" OR "ependymoma, malignant" OR "high-grade ependymoma" OR "malignant ependymoma" OR "undifferentiated ependymal neoplasm" OR "undifferentiated ependymal tumor" OR "undifferentiated ependymal tumour" OR "undifferentiated ependymoma"

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: 31 interventional · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2875) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:51:24.762Z