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ORPHA:616

Medulloblastoma

medium confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

42,921

99.4th percentile

Trials

206

Interventional, condition-specific

Researchers

1,569

Distinct authors in sample

Gene link

BRCA2, ELP1, GPR161

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare embryonic tumor of the neuroepithelial tissue characterized clinically by increased intracranial pressure and cerebellar dysfunction, with the most common presenting symptoms being headache, vomiting, and . The disease can be classified according to histological (classic, anaplastic, large-cell, or desmoplatic medulloblastoma, or medulloblastoma with extensive nodularity) and molecular criteria (WNT-activated, sonic-hedgehog-activated, group 3, group 4).

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 (7)

cerebellum embryonal neoplasm · medulloblastoma · medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation · medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation · medulloblastoma, malignant · medulloblastoma, somatic · medulloblastomas

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BRCA2, ELP1, GPR161, SMO, SUFU

  2. LiteraturePresent

    42,921 matched papers (24,587 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

    206 matched on ClinicalTrials.gov (40 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?

Yes — we know a specific gene responsible (BRCA2, ELP1, GPR161…).

GenCC classification: Definitive.

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?

42,921

42,921 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.

42,921 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).

24,587 in the last 10 years · medium confidence · 99.4th percentile (publications denominator)

Phrase hits: 42,921 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,569

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
    Korshunov A7 papers · 2026

    Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

    Papers in Europe PMC
  2. 02
    Pfister SM7 papers · 2026

    Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany

    Papers in Europe PMC
  3. 03
    Bouffet E5 papers · 2026

    Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.

    Papers in Europe PMC
  4. 04
    Rutkowski S5 papers · 2026

    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg- Eppendorf, Hamburg, Germany

    Papers in Europe PMC
  5. 05
    Taylor MD5 papers · 2026

    Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. mdt.cns@gmail.com.

    Papers in Europe PMC
  6. 06
    Chang SD4 papers · 2025

    Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA 94304, USA.

    Papers in Europe PMC
  7. 07
    Das A4 papers · 2026

    Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Körber V4 papers · 2025

    Division of Theoretical Systems Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany

    Papers in Europe PMC
  9. 09
    Mynarek M4 papers · 2026

    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg- Eppendorf, Hamburg, Germany

    Papers in Europe PMC
  10. 10
    Ramaswamy V4 papers · 2026

    The Arthur and Sonia Labatt Brain Tumor Research Center, The Hospital for Sick Children, Toronto, Ontario, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

206

interventional trials for this specific condition

206 interventional trials matched this specific condition name; 40 currently recruiting in our sample.

Data as of 27 July 2026

206 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.3th percentile).

medium confidence · 99.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

25 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.

"Medulloblastoma" OR "cerebellum embryonal neoplasm" OR "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" OR "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" OR "medulloblastoma, malignant" OR "medulloblastoma, somatic" OR "medulloblastomas"

Run this search on Europe PMC

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

"Medulloblastoma" OR "cerebellum embryonal neoplasm" OR "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" OR "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" OR "medulloblastoma, malignant" OR "medulloblastoma, somatic" OR "medulloblastomas" OR "ELP1" OR "GPR161" OR "SMO"

Recall-expansion terms: ELP1, GPR161, SMO

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: 206 interventional · 25 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T14:34:17.241Z