RARE DISEASERESEARCH ATLAS

ORPHA:252006

Yolk sac tumor of central nervous system

high confidenceSubtype of disorder

Also known as: Endodermal sinus tumor of CNS · Endodermal sinus tumor of central nervous system · Intracranial endodermal sinus tumor · Intracranial yolk sac tumor · Yolk sac tumor of CNS

Publications

49

32th percentile

Trials

6

Interventional, condition-specific

Researchers

244

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (22)

CNS yolk Sac tumor · CNS yolk Sac tumour · central nervous system yolk Sac tumor · central nervous system yolk Sac tumour · endodermal sinus tumor of CNS · endodermal sinus tumor of central nervous system · endodermal sinus tumour of CNS · endodermal sinus tumour of central nervous system · intracranial endodermal sinus tumor · intracranial endodermal sinus tumour · intracranial yolk sac tumor · intracranial yolk sac tumour · yolk Sac tumor of CNS · yolk Sac tumor of central nervous system · yolk Sac tumor of the CNS · yolk Sac tumor of the central nervous system · yolk Sac tumour of CNS · yolk Sac tumour of central nervous system · yolk Sac tumour of the CNS · yolk Sac tumour of the central nervous system · yolk sac tumor of CNS · yolk sac tumour of CNS

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

    49 matched papers (14 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

    6 matched on ClinicalTrials.gov

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?

49

49 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

49 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).

14 in the last 10 years · high confidence · 32th percentile (publications denominator)

Phrase hits: 49 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

244

Distinct author names in 49 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
    Chen X2 papers · 2026

    Department of Radiology, The Second Hospital of Shandong University, Jinan, Shandong 250033, P.R. China.

    Papers in Europe PMC
  2. 02
    Chen Y2 papers · 2024

    From the Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  3. 03
    Fujii M2 papers · 2013
    Papers in Europe PMC
  4. 04
    Ideguchi M2 papers · 2013
    Papers in Europe PMC
  5. 05
    Li C2 papers · 2021

    Department of Radiation Oncology, Hebei General Hospital, Shijiazhuang.

    Papers in Europe PMC
  6. 06
    Li L2 papers · 2026

    Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Liu Q2 papers · 2024

    Department of Radiology, Provincial Hospital of Shandong University, Jinan, Shandong 250021, P.R. China.

    Papers in Europe PMC
  8. 08
    Nomura S2 papers · 2013
    Papers in Europe PMC
  9. 09
    Suzuki M2 papers · 2013
    Papers in Europe PMC
  10. 10
    Takei Y2 papers · 1981
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

high confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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.

"Yolk sac tumor of central nervous system" OR "Yolk sac tumor of the central nervous system" OR "Endodermal sinus tumor of CNS" OR "Endodermal sinus tumor of the CNS" OR "Endodermal sinus tumor of central nervous system" OR "Endodermal sinus tumor of the central nervous system" OR "Intracranial endodermal sinus tumor" OR "Intracranial yolk sac tumor" OR "Yolk sac tumor of CNS" OR "Yolk sac tumor of the CNS" OR "CNS yolk Sac tumor" OR "CNS yolk Sac tumour" OR "central nervous system yolk Sac tumor" OR "central nervous system yolk Sac tumour" OR "endodermal sinus tumour of CNS" OR "endodermal sinus tumour of the CNS" OR "endodermal sinus tumour of central nervous system" OR "endodermal sinus tumour of the central nervous system" OR "intracranial endodermal sinus tumour" OR "intracranial yolk sac tumour" OR "yolk Sac tumour of CNS" OR "yolk Sac tumour of the CNS" OR "yolk Sac tumour of central nervous system" OR "yolk Sac tumour 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):

"Yolk sac tumor of central nervous system" OR "Yolk sac tumor of the central nervous system" OR "Endodermal sinus tumor of CNS" OR "Endodermal sinus tumor of the CNS" OR "Endodermal sinus tumor of central nervous system" OR "Endodermal sinus tumor of the central nervous system" OR "Intracranial endodermal sinus tumor" OR "Intracranial yolk sac tumor" OR "Yolk sac tumor of CNS" OR "Yolk sac tumor of the CNS" OR "CNS yolk Sac tumor" OR "CNS yolk Sac tumour" OR "central nervous system yolk Sac tumor" OR "central nervous system yolk Sac tumour" OR "endodermal sinus tumour of CNS" OR "endodermal sinus tumour of the CNS" OR "endodermal sinus tumour of central nervous system" OR "endodermal sinus tumour of the central nervous system" OR "intracranial endodermal sinus tumour" OR "intracranial yolk sac tumour" OR "yolk Sac tumour of CNS" OR "yolk Sac tumour of the CNS" OR "yolk Sac tumour of central nervous system" OR "yolk Sac tumour 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: 6 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

Ingested 2026-07-27T10:57:14.548Z