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ORPHA:876

Yolk sac tumor

low confidenceDisorder

Also known as: Endodermal sinus tumor

Publications

7,652

Trials

21

Interventional, condition-specific

Researchers

1,132

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare germ cell tumor characterized by multiple patterns reflecting endodermal extraembryonal differentiation (secondary yolk sac and allantois) or endodermal somatic tissues (intestine, liver, and mesenchyme). The tumors most commonly occur in the second or third decade of life. They are typically located in the gonads, occasionally also in other regions. Patients present with a pelvic mass and/or abdominal pain (females) or an often painless, unilateral testicular mass (males). Elevated serum alpha fetoprotein is a common laboratory finding.

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 (9)

endodermal sinus neoplasm · endodermal sinus tumor · hepatoid yolk sac tumor · yolk SAC tumor, malignant · yolk Sac neoplasm · yolk Sac tumor · yolk Sac tumor site unspecified · yolk Sac tumour site unspecified · yolk sac tumor

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

    7,652 matched papers (3,729 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

    21 matched on ClinicalTrials.gov (7 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?

7,652

7,652 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.

7,652 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).

3,729 in the last 10 years · low confidence

Phrase hits: 7,652 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,132

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
    Ulbright TM13 papers · 2026

    Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA.

    Papers in Europe PMC
  2. 02
    Acosta AM11 papers · 2026

    Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.

    Papers in Europe PMC
  3. 03
    Idrees MT8 papers · 2026

    Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.

    Papers in Europe PMC
  4. 04
    Ricci C8 papers · 2026

    Pathology Unit, Maggiore Hospital-AUSL Bologna, Bologna, Italy; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Yang J7 papers · 2026

    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing, China. Electronic address: yangjiaxin@pumch.cn.

    Papers in Europe PMC
  6. 06
    Fiorentino M6 papers · 2026

    Pathology Unit, Maggiore Hospital-AUSL Bologna, Bologna, Italy; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy. Electronic address: michelangelo.fiorentino@unibo.it.

    Papers in Europe PMC
  7. 07
    Ambrosi F5 papers · 2026

    Pathology Unit, Maggiore Hospital-AUSL Bologna, Bologna, Italy; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Zhang X5 papers · 2025

    Department of Pathology, Jining No. 1 People's Hospital, Jining, Shandong, China.

    Papers in Europe PMC
  9. 09
    Zhang Y5 papers · 2026

    Department of Urology, Anhui Provincial Children's Hospital, Children's Hospital of Fudan University (Affiliated Anhui Branch), No. 39 Wangjing East Road, Hefei, 230000, Anhui Province, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Cao D4 papers · 2026

    National Clinical Research Center for Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

21

interventional trials for this specific condition

21 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 27 July 2026

21 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.7th percentile).

low confidence · 94.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

"Yolk sac tumor" OR "Endodermal sinus tumor" OR "endodermal sinus neoplasm" OR "hepatoid yolk sac tumor" OR "yolk SAC tumor, malignant" OR "yolk Sac neoplasm" OR "yolk Sac tumor site unspecified" OR "yolk Sac tumour site unspecified"

Run this search on Europe PMC

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

"Yolk sac tumor" OR "Endodermal sinus tumor" OR "endodermal sinus neoplasm" OR "hepatoid yolk sac tumor" OR "yolk SAC tumor, malignant" OR "yolk Sac neoplasm" OR "yolk Sac tumor site unspecified" OR "yolk Sac tumour site unspecified"

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: 21 interventional · 4 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 (7652) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:43:32.932Z