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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 found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

7

Drugs / clinical candidates · MONDO_0005744

CTD chemicals (MyDisease.info)

1 associated chemical · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • PVB protocol · therapeutic

Pathways: Cytokine-cytokine receptor interaction; Cytokine Signaling in Immune system; Immune System; TNFR2 non-canonical NF-kB pathway; TNFs bind their physiological receptors

MyDisease.info · MONDO:0005744

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=3967) is 59.

7,652 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).

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 11 September 2026

21 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95th percentile).

low confidence · 95th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Yolk sac 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.

"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