RARE DISEASERESEARCH ATLAS

ORPHA:99912

Ovarian dysgerminoma

high confidenceDisorder

Also known as: Dysgerminoma of ovary · Dysgerminomatous germ cell cancer of the ovary

Publications

844

84.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,250

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare malignant germ cell tumor of ovary characterized by a solid, lobulated mass, usually with a diameter of more than 10 cm, generally occurring in children or young women who present with abdominal pain or an abdominal mass and elevated serum LDH. It is bilateral in about 20% of cases, although the contralateral tumor may not be evident on macroscopic examination. Histopathologically, tumor cells are uniform rounded primitive germ cells with clear cytoplasm and macronucleoli, arranged in nests or cords separated by thin fibrous septa containing lymphocytes. Immunohistochemistry should be positive for OCT4 or SALL4, KIT (CD117), and/or D2-40.

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 (3)

dysgerminomatous germ cell cancer of ovary · dysgerminomatous germ cell cancer of the ovary · malignant ovarian dysgerminoma

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

    844 matched papers (292 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

    1 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?

844

844 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.

844 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).

292 in the last 10 years · high confidence · 84.4th percentile (publications denominator)

Phrase hits: 844 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,250

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
    Yang J6 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Wang Y4 papers · 2026

    Department of Ultrasound, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, 350014, Fujian Province, China.

    Papers in Europe PMC
  3. 03
    Zhang X4 papers · 2025

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

    Papers in Europe PMC
  4. 04
    Chen D3 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  5. 05
    Li X3 papers · 2025

    Key Laboratory of Evidence Identification in Universities of Shandong Province, Shandong University of Political Science and Law, Jinan, SD.

    Papers in Europe PMC
  6. 06
    Li Y3 papers · 2024

    Department of Gynecologic Oncology, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Afshar Moghaddam N2 papers · 2026

    Department of Pathology, School of Medicine, Imam Hossein Medical Center Shahid Beheshti University of Medical Sciences Tehran Iran.

    Papers in Europe PMC
  8. 08
    Chen Y2 papers · 2025

    Department of Ultrasound, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, 350014, Fujian Province, China.

    Papers in Europe PMC
  9. 09
    Chinello M2 papers · 2025

    Pediatric Hematology-Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.

    Papers in Europe PMC
  10. 10
    Cojocaru E2 papers · 2026

    Department of Morphofunctional Sciences I, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iaşi, Romania.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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.

"Ovarian dysgerminoma" OR "Dysgerminoma of ovary" OR "Dysgerminoma of the ovary" OR "Dysgerminomatous germ cell cancer of the ovary" OR "Dysgerminomatous germ cell cancer of ovary" OR "malignant ovarian dysgerminoma"

Run this search on Europe PMC

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

"Ovarian dysgerminoma" OR "Dysgerminoma of ovary" OR "Dysgerminoma of the ovary" OR "Dysgerminomatous germ cell cancer of the ovary" OR "Dysgerminomatous germ cell cancer of ovary" OR "malignant ovarian dysgerminoma"

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: 1 interventional · 1 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 2026-07-27T06:31:54.106Z