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ORPHA:251877

Ganglioneuroblastoma

low confidenceDisorder

Publications

3,165

Trials

19

Interventional, condition-specific

Researchers

1,205

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and Horner syndrome, depending on the location of the tumor.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

ganglioneuroblastoma · ganglioneuroblastoma (disease) · ganglioneuroblastoma (morphologic abnormality) · ganglioneuroblastoma, malignant

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

    3,165 matched papers (1,558 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

    19 matched on ClinicalTrials.gov (9 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?

3,165

3,165 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.

3,165 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).

1,558 in the last 10 years · low confidence

Phrase hits: 3,165 · MeSH hits: 89

Open Europe PMC search

Who's working on it?

1,205

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 J10 papers · 2026

    Department of Nuclear Medicine, Beijing Friendship Hospital, Capital Medical University, 95 Yong An Road, Xicheng District, Beijing, 100050, China. yangjigang@ccmu.edu.cn.

    Papers in Europe PMC
  2. 02
    Wang H9 papers · 2026

    Department of Radiology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, No. 136 Zhongshan Road 2, Yuzhong District, Chongqing, 400014, China.

    Papers in Europe PMC
  3. 03
    Wang J9 papers · 2026

    Department of General Surgery, Shenzhen Children's Hospital, Shenzhen, China.

    Papers in Europe PMC
  4. 04
    Wang W8 papers · 2026

    Nuclear Medicine Department, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wang X8 papers · 2026

    Department of Nuclear Medicine, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Liu J7 papers · 2025

    Department of Pediatric Surgery, Yijishan Hospital of Wannan Medical College, Wuhu 241000, Anhui Province, China.

    Papers in Europe PMC
  7. 07
    Liu Y7 papers · 2026

    Department of Pediatric Oncology, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, and.

    Papers in Europe PMC
  8. 08
    Xu Y7 papers · 2026

    Department of Nuclear Medicine, Beijing Friendship Hospital, Capital Medical University, 95 Yong An Road, Xicheng District, Beijing, 100050, China.

    Papers in Europe PMC
  9. 09
    Zhou Z7 papers · 2026

    Department of Nuclear Medicine, Beijing Friendship Hospital, Capital Medical University, 95 Yong An Road, Xicheng District, Beijing, 100050, China.

    Papers in Europe PMC
  10. 10
    Wang Y6 papers · 2026

    Department of Thoracic Surgery, Shenzhen Children's Hospital, Shenzhen, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

19

interventional trials for this specific condition

19 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

19 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.2th percentile).

low confidence · 94.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

"Ganglioneuroblastoma" OR "ganglioneuroblastoma (disease)" OR "ganglioneuroblastoma (morphologic abnormality)" OR "ganglioneuroblastoma, malignant"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ganglioneuroblastoma

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

"Ganglioneuroblastoma" OR "ganglioneuroblastoma (disease)" OR "ganglioneuroblastoma (morphologic abnormality)" OR "ganglioneuroblastoma, malignant"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 19 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (3165) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:53:23.279Z