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ORPHA:449

Hepatoblastoma

low confidenceDisorder

Publications

15,123

Trials

51

Interventional, condition-specific

Researchers

1,365

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A malignant hepatic tumor, typically affecting the pediatric population, arising mostly in an otherwise healthy liver. The most common signs are abdominal distension and abdominal mass. Sometimes patients present with anorexia, weight loss, fatigue. Most HBLs are sporadic, but some cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy, and familial adenomatous polyposis (FAP).

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 (7)

HBL · hepatoblastoma · hepatoblastoma, malignant · paediatric embryonal hepatoma · paediatric hepatoblastoma · pediatric embryonal hepatoma · pediatric hepatoblastoma

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.”

3/6 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

    15,123 matched papers (8,514 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 designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Doxorubicin Source

  6. Interventional trialPresent

    51 matched on ClinicalTrials.gov (11 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA DoxorubicinTreatment of hepatoblastoma · 28/07/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

34

Drugs / clinical candidates · MONDO_0018666

CTD chemicals (MyDisease.info)

11 associated chemicals · 158 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cisplatin · therapeutic
  • Fluorouracil · therapeutic
  • gambogic acid · therapeutic
  • IAP protocol · therapeutic
  • JET protocol · therapeutic
  • Verapamil · therapeutic
  • Diethylnitrosamine · marker/mechanism
  • Methylphenidate · marker/mechanism
  • Oxazepam · marker/mechanism
  • Phenobarbital · marker/mechanism
  • Phenytoin · marker/mechanism

Pathways: EGFR tyrosine kinase inhibitor resistance; DNA replication; Base excision repair; Nucleotide excision repair; Mismatch repair; ErbB signaling pathway; Rap1 signaling pathway; Cell cycle

MyDisease.info · MONDO:0018666

Literature

Is anyone studying this?

15,123

15,123 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.

15,123 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).

8,514 in the last 10 years · low confidence

Phrase hits: 15,123 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,365

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
    Branchereau S8 papers · 2026

    Paediatric Surgery Unit, Université Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  2. 02
    Hiyama E7 papers · 2026

    Natural Science Center for Basic Research and Development, Hiroshima University, Hiroshima, Japan.

    Papers in Europe PMC
  3. 03
    Liu J7 papers · 2026

    Hepatobiliary and Gastrointestinal Department of PLA Rocket Force Characteristic Medical Center, Beijing 100086, China.

    Papers in Europe PMC
  4. 04
    Ranganathan S7 papers · 2026

    Division of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

    Papers in Europe PMC
  5. 05
    Hirsch TZ6 papers · 2026

    Centre de Recherche des Cordeliers, Paris, France; Institut du Cancer Paris CARPEM, AP-HP, Department of Oncology, Hopital Européen Georges Pompidou, F-75015, Paris, France.

    Papers in Europe PMC
  6. 06
    Liu Y6 papers · 2026

    Wuya College of Innovation, Key Laboratory of Structure-Based Drug Design & Discovery, Ministry of Education, Shenyang Pharmaceutical University, Shenyang 110016, China. Electronic address: spu_liuy@163.com.

    Papers in Europe PMC
  7. 07
    O'Neill AF6 papers · 2026

    Department of Pediatric Oncology, Dana-Farber Cancer Institute/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Wang H6 papers · 2026

    Department of Surgical Oncology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  9. 09
    Zhang Y6 papers · 2026

    Beijing National Laboratory for Molecular Sciences and MOE Key Laboratory of Bioorganic Chemistry and Molecular Engineering, College of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.

    Papers in Europe PMC
  10. 10
    Alaggio R5 papers · 2026

    Pathology Unit, Department of Laboratories, Bambino Gesu Children's Hospital IRCCS, Rome, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

51

interventional trials for this specific condition

51 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 11 September 2026

51 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.2th percentile).

low confidence · 97.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

13 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 68 · after dedupe 68 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 68 · 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).

Uncertain / not reviewed (68)

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 Hepatoblastoma — 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.

"Hepatoblastoma" OR "hepatoblastoma, malignant" OR "paediatric embryonal hepatoma" OR "paediatric hepatoblastoma" OR "pediatric embryonal hepatoma" OR "pediatric hepatoblastoma"

Run this search on Europe PMC

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

"Hepatoblastoma" OR "hepatoblastoma, malignant" OR "paediatric embryonal hepatoma" OR "paediatric hepatoblastoma" OR "pediatric embryonal hepatoma" OR "pediatric hepatoblastoma"

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: 51 interventional · 13 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HBL

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (15123) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:52:30.227Z