RARE DISEASERESEARCH ATLAS

ORPHA:386

Hepatic cystic hamartoma

low confidenceDisorder

Also known as: Biliary hamartoma · MHL · Mesenchymal hamartoma of liver · VMC · Von Meyenburg complexes disease

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

782

Trials

0

Interventional, condition-specific

Researchers

1,153

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression).

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 (6)

biliary hamartoma · hepatic mesenchymal hamartoma · liver MH · liver mesenchymal hamartoma · mesenchymal hamartoma of liver · mesenchymal hamartoma of the liver

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    782 matched papers (340 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 trialPartial

    None under the specific name; 10 for broader category hamartoma

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?

782

782 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.

782 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).

340 in the last 10 years · low confidence

Phrase hits: 782 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,153

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wang Z4 papers · 2025

    Department of Pathology, Nanjing Drum Tower Hospital, The Affiliated Drum Tower Hospital of Medical School, Nanjing University, Nanjing, 210008, Jiangsu Province, China.

    Papers in Europe PMC
  2. 02
    Zhang H4 papers · 2025

    Department of Pathology and Laboratory Medicine, Loma Linda University Medical Center, Loma Linda, CA 92354, USA.

    Papers in Europe PMC
  3. 03
    Ahmed A3 papers · 2026

    College of Pharmacy, Al Zahraa University, Karbala, Iraq.

    Papers in Europe PMC
  4. 04
    Aldarawsha AN3 papers · 2026

    Radiology Department, Warith International Cancer Institute, Karbala, Iraq.

    Papers in Europe PMC
  5. 05
    Li J3 papers · 2025

    Department of Gastroenterology and Hepatology, The Third Central Hospital of Tianjin, Tianjin, China.

    Papers in Europe PMC
  6. 06
    Tanaka T3 papers · 2025

    Department of Surgery, Faculty of Medicine, Saga University, Saga, Japan.

    Papers in Europe PMC
  7. 07
    Wang Y3 papers · 2025

    Trauma Center, Department of Emergency and Traumatic Surgery, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030, P. R. China.

    Papers in Europe PMC
  8. 08
    Aishima S2 papers · 2023

    Department of Pathology, Saga University Hospital, Nabeshima 5-1-1, Saga, 849-8501, Japan.

    Papers in Europe PMC
  9. 09
    Al-Badri SG2 papers · 2025

    College of Medicine, University of Warith Al-Anbiyaa, Karbala, Iraq.

    Papers in Europe PMC
  10. 10
    Alshadood N2 papers · 2026

    Warith International Cancer Institute, Karbala, Iraq.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 10 trials are registered for hamartoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

10 interventional trials matched hamartoma, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hamartoma

10

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Hepatic cystic hamartoma" OR "Biliary hamartoma" OR "Mesenchymal hamartoma of liver" OR "Mesenchymal hamartoma of the liver" OR "Von Meyenburg complexes disease" OR "hepatic mesenchymal hamartoma" OR "liver MH" OR "liver mesenchymal hamartoma"

Run this search on Europe PMC

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

"Hepatic cystic hamartoma" OR "Biliary hamartoma" OR "Mesenchymal hamartoma of liver" OR "Mesenchymal hamartoma of the liver" OR "Von Meyenburg complexes disease" OR "hepatic mesenchymal hamartoma" OR "liver MH" OR "liver mesenchymal hamartoma" OR "mesenchymal hamartoma"

Recall-expansion terms: mesenchymal hamartoma

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

Parent-category trials query:

"hamartoma"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MHL; VMC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (782) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:39:37.332Z