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ORPHA:100085

Primary hepatic neuroendocrine carcinoma

medium confidenceDisorder

Publications

758

82.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,149

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.

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 (8)

HNEC · PHNEC · hepatic neuroendocrine carcinoma · liver neuroendocrine cancer · liver neuroendocrine carcinoma · neuroendocrine carcinoma of liver · primary hepatic neuroendocrine carcinoma · primary liver neuroendocrine carcinoma

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

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

    758 matched papers (460 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Neuroendocrine neoplasm; Abdominal distention; Chronic fatigue) Source

  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 trialPartial

    None under the specific name; 170 for broader category neuroendocrine carcinoma

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)

38

Associated phenotypes · MONDO:0015072

  • Neuroendocrine neoplasm
  • Abdominal distention
  • Chronic fatigue
  • Hepatic cysts
  • Right ventricular failure

Showing 5 of 38 — open Monarch for the full list.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

758

758 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=3967) is 59.

758 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).

460 in the last 10 years · medium confidence · 82.4th percentile (publications denominator)

Phrase hits: 758 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,149

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 H6 papers · 2026

    Department of Surgery, Dongguan Nancheng Hospital, Dongguan, China.

    Papers in Europe PMC
  2. 02
    Liu J5 papers · 2026

    Shandong Province Health Precision Medicine Industry Technology Research Institute, Jinan, Shandong, China.

    Papers in Europe PMC
  3. 03
    Wu Y5 papers · 2025

    Key Laboratory of Medical Molecular Virology (MOE/NHC/CAMS), Department of Medical Microbiology and Parasitology, School of Basic Medical Sciences, Shanghai Medical College of Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Zhang W5 papers · 2024

    Department of Otolaryngology-Head and Neck Surgery, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China; Otolaryngological Institute, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Sleep Disordered Breathing, Shanghai, China. Electronic address: drzhangwt@163.com.

    Papers in Europe PMC
  5. 05
    Zhang X5 papers · 2026

    Department of Radiology, The General Hospital of Western Theater Command, Chengdu, Sichuan 610083, China.

    Papers in Europe PMC
  6. 06
    Chen Y4 papers · 2024

    Department of Hepatobiliary Surgery of General Hospital of PLA, Beijing, 100853, China; Email: chenyongl301@163.com.

    Papers in Europe PMC
  7. 07
    Li J4 papers · 2025

    Department of Ultrasound, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  8. 08
    Li X4 papers · 2026

    Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Zhang L4 papers · 2026

    Department of Ultrasound Diagnosis, Gansu Provincial Maternity and Child-care Hospital Lanzhou, Gansu, China.

    Papers in Europe PMC
  10. 10
    Zhang T4 papers · 2025

    Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China. tpingzhang@yahoo.com.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 170 trials are registered for neuroendocrine carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

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

Broader category: neuroendocrine carcinoma

170

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

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.

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-30

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 (4)

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 Primary hepatic neuroendocrine carcinoma — 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.

"Primary hepatic neuroendocrine carcinoma" OR "PHNEC" OR "hepatic neuroendocrine carcinoma" OR "liver neuroendocrine cancer" OR "liver neuroendocrine carcinoma" OR "neuroendocrine carcinoma of liver" OR "neuroendocrine carcinoma of the liver" OR "primary liver neuroendocrine carcinoma"

Run this search on Europe PMC

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

"Primary hepatic neuroendocrine carcinoma" OR "PHNEC" OR "hepatic neuroendocrine carcinoma" OR "liver neuroendocrine cancer" OR "liver neuroendocrine carcinoma" OR "neuroendocrine carcinoma of liver" OR "neuroendocrine carcinoma of the liver" OR "primary liver neuroendocrine carcinoma"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"neuroendocrine carcinoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HNEC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:06:06.585Z