RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:99978

Perihilar cholangiocarcinoma

high confidenceDisorder

Also known as: Hilar CCA · Hilar cholangiocarcinoma · Klatskin tumor

Publications

7,028

97.4th percentile

Trials

58

Interventional, condition-specific

Researchers

1,428

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Klatskin's tumor · cholangiocarcinoma of hilar portion of hepatic duct · hilar CC · hilar CCA · hilar cholangiocarcinoma · hilar portion of hepatic duct cholangiocarcinoma

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

    7,028 matched papers (4,616 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

    58 matched on ClinicalTrials.gov (15 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?

7,028

7,028 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=5449) is 41.

7,028 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).

4,616 in the last 10 years · high confidence · 97.4th percentile (publications denominator)

Phrase hits: 7,028 · MeSH hits: 106

Open Europe PMC search

Who's working on it?

1,428

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
    Groot Koerkamp B12 papers · 2026

    Department of Surgery, Erasmus University Medical Centre, Rotterdam, Netherlands.

    Papers in Europe PMC
  2. 02
    Ruzzenente A10 papers · 2026

    University of Verona Medical School, Department of Surgery, Division of General Surgery, Unit of Hepato-Pancreato-Biliary Surgery, Verona, Italy.

    Papers in Europe PMC
  3. 03
    Erdmann JI8 papers · 2026

    Amsterdam UMC, Location University of Amsterdam, Department of Surgery, Amsterdam, the Netherlands; Cancer Center Amsterdam, Amsterdam, the Netherlands. Electronic address: j.i.erdmann@amsterdamUMC.nl.

    Papers in Europe PMC
  4. 04
    Maithel SK8 papers · 2026

    Department of Surgery, Emory University, Atlanta, GA, USA.

    Papers in Europe PMC
  5. 05
    Aucejo F5 papers · 2026

    Department of General Surgery, Cleveland Clinic Foundation, OH, USA.

    Papers in Europe PMC
  6. 06
    Endo I5 papers · 2026

    Department of Gastroenterological Surgery, Yokohama City University School of Medicine, Yokohama, Japan.

    Papers in Europe PMC
  7. 07
    Hagendoorn J5 papers · 2026

    University Medical Centre/Utrecht University, Department of Surgical Oncology, Utrecht, the Netherlands.

    Papers in Europe PMC
  8. 08
    Hoogwater FJH5 papers · 2026

    University Medical Center Groningen, Department of Surgery, Groningen, the Netherlands.

    Papers in Europe PMC
  9. 09
    Kawakatsu S5 papers · 2026

    Division of Surgical Oncology, Department of Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  10. 10
    Marques HP5 papers · 2026

    Department of Surgery, Curry Cabral Hospital, Lisbon, Portugal.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

58

interventional trials for this specific condition

58 interventional trials matched this specific condition name; 15 currently recruiting in our sample. 587 trials are registered for cholangiocarcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

58 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.3th percentile).

high confidence · 97.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: cholangiocarcinoma

587

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

23 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.

"Perihilar cholangiocarcinoma" OR "Hilar CCA" OR "Hilar cholangiocarcinoma" OR "Klatskin tumor" OR "Klatskin's tumor" OR "cholangiocarcinoma of hilar portion of hepatic duct" OR "cholangiocarcinoma of the hilar portion of the hepatic duct" OR "hilar CC" OR "hilar portion of hepatic duct cholangiocarcinoma" OR "hilar portion of the hepatic duct cholangiocarcinoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Klatskin Tumor

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

"Perihilar cholangiocarcinoma" OR "Hilar CCA" OR "Hilar cholangiocarcinoma" OR "Klatskin tumor" OR "Klatskin's tumor" OR "cholangiocarcinoma of hilar portion of hepatic duct" OR "cholangiocarcinoma of the hilar portion of the hepatic duct" OR "hilar CC" OR "hilar portion of hepatic duct cholangiocarcinoma" OR "hilar portion of the hepatic duct cholangiocarcinoma"

Interventional trials matched via: both, 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: 58 interventional · 23 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"cholangiocarcinoma"

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

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 2026-07-27T06:50:45.692Z