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ORPHA:53035

Caroli disease

low confidenceDisorder

Publications

1,172

Trials

2

Interventional, condition-specific

Researchers

1,100

Distinct authors in sample

Gene link

PKD1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Caroli disease (CD) is a rare liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

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.

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 identifiedPresent

    Strong — PKD1

  2. LiteraturePresent

    1,172 matched papers (584 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

    2 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (PKD1).

GenCC classification: Strong.

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?

1,172

1,172 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.

1,172 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).

584 in the last 10 years · low confidence

Phrase hits: 1,172 · MeSH hits: 31

Open Europe PMC search

Who's working on it?

1,100

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
    Yi S4 papers · 2024

    Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

    Papers in Europe PMC
  2. 02
    Huang Y3 papers · 2026

    Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  3. 03
    Li J3 papers · 2024

    Department of Visceral Transplant Surgery, University Medical Center Hamburg Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Li S3 papers · 2024

    Department of Radiology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

    Papers in Europe PMC
  5. 05
    Luo J3 papers · 2024

    Liver Disease Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.

    Papers in Europe PMC
  6. 06
    Morisada N3 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan. morisada@med.kobe-u.ac.jp.

    Papers in Europe PMC
  7. 07
    Nozu K3 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

    Papers in Europe PMC
  8. 08
    Ala A2 papers · 2025

    Institute of Liver Studies, Kings College Hospital NHS Foundation Trust, London, UK, Faculty of Health and Medical Sciences (FHMS), University of Surrey and professional director of research, development and Innovation Royal Surrey NHS Foundation Trust, Guildford, UK aftab.ala1@nhs.net.

    Papers in Europe PMC
  9. 09
    Alonso Á2 papers · 2026

    Servicio de Nefrología Infantil, Hospital Universitario La Paz, 28046 Madrid, Spain; (Á.A.); (L.E.-R.); (M.M.)

    Papers in Europe PMC
  10. 10
    Bai Q2 papers · 2025

    The Third People's Hospital of Yunnan Province, 292 Beijing Road, Kunming City, Yunnan Province, China. wwwzhuanyong77@163.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

None of the matched observational studies is currently listed as 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.

"Caroli disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Caroli Disease

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

"Caroli disease" OR "PKD1"

Recall-expansion terms: PKD1

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

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

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

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 (1172) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T00:50:52.056Z