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ORPHA:480501

Choledochal cyst

high confidenceDisorder

Also known as: Congenital cystic dilatation of the biliary tract

Publications

7,968

96.7th percentile

Trials

8

Interventional, condition-specific

Researchers

963

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare biliary tract disease characterized by fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, , rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased.

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 (5)

bile duct cysts · choledochal cyst · choledochal cysts · choledochocele · congenital cystic dilatation of the biliary tract

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

    7,968 matched papers (3,608 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

    8 matched on ClinicalTrials.gov (3 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?

7,968

7,968 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.

7,968 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).

3,608 in the last 10 years · high confidence · 96.7th percentile (publications denominator)

Phrase hits: 7,968 · MeSH hits: 168

Open Europe PMC search

Who's working on it?

963

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
    Li L13 papers · 2026

    Department of General Surgery, Capital Institute of Pediatrics, Beijing, China. lilong23@126.com.

    Papers in Europe PMC
  2. 02
    Diao M11 papers · 2026

    Department of General Surgery, Capital Institute of Pediatrics, Beijing, China. psps3001@hotmail.com.

    Papers in Europe PMC
  3. 03
    Wang X9 papers · 2026

    Department of General Surgery, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China. Electronic address: wangxin@zgwhfe.com.

    Papers in Europe PMC
  4. 04
    Wang J8 papers · 2026

    Department of Hepatobiliary Surgery, the Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, China.

    Papers in Europe PMC
  5. 05
    Zhang Y8 papers · 2026

    Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan, Shandong, China.

    Papers in Europe PMC
  6. 06
    Chen S7 papers · 2026

    Department of General Surgery, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, 3333binshen Street, binjiang District, Hangzhou, Zhejiang province, China.

    Papers in Europe PMC
  7. 07
    Ming A6 papers · 2026

    Department of Pediatric Surgery, Capital Institute of Pediatrics; Research Unit of Minimally Invasive Pediatric Surgery On Diagnosis and Treatment, Chinese Academy of Medical Sciences (2021RU015), Beijing, 100020, China.

    Papers in Europe PMC
  8. 08
    Shao Y5 papers · 2026

    Department of Pediatric Surgery, Capital Institute of Pediatrics; Research Unit of Minimally Invasive Pediatric Surgery On Diagnosis and Treatment, Chinese Academy of Medical Sciences (2021RU015), Beijing, 100020, China.

    Papers in Europe PMC
  9. 09
    Chen Q4 papers · 2026

    Department of General Surgery, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, 3333binshen Street, binjiang District, Hangzhou, Zhejiang province, China.

    Papers in Europe PMC
  10. 10
    Gao Z4 papers · 2026

    Department of General Surgery, National Clinical Research Center for Child Health, Children's Hospital, Zhejiang University School of Medicine, 3333binshen Street, binjiang District, Hangzhou, Zhejiang province, China. ebwk@zju.edu.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

high confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

10 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.

"Choledochal cyst" OR "Congenital cystic dilatation of the biliary tract" OR "Congenital cystic dilatation of biliary tract" OR "bile duct cysts" OR "choledochal cysts" OR "choledochocele"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Choledochal Cyst

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

"Choledochal cyst" OR "Congenital cystic dilatation of the biliary tract" OR "Congenital cystic dilatation of biliary tract" OR "bile duct cysts" OR "choledochal cysts" OR "choledochocele"

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

Study-type breakdown: 8 interventional · 10 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 2026-07-27T17:12:42.180Z