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ORPHA:480501

Choledochal cyst

high confidenceDisorder

Also known as: Congenital cystic dilatation of the biliary tract

Publications

7,968

93.1th percentile

Trials

8

Interventional, condition-specific

Researchers

963

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelPresent

    2 genotype models (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

7 associated chemicals · 45 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 3-((3-trifluoromethyl)phenyl)-5-((3-carboxyphenyl)methylene)-2-thioxo-4-thiazolidinone · therapeutic
  • 4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid · therapeutic
  • 4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid · therapeutic
  • 5-nitro-2-(3-phenylpropylamino)benzoic acid · therapeutic
  • 3,4,5,3',4'-pentachlorobiphenyl · marker/mechanism
  • Sodium Chloride · marker/mechanism
  • Tetrachlorodibenzodioxin · marker/mechanism

Pathways: ABC transporters; cAMP signaling pathway; AMPK signaling pathway; Tight junction; Renin secretion; Proximal tubule bicarbonate reclamation; Salivary secretion; Gastric acid secretion

MyDisease.info · MONDO:0018805

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=3967) is 59.

7,968 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).

3,608 in the last 10 years · high confidence · 93.1th 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 11 September 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

high confidence · 91.5th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Choledochal cyst — 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.

"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