Bile duct disorder
diseaseOn this page
Also known as bile duct diseasebile duct disease or disorderdisease of bile ductdisease or disorder of bile ductdisorder of bile duct
Summary
Bile duct disorder (MONDO:0002887) is a disease (an umbrella term covering 7 Mondo subtypes) with 5 GWAS associations across 4 studies and 38 clinical trials. Top therapeutic interventions include pinaverium, ursodiol, and ascorbic acid. A subtype of biliary tract disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- GWAS associations: 5
- Clinical trials: 38
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | bile duct disorder |
| Mondo ID | MONDO:0002887 |
| MeSH | D001649 |
| DOID | DOID:4138 |
| NCIT | C96716 |
| SNOMED CT | 118926004 |
| UMLS | C0005395 |
| MedGen | 2240 |
| Anatomy (UBERON) | UBERON:0002394 |
| Is cancer (heuristic) | no |
Also known as: bile duct disease · bile duct disease or disorder · bile duct disorder · disease of bile duct · disease or disorder of bile duct · disorder of bile duct
Data availability: 5 GWAS associations (4 studies).
Disease family
This is a subtype of biliary tract disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder
Related subtypes (14): biliary tract neoplasm, gallstones, primary biliary cholangitis, bile reflux, postcholecystectomy syndrome, Alagille syndrome, isolated agenesis of gallbladder, cholelithiasis, ketamine-induced biliary dilatation, follicular cholangitis and pancreatitis, idiopathic ductopenia, Caroli syndrome, isolated congenital hepatic fibrosis, Rokitansky-Aschoff sinuses of the gallbladder
Subtypes (7): perforation of bile duct, cholestasis, common bile duct disorder, non-neoplastic bile duct disorder, bile duct cyst, bile duct neoplasm, fibrosis of bile duct
Genetics & variants
GWAS landscape
5 GWAS associations across 4 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs776766581 | 4e-12 | MAML3 | C | 3.85 |
| rs371510808 | 5e-12 | ADCY9 | A | 3.69 |
| rs578092697 | 2e-11 | PRKAG2 | C | 1.93 |
| rs575896748 | 2e-11 | PKMYT1 - GREP1 | T | 3.27 |
| rs536427663 | 4e-11 | ZSWIM5P3 - LINC02466 | T | 3.58 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478476 | Verma A | 2024 | 1,206 | 448,768 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436389 | Zhou W | 2018 | 777 | 391,307 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90480353 | Verma A | 2024 | 305 | 121,355 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482186 | Verma A | 2024 | 305 | 121,355 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 5 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 5 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 4 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs776766581 | 4 | 139743181 | C>G,T | 0 | intron_variant | MAML3 | 4e-12 | Tier 4: intronic/intergenic |
| rs371510808 | 16 | 3978561 | A>C | 0 | intron_variant | ADCY9 | 5e-12 | Tier 4: intronic/intergenic |
| rs578092697 | 7 | 151619403 | C>T | 0.001 | intron_variant | PRKAG2 | 2e-11 | Tier 4: intronic/intergenic |
| rs575896748 | 16 | 2982040 | T>C,G | 0 | intron_variant | PKMYT1 - GREP1 | 2e-11 | Tier 4: intronic/intergenic |
| rs536427663 | 4 | 129611431 | T>C | 0 | intergenic_variant | ZSWIM5P3 - LINC02466 | 4e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Drotaverine | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Diclofenac.
Clinical trials & evidence
Clinical trials
Clinical trials: 38.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 33 |
| PHASE3 | 3 |
| PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00731198 | PHASE3 | COMPLETED | Drotaverine Hydrochloride Versus Hyoscine-N-butylbromide for Duodenal Antimotility During Endoscopic Retrograde Cholangiopancreatography (ERCP) |
| NCT00945516 | PHASE3 | COMPLETED | Newly Designed Fully Covered Metal Stent for the Benign Biliary Stricture |
| NCT01745978 | PHASE3 | UNKNOWN | Compare the Knob-tipped Knife With the Needle Knife in Difficult Biliary Cannulation |
| NCT00040131 | PHASE2 | TERMINATED | Safety and Efficacy Study of IL-10 (Tenovil TM) in the Prevention of Post-ERCP Acute Pancreatitis (Study P02580)(TERMINATED) |
| NCT03678480 | PHASE2 | WITHDRAWN | A Study of HTD1801 in Adolescents With Primary Sclerosing Cholangitis (PSC) |
| NCT04556019 | Not specified | RECRUITING | Results of Surgical Treatment of the Hepatobiliopancreatic Surgical Unit |
| NCT05014347 | Not specified | ACTIVE_NOT_RECRUITING | Patient Reported Experience in Endoscopic Ultrasound |
| NCT05689255 | Not specified | RECRUITING | Gut Microbiome and Metabolome in Patients With Gallstone Disease After Surgical and Endoscopic Interventions |
| NCT06010576 | Not specified | RECRUITING | Endoscopic Ultrasound-guided Rendezvous Versus Precut Papillotomy |
| NCT06340620 | Not specified | RECRUITING | EUS Examination Using EndoSound Vision System vs. Standard Echoendoscope |
| NCT07263061 | Not specified | RECRUITING | Time to Post-operative Recovery of Serum Albumin as a Predictor of Outcome in Major Hepato Pancreato Biliary Surgeries |
| NCT07511907 | Not specified | NOT_YET_RECRUITING | Routine Intraoperative White Test for Bile Leak Detection in Liver Resection |
| NCT00270868 | Not specified | UNKNOWN | Efficacy of Double Wire Technique in Difficult Cases of Common Bile Duct Cannulation in ERCP (UDOGUIA-04) |
| NCT00930410 | Not specified | COMPLETED | Intra-ductal Confocal Endomicroscopy for Characterization of Pancreas and Bile Duct Tumor |
| NCT01438385 | Not specified | UNKNOWN | Interventional Endoscopy Database for Pancreatico-biliary, Gastrointestinal and Esophageal Disorders |
| NCT01493076 | Not specified | COMPLETED | Safety and Efficacy of a Newly Developed Baby-sphincterotome for Bile Duct Cannulation |
| NCT02189421 | Not specified | UNKNOWN | Multibending vs Conventional Endoscope for Direct Peroral Cholangioscopy |
| NCT02611453 | Not specified | UNKNOWN | Cholangiography Using Carbon Dioxide Versus Iodinated Contrast in ERCP |
| NCT02882451 | Not specified | UNKNOWN | Impact of Pinaverium Bromide on Bile Duct and Pancreatic Duct Cannulation During Endoscopic Retrograde Cholangiopancreatography |
| NCT02917408 | Not specified | COMPLETED | Retrospective Study About Primary Biliary Cholangitis During January 2001 to July 2016 at West China Hospital |
| NCT03775681 | Not specified | COMPLETED | Feasibility of Laryngeal Mask Airway Gastro on Patients Undergoing Endoscopic Retrograde Cholangiopancreatography for Pancreas and Bile Duct Disorders |
| NCT03951324 | Not specified | UNKNOWN | Volumetric Laser Endomicroscopy’s (VLE) Diagnostic Accuracy Validation Study: Impact on Clinical Management Study |
| NCT04040504 | Not specified | COMPLETED | Infection Control in ERCP Using a Duodenoscope With a Disposable Cap |
| NCT04145843 | Not specified | COMPLETED | Treatment Outcomes in Bile Duct Stones |
| NCT04341909 | Not specified | COMPLETED | Trainee Involvement in ERCP Risk Score |
| NCT04580940 | Not specified | COMPLETED | SpyGlass™ Discover Percutaneous |
| NCT04929821 | Not specified | UNKNOWN | UNITY-B A Prospective, Multicentric, Single-arm Study to Evaluate the Safety and Efficacy of the UNITY-B Biodegradable Balloon-Expandable Biliary Stent System in Subjects With Biliary Strictures |
| NCT05051358 | Not specified | UNKNOWN | Therapeutic Endoscopic Ultrasound for Gastrointestinal Disorders: A Multicenter Registry Study |
| NCT05263752 | Not specified | COMPLETED | Evaluation of Safety and Efficacy of NvisionVLE® Imaging Low Profile System in Patients With Bile Duct Disease |
| NCT05457101 | Not specified | UNKNOWN | Validation of an AI-based Biliopancreatic EUS Navigation System for Real-time Quality Improvement: A Prospective, Single-center, Randomized Controlled Trial |
| NCT05475964 | Not specified | UNKNOWN | The Role of Endoscopic Ultrasound in Evaluation of Patients With Indefinite Cause of Bile Duct Dilatation |
| NCT05600270 | Not specified | COMPLETED | Angled-tip vs. Straight-tip Guidewire in Biliary Cannulation |
| NCT05822635 | Not specified | COMPLETED | SpyGlass Surgical Study |
| NCT06106750 | Not specified | UNKNOWN | Endoscopic Scissors Cutting Nasobiliary Duct VS Bilateral Plastic Stent |
| NCT06115655 | Not specified | UNKNOWN | A Single-center, Prospective Cohort Study on the Differentiation of Benign and Malignant Bile Duct Stenosis Based on Bile and Peripheral Blood cfDNA Methylation Profiles |
| NCT06170632 | Not specified | UNKNOWN | Flare Type Self-expandable Metal Stents (SEMS) vs Plastic Stent for the Treatment of Difficult Common Bile Duct Stone |
| NCT06364865 | Not specified | COMPLETED | AE05ML Device for ML Hem-o-lok Polymer Clip Delivery in Laparoscopic Surgical Procedures Observational Registery Study |
| NCT07417020 | Not specified | COMPLETED | Role of Prophylactic Aggressive Hydration to Prevent Post-ERCP Pancreatitis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PINAVERIUM | 4 | 3 |
| URSODIOL | 4 | 2 |
| ASCORBIC ACID | 4 | 1 |
| BERBERINE URSODEOXYCHOLATE | 2 | 1 |
| INTERLEUKIN-10 | 2 | 1 |
| CHEMBL5483040 | 0 | 1 |
| CHEMBL5409583 | 0 | 1 |
| CHEMBL4303383 | 0 | 1 |
Related Atlas pages
- Drugs: Pinaverium, Ursodiol, Ascorbic Acid, CHEMBL5483040