Carcinoma of gallbladder and extrahepatic biliary tract
disease diseaseOn this page
Also known as carcinoma of gallbladder and EBT
Summary
Carcinoma of gallbladder and extrahepatic biliary tract (MONDO:0018918) is a cancer with 1 GWAS associations across 4 studies. A subtype of extrahepatic bile duct neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
- GWAS associations: 1
Clinical features
Epidemiology
Prevalence records
7 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 12 | Worldwide | Validated |
| Annual incidence | 1-9 / 100 000 | 4.37 | Europe | Validated |
| Annual incidence | 1-5 / 10 000 | 14 | Poland | Validated |
| Point prevalence | 1-5 / 10 000 | Europe | Not yet validated | |
| Annual incidence | 1-9 / 100 000 | 5.3 | Japan | Not yet validated |
| Annual incidence | 1-9 / 100 000 | 1.5 | United States | Not yet validated |
| Annual incidence | 1-9 / 100 000 | 1.27 | France | Not yet validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | carcinoma of gallbladder and extrahepatic biliary tract |
| Mondo ID | MONDO:0018918 |
| Orphanet | 56044 |
| UMLS | C5566557 |
| MedGen | 1797980 |
| GARD | 0018850 |
| MedDRA | 10007426 |
| Is cancer (heuristic) | yes |
Also known as: carcinoma of gallbladder and EBT
Data availability: 1 GWAS association (4 studies) · 97 cell lines.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › bile duct neoplasm › extrahepatic bile duct neoplasm › carcinoma of gallbladder and extrahepatic biliary tract
Related subtypes (6): extrahepatic bile duct lipoma, extrahepatic bile duct leiomyoma, extrahepatic bile duct adenoma, common bile duct neoplasm, gallbladder neuroendocrine tumor, grade 1/2, malignant tumor of extrahepatic bile duct
Subtypes (2): adenocarcinoma of gallbladder and extrahepatic biliary tract, squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Genetics & variants
GWAS landscape
1 GWAS associations across 4 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs181170503 | 1e-09 | PSG2, PSG11-AS1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90481490 | Verma A | 2024 | 471 | 450,748 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651316 | Liu TY | 2025 | 223 | 211,360 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435586 | Zhou W | 2018 | 196 | 393,372 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90041817 | Jiang L | 2021 | 195 | 456,153 | A generalized linear mixed model association tool for biobank-scale data. |
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 | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs181170503 | 19 | 43074284 | G>C | intron_variant | PSG2, PSG11-AS1 | 1e-09 | 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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.