ORPHA:70567
Cholangiocarcinoma
Synonyms: Bile duct cancer · CCA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC) originating in the epithelium of the biliary tree, either intra or extra hepatic.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cholangiocarcinoma | Bile duct cancer · CCA |
| fr | Cholangiocarcinome | CCA · Cancer des voies biliaires |
| de | Cholangiokarzinom | CCA · Gallengangkarzinom |
| es | Colangiocarcinoma | CCA · Cáncer de conducto biliar · Cáncer de las vías biliares |
| it | Colangiocarcinoma | CCA · Cancro dei dotti biliari |
| nl | Cholangiocarcinoom | CCA · Galwegkanker |
| pt | Colangiocarcinoma | Cancro das vias biliares |
| pl | Rak dróg żółciowych | CCA · Rak dróg żółciowych |
| cs | Cholangiokarcinom | CCA · Karcinom žlučových cest |
| uk | Холангіокарцинома | Рак жовчних проток · CCA |
| zh | 胆管癌 | 胆管癌 |
| tr | Kolanjiyokarsinom | CCA · Safra kanalı kanseri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615619 | BTNT | validated | |
| ICD-10 | C22.1 | E | specific | validated |
| ICD-10 | C24.0 | BTNT | specific | validated |
| ICD-10 | C24.8 | BTNT | attributed | validated |
| ICD-10 | C24.9 | BTNT | attributed | validated |
| ICD-11 | 2C12.10 | BTNT | specific | validated |
| MONDO | 0019087 | E | validated | |
| MeSH | D018281 | E | validated | |
| UMLS | C0206698 | E | validated | |
| GARD | 9304 | E | validated | |
| MedDRA | 10008593 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:56044Carcinoma of gallbladder and extrahepatic biliary tract
rare hepatic diseases; rare neoplastic diseases - ORPHA:424936Carcinoma of liver and intrahepatic biliary tract
rare hepatic diseases; rare neoplastic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRCA1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:1100 | ENSG00000012048 | 113705 | 17q21.31 | BRCA1 DNA repair associated | 32576609[PMID] |
| BRCA2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 32576609[PMID] |
| PTPN3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:9655 | ENSG00000070159 | 176877 | 9q31.3 | protein tyrosine phosphatase non-receptor type 3 | 24503127[PMID] |
| ROS1 | Part of a fusion gene in | Assessed | HGNC:10261 | ENSG00000047936 | 165020 | 6q22.1 | ROS proto-oncogene 1, receptor tyrosine kinase | 21253578[PMID] |
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 4.2 / 100 000 | Worldwide | Value and class | Validated | [EXPERT]_emedicine 2011[OTHER] |
| Point prevalence | 1-9 / 100 000 | 2.1 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 15765398[PMID]_19245868[PMID]_24140396[PMID] |
| Annual incidence | >1 / 1000 | 113 / 100 000 | Thailand | Value and class | Validated | 18408464[PMID] |
| Annual incidence | 1-9 / 100 000 | 5.5 / 100 000 | Japan | Value and class | Not yet validated | emedicine 2011[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Australia | Value and class | Validated | 15192785[PMID] |
| Annual incidence | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Not yet validated | emedicine 2011[OTHER]_22895392[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | European Medicines Agency 2004[OTHER]_22173164[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011985 | Acholic stools | |
| HP:0100574 | Biliary tract neoplasm | |
| HP:0000952 | Jaundice | |
| Frequent (79-30%) | ||
| HP:0012378 | Fatigue | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002039 | Anorexia | |
| HP:0001945 | Fever | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/70567
- This record as JSON: /data/d/70567.json