MCID: CHL127
MIFTS: 47

Cholangiocarcinoma, Susceptibility to

Categories: Genetic diseases, Liver diseases, Rare diseases, Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Cholangiocarcinoma, Susceptibility to

MalaCards integrated aliases for Cholangiocarcinoma, Susceptibility to:

Name: Cholangiocarcinoma, Susceptibility to 54 29 38
Cholangiocarcinoma 38 12 24 25 56 52 14 69
Adult Primary Cholangiocellular Carcinoma 12 69
Intrahepatic Cholangiocarcinoma 25 69
Extrahepatic Cholangiocarcinoma 25 69
Cholangiocarcinoma of Biliary Tract 25
Adult Primary Cholangiocarcinoma 12
Cholangiocellular Carcinoma 25
Bile Duct Carcinoma 69
Cholangiosarcoma 12
Bile Duct Cancer 56
Cca, Icca, Icc 24
Cca 56
Cc 25

Characteristics:

Orphanet epidemiological data:

56
cholangiocarcinoma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare hepatic diseases


External Ids:

OMIM 54 615619
Disease Ontology 12 DOID:4947
ICD10 33 C22.1
MeSH 42 D018281
NCIt 47 C4436 C8265
SNOMED-CT 64 312104005 70179006
Orphanet 56 ORPHA70567
MESH via Orphanet 43 D018281 D001650
UMLS via Orphanet 70 C0206698 C0740277
ICD10 via Orphanet 34 C22.1 C24.0 C24.8 more

Summaries for Cholangiocarcinoma, Susceptibility to

OMIM : 54
Carcinomas of the biliary tract are aggressive malignancies, with 5-year survival of less than 10%. These carcinomas arise throughout the biliary tree and are anatomically classified as either intrahepatic or extrahepatic cholangiocarcinomas. Gallbladder carcinomas also arise from the biliary tree but have distinct natural histories compared to cholangiocarcinomas, suggesting different underlying tumor biology. Cholangiocarcinoma incidence varies widely between geographic regions, reflecting the impact of different underlying etiologies. In endemic areas, liver fluke infections by O. viverrini and Clonorchis sinensis, both group I carcinogens, represent the major risk factor for cholangiocarcinomas. In nonendemic regions, other risk factors, including choledochal cysts (603003), hepatolithiasis, and primary sclerosing cholangitis (613806), are likely contributors (summary by Chan-on et al., 2013). Overall, the majority of patients lack such identifiable risk factors (summary by Jiao et al., 2013). (615619)

MalaCards based summary : Cholangiocarcinoma, Susceptibility to, also known as cholangiocarcinoma, is related to intrahepatic cholangiocarcinoma and klatskin's tumor, and has symptoms including jaundice, fatigue and fever. An important gene associated with Cholangiocarcinoma, Susceptibility to is PTPN3 (Protein Tyrosine Phosphatase, Non-Receptor Type 3), and among its related pathways/superpathways are Pathways in cancer and CLEC7A (Dectin-1) signaling. Affiliated tissues include liver and small intestine, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Genetics Home Reference : 25 Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile ducts are branched tubes that connect the liver and gallbladder to the small intestine. They carry bile, which is a fluid that helps the body digest the fats in food. Bile is produced in the liver and stored in the gallbladder before being released in the small intestine after a person eats.

Disease Ontology : 12 A bile duct adenocarcinoma that has material basis in bile duct epithelial cells.

Related Diseases for Cholangiocarcinoma, Susceptibility to

Diseases related to Cholangiocarcinoma, Susceptibility to via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 344)
id Related Disease Score Top Affiliating Genes
1 intrahepatic cholangiocarcinoma 34.2 CDX2 KRT20 KRT7
2 klatskin's tumor 32.3 ERBB2 KRT7 KRT8 MUC1 MUC4
3 situs inversus 30.4 MUC1 MUC2
4 liver disease 29.7 KRT19 MUC1 MUC4 MUC5AC
5 hepatocellular carcinoma 28.9 AFP CDH1 GPC3 KRT19 KRT7 KRT8
6 gallbladder cancer 28.1 AFP CDH1 CDX2 ERBB2 GPC3 KRT19
7 colorectal cancer 25.0 CDH1 CDX2 ERBB2 KRT19 KRT20 KRT7
8 hilar cholangiocellular carcinoma 12.1
9 sarcomatous intrahepatic cholangiocarcinoma 11.9
10 mucinous intrahepatic cholangiocarcinoma 11.8
11 signet ring cell intrahepatic cholangiocarcinoma 11.7
12 contractural arachnodactyly, congenital 11.7
13 clonorchiasis 11.3
14 epilepsy occipital calcifications 11.2
15 opisthorchiasis 11.2
16 bile duct carcinoma 11.1
17 acrocallosal syndrome 11.0
18 familial calcium pyrophosphate deposition 11.0
19 central cord syndrome 10.9
20 enchondromatosis, multiple, ollier type 10.9 GPC3 KRT20
21 urinary system disease 10.8 MUC1 MUC2
22 normokalemic periodic paralysis 10.8 AFP ERBB2
23 ascending colon cancer 10.8 KRT20 MUC2
24 simple cryoglobulinemia 10.8 MUC1 PTPN3
25 luminal breast carcinoma 10.8 AFP CDX2 MUC1
26 rhinosporidiosis 10.8 CDX2 KRT20 MUC1
27 congenitally corrected transposition of the great arteries 10.8
28 breast mucinous cystadenocarcinoma 10.8 CDX2 KRT20 MUC2
29 cholangitis, primary sclerosing 10.8
30 noonan syndrome 10 10.8
31 mediastinal mesenchymal tumor 10.8 AFP GPC3
32 fibroma 10.8 CDX2 KRT20 MUC1
33 striated muscle rhabdoid tumor 10.8 KRT20 MUC1 MUC2
34 mesenchymoma 10.8 CDX2 KRT20 MUC1
35 choriocarcinoma 10.8 KRT20 MUC1 MUC2
36 childhood teratoma of the ovary 10.8 CDH1 CDX2 KRT20
37 spastic ataxia 3 10.8 CDX2 KRT20 MUC1
38 bladder tuberculosis 10.8 CDH1 ERBB2
39 pacinian tumor 10.7 CDX2 KRT20 MUC2
40 optic papillitis 10.7 CDX2 KRT20 MUC2
41 subglottis verrucous carcinoma 10.7 ERBB2 MUC1
42 angioma serpiginosum 10.7 CDH1 KRT20
43 neuroendocrine tumor 10.7 CDX2 KRT20 PTGS2
44 chondroblastoma 10.7 GPC3 KRT20 MUC1
45 fallopian tube leiomyosarcoma 10.7 CDH1 MUC1 MUC2
46 breast sarcoma 10.7 CDH1 ERBB2 MUC1
47 iris spindle cell melanoma 10.7 MUC1 NCAM1
48 adult spinal cord glioblastoma multiforme 10.7 ERBB2 KRT8
49 sleep disorder 10.7 AFP CDX2 GPC3
50 maxillary neoplasm 10.7 CDH1 CDX2 PTGS2

Graphical network of the top 20 diseases related to Cholangiocarcinoma, Susceptibility to:



Diseases related to Cholangiocarcinoma, Susceptibility to

Symptoms & Phenotypes for Cholangiocarcinoma, Susceptibility to

Clinical features from OMIM:

615619

Human phenotypes related to Cholangiocarcinoma, Susceptibility to:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
2 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
3 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
4 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
5 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
6 anorexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002039
7 acholic stools 56 32 hallmark (90%) Very frequent (99-80%) HP:0011985
8 biliary tract neoplasm 56 32 hallmark (90%) Very frequent (99-80%) HP:0100574
9 cholangiocarcinoma 32 HP:0030153

UMLS symptoms related to Cholangiocarcinoma, Susceptibility to:


abdominal pain, malaise, constipation, diarrhea, dyspepsia, heartburn, icterus, nausea and vomiting, gastrointestinal gas

GenomeRNAi Phenotypes related to Cholangiocarcinoma, Susceptibility to according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.44 AFP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 AFP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.44 KRT8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.44 KRT7 KRT8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.44 AFP KRT7 KRT8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.44 AFP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.44 KRT8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 AFP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.44 KRT7 KRT8

MGI Mouse Phenotypes related to Cholangiocarcinoma, Susceptibility to:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 KRT8 MET MUC2 PTGS2 VEGFC ASPH
2 cellular MP:0005384 10.17 CDH1 CDX2 ERBB2 GPC3 KRT19 KRT7
3 digestive/alimentary MP:0005381 10.14 ASPH CDH1 CDX2 ERBB2 GPC3 KRT19
4 homeostasis/metabolism MP:0005376 10.07 ERBB2 GPC3 KRT7 KRT8 MET MUC2
5 embryo MP:0005380 10.02 CDX2 ERBB2 GPC3 KRT19 KRT8 MCL1
6 mortality/aging MP:0010768 10 AFP ASPH CDH1 CDX2 ERBB2 GPC3
7 endocrine/exocrine gland MP:0005379 9.97 AFP CDH1 CDX2 ERBB2 KRT19 MCL1
8 neoplasm MP:0002006 9.61 AFP ASPH CDH1 CDX2 ERBB2 KRT19
9 reproductive system MP:0005389 9.32 PTGS2 AFP ASPH CDH1 CDX2 ERBB2

Drugs & Therapeutics for Cholangiocarcinoma, Susceptibility to

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 B-Receptor Signaling in Cardiomyopathy Completed NCT01135849
2 Clinical and Histopathologic Characteristics of BAP1 Mutations Recruiting NCT01773655

Search NIH Clinical Center for Cholangiocarcinoma, Susceptibility to

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cholangiocarcinoma, Susceptibility to cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cholangiocarcinoma, Susceptibility to:
Tumor infiltrating lymphocytes (TILs) for solid tumors
Embryonic/Adult Cultured Cells Related to Cholangiocarcinoma, Susceptibility to:
Tumor infiltrating lymphocytes PMIDs: 24329789 19342963 23904171 21498393 22996367 19304471 22555974 15800326 23650429 21325070 24218514 8170938 12242449

Genetic Tests for Cholangiocarcinoma, Susceptibility to

Genetic tests related to Cholangiocarcinoma, Susceptibility to:

id Genetic test Affiliating Genes
1 Cholangiocarcinoma, Susceptibility to 29
2 Cholangiocarcinoma 24 PTPN3

Anatomical Context for Cholangiocarcinoma, Susceptibility to

MalaCards organs/tissues related to Cholangiocarcinoma, Susceptibility to:

39
Liver, Small Intestine

Publications for Cholangiocarcinoma, Susceptibility to

Variations for Cholangiocarcinoma, Susceptibility to

Cosmic variations for Cholangiocarcinoma, Susceptibility to:

9 (show top 50) (show all 689)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM4172016 TSC1 biliary tract,bile duct,carcinoma,adenocarcinoma c.737+1G>A p.? 9
2 COSM308173 TRIM28 biliary tract,bile duct,carcinoma,adenocarcinoma c.1475G>T p.R492L 9
3 COSM44463 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.848G>T p.R283L 9
4 COSM10656 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.742C>T p.R248W 9
5 COSM44329 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.470T>A p.V157D 9
6 COSM10812 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.722C>T p.S241F 9
7 COSM10705 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.586C>T p.R196* 9
8 COSM43687 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.641A>G p.H214R 9
9 COSM10704 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.844C>T p.R282W 9
10 COSM10663 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.916C>T p.R306* 9
11 COSM10660 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.818G>A p.R273H 9
12 COSM10654 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.637C>T p.R213* 9
13 COSM44326 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.706T>C p.Y236H 9
14 COSM45393 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.793C>A p.L265M 9
15 COSM44114 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.826G>A p.A276T 9
16 COSM10725 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.701A>G p.Y234C 9
17 COSM43842 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.770T>C p.L257P 9
18 COSM44823 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.981T>G p.Y327* 9
19 COSM10731 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.707A>G p.Y236C 9
20 COSM43778 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.713G>T p.C238F 9
21 COSM44426 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.568C>G p.P190A 9
22 COSM44785 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.702C>G p.Y234* 9
23 COSM11582 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.395A>G p.K132R 9
24 COSM43751 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.673-1G>A p.? 9
25 COSM44523 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.863A>G p.N288S 9
26 COSM10727 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.438G>A p.W146* 9
27 COSM44786 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.694A>C p.I232L 9
28 COSM43596 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.841G>A p.D281N 9
29 COSM10690 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.473G>A p.R158H 9
30 COSM44262 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.808T>C p.F270L 9
31 COSM11078 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.1027G>T p.E343* 9
32 COSM11356 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.726C>G p.C242W 9
33 COSM10883 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.731G>A p.G244D 9
34 COSM10672 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.577C>T p.H193Y 9
35 COSM11355 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.737T>C p.M246T 9
36 COSM10893 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.824G>A p.C275Y 9
37 COSM45025 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.488A>C p.Y163S 9
38 COSM44623 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.487T>A p.Y163N 9
39 COSM44271 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.688A>C p.T230P 9
40 COSM10742 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.578A>G p.H193R 9
41 COSM43909 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.817C>A p.R273S 9
42 COSM3728361 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.782+2T>G p.? 9
43 COSM10687 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.527G>A p.C176Y 9
44 COSM10777 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.715A>G p.N239D 9
45 COSM45050 TP53 biliary tract,bile duct,carcinoma,adenocarcinoma c.871A>G p.K291E 9
46 COSM308164 SYNJ2 biliary tract,bile duct,carcinoma,adenocarcinoma c.811C>A p.L271M 9
47 COSM308304 SMAD4 biliary tract,bile duct,carcinoma,adenocarcinoma c.1659A>G p.*553W 9
48 COSM84440 SMAD4 biliary tract,bile duct,carcinoma,adenocarcinoma c.346C>T p.Q116* 9
49 COSM14169 SMAD4 biliary tract,bile duct,carcinoma,adenocarcinoma c.988G>A p.E330K 9
50 COSM308305 SMAD4 biliary tract,bile duct,carcinoma,adenocarcinoma c.404G>A p.R135Q 9

Copy number variations for Cholangiocarcinoma, Susceptibility to from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 111150 17 35097918 35138441 Copy number ERBB2 Cholangiocarcinoma
2 118016 17 7512444 7519279 Copy number P53 Cholangiocarcinoma
3 159441 21 42600000 48129895 Amplification TFF1 Cholangiocarcinoma
4 159442 21 42600000 48129895 Amplification TFF2 Cholangiocarcinoma
5 159443 21 42600000 48129895 Amplification TFF3 Cholangiocarcinoma

Expression for Cholangiocarcinoma, Susceptibility to

Search GEO for disease gene expression data for Cholangiocarcinoma, Susceptibility to.

Pathways for Cholangiocarcinoma, Susceptibility to

Pathways related to Cholangiocarcinoma, Susceptibility to according to GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1 12.45 CDH1 ERBB2 MET PTGS2 VEGFC
2
Show member pathways
12.21 MUC1 MUC2 MUC4 MUC5AC
3 12.12 CDH1 KRT19 KRT20 KRT7 KRT8 MUC1
4
Show member pathways
12 MUC1 MUC2 MUC4 MUC5AC
5
Show member pathways
11.65 CDH1 MET PTPN3
6
Show member pathways
11.6 MUC1 MUC2 MUC4 MUC5AC
7
Show member pathways
11.52 GPC3 MUC1 MUC2 MUC4 MUC5AC
8 11.51 CDH1 ERBB2 MET
9 11.25 CDH1 MET NCAM1
10 11.15 AFP CDX2 KRT19 MET NCAM1
11 11.09 KRT19 KRT8 PTGS2
12 10.99 CDH1 ERBB2 MET

GO Terms for Cholangiocarcinoma, Susceptibility to

Cellular components related to Cholangiocarcinoma, Susceptibility to according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 AFP CDH1 GPC3 MET MUC1 MUC4
2 intermediate filament GO:0005882 9.26 KRT19 KRT20 KRT7 KRT8
3 Golgi lumen GO:0005796 9.02 GPC3 MUC1 MUC2 MUC4 MUC5AC

Biological processes related to Cholangiocarcinoma, Susceptibility to according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.62 KRT19 KRT20 KRT7 KRT8
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.46 MUC1 MUC2 MUC4 MUC5AC
3 maintenance of gastrointestinal epithelium GO:0030277 9.4 MUC2 MUC4
4 entry of bacterium into host cell GO:0035635 9.37 CDH1 MET
5 cell differentiation involved in embryonic placenta development GO:0060706 9.26 KRT19 KRT8
6 cornification GO:0070268 9.26 KRT19 KRT20 KRT7 KRT8
7 O-glycan processing GO:0016266 8.92 MUC1 MUC2 MUC4 MUC5AC

Sources for Cholangiocarcinoma, Susceptibility to

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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