MCID: EXT028
MIFTS: 26

Extrahepatic Bile Duct Adenoma

Categories: Cancer diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Extrahepatic Bile Duct Adenoma

MalaCards integrated aliases for Extrahepatic Bile Duct Adenoma:

Name: Extrahepatic Bile Duct Adenoma 12 15 71
Adenoma of the Extrahepatic Bile Duct 12
Adenoma of Extrahepatic Bile Duct 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5438
NCIt 49 C5857
UMLS 71 C1331534

Summaries for Extrahepatic Bile Duct Adenoma

Disease Ontology : 12 A bile duct ademona that is composed of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium.

MalaCards based summary : Extrahepatic Bile Duct Adenoma, also known as adenoma of the extrahepatic bile duct, is related to adenoma and extrahepatic bile duct papillary adenoma. An important gene associated with Extrahepatic Bile Duct Adenoma is TYMS (Thymidylate Synthetase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Extrahepatic Bile Duct Adenoma

Diseases related to Extrahepatic Bile Duct Adenoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 adenoma 29.3 MSH6 MSH2 MLH1
2 extrahepatic bile duct papillary adenoma 11.6
3 villous adenoma 10.1
4 spindle cell intraocular melanoma 10.0 PMS2 MLH1
5 transverse colon cancer 10.0 PMS2 MLH1
6 colorectal cancer, hereditary nonpolyposis, type 4 10.0 PMS2 MLH1
7 periampullary adenoma 9.9 PMS2 MSH6
8 fallopian tube endometrioid adenocarcinoma 9.9 PMS2 MSH6
9 esophageal tuberculosis 9.9 PMS2 MSH6
10 bilateral breast cancer 9.8 MSH6 MLH1
11 familial colorectal cancer 9.8 MSH2 MLH1
12 ascending colon cancer 9.8 MSH2 MLH1
13 lower lip cancer 9.8 MSH2 MLH1
14 anal fistula 9.7 MSH2 MLH1
15 melanocytic nevus syndrome, congenital 9.7 MSH2 MLH1
16 ureter, cancer of 9.7 MSH2 MLH1
17 uterine body mixed cancer 9.7 MSH2 MLH1
18 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
19 polyposis syndrome, hereditary mixed, 1 9.7 MSH2 MLH1
20 skin melanoma 9.7 PMS2 MLH1
21 signet ring cell adenocarcinoma 9.7 MSH2 MLH1
22 legius syndrome 9.7 MSH6 MSH2
23 keratoacanthoma 9.6 MSH2 MLH1
24 b-lymphoblastic leukemia/lymphoma 9.6 MSH6 MSH2
25 lymphangioma 9.6 MSH2 MLH1
26 alveolar soft part sarcoma 9.6 MSH2 MLH1
27 jejunal adenocarcinoma 9.6 PMS2 MSH6 MLH1
28 colorectal adenoma 9.5 MSH2 MLH1
29 rectum signet ring adenocarcinoma 9.4 PMS2 MSH2 MLH1
30 adenocarcinoma 9.4 MSH6 MSH2 MLH1
31 renal pelvis transitional cell carcinoma 9.4 MSH6 MSH2 MLH1
32 autosomal dominant non-syndromic intellectual disability 8 9.3 MSH6 MSH2 MLH1
33 endometrioid ovary carcinoma 9.3 MSH6 MSH2 MLH1
34 esophagus sarcoma 9.3 PMS2 MSH6 MSH2
35 breast-ovarian cancer, familial 1 9.3 MSH6 MSH2 MLH1
36 cecum carcinoma 9.3 MSH6 MSH2 MLH1
37 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
38 cowden syndrome 1 9.3 MSH6 MSH2
39 endometrial hyperplasia 9.3 MSH6 MSH2 MLH1
40 gastrointestinal system benign neoplasm 9.3 MSH6 MSH2 MLH1
41 ulcerative colitis 9.3 MSH6 MSH2 MLH1
42 colitis 9.3 MSH6 MSH2 MLH1
43 lymphoma 9.2 PMS2 MSH6 MSH2
44 leukemia, acute lymphoblastic 9.2 TYMS PMS2 MSH2
45 colon adenocarcinoma 9.2 TYMS PMS2 MSH6 MLH1
46 rhabdomyosarcoma 9.2 PMS2 MSH6 MSH2
47 xeroderma pigmentosum, variant type 9.2 MSH6 MSH2 MLH1
48 ocular cancer 9.2 MSH6 MSH2
49 brain cancer 9.1 PMS2 MSH6 MSH2
50 rectum cancer 9.0 TYMS MSH6 MSH2 MLH1

Graphical network of the top 20 diseases related to Extrahepatic Bile Duct Adenoma:



Diseases related to Extrahepatic Bile Duct Adenoma

Symptoms & Phenotypes for Extrahepatic Bile Duct Adenoma

GenomeRNAi Phenotypes related to Extrahepatic Bile Duct Adenoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.17 MLH1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.17 MLH1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 MLH1 MSH2 MSH6 PMS2 TYMS

MGI Mouse Phenotypes related to Extrahepatic Bile Duct Adenoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 MLH1 MSH2 MSH6 PMS2

Drugs & Therapeutics for Extrahepatic Bile Duct Adenoma

Search Clinical Trials , NIH Clinical Center for Extrahepatic Bile Duct Adenoma

Genetic Tests for Extrahepatic Bile Duct Adenoma

Anatomical Context for Extrahepatic Bile Duct Adenoma

Publications for Extrahepatic Bile Duct Adenoma

Articles related to Extrahepatic Bile Duct Adenoma:

# Title Authors PMID Year
1
Adenomas involving the extrahepatic biliary tree are rare but have an aggressive clinical course. 61
26878036 2016
2
[Adenoma, cyst adenoma of the extrahepatic bile duct]. 61
8705558 1996

Variations for Extrahepatic Bile Duct Adenoma

Cosmic variations for Extrahepatic Bile Duct Adenoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87804005 KRAS biliary tract,bile duct,other,adenoma c.35G>A p.G12D 12:25245350-25245350 0

Expression for Extrahepatic Bile Duct Adenoma

Search GEO for disease gene expression data for Extrahepatic Bile Duct Adenoma.

Pathways for Extrahepatic Bile Duct Adenoma

Pathways related to Extrahepatic Bile Duct Adenoma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 PMS2 MSH6 MSH2 MLH1
2
Show member pathways
12.56 PMS2 MSH2 MLH1
3
Show member pathways
12.51 MSH6 MSH2 MLH1
4
Show member pathways
12.43 MSH6 MSH2 MLH1
5 12.4 MSH6 MSH2 MLH1
6 11.93 TYMS MSH6 MSH2 MLH1
7 11.76 MSH6 MSH2 MLH1
8 11.62 PMS2 MSH2 MLH1
9 11.52 PMS2 MLH1
10 11.48 TYMS MSH6
11
Show member pathways
11.44 MSH6 MSH2
12 11.3 MSH6 MSH2 MLH1
13
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
14 11.14 MSH6 MSH2
15
Show member pathways
11.1 MSH2 MLH1
16
Show member pathways
11.03 MSH2 MLH1
17 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for Extrahepatic Bile Duct Adenoma

Cellular components related to Extrahepatic Bile Duct Adenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.43 MSH6 MSH2 MLH1
2 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

Biological processes related to Extrahepatic Bile Duct Adenoma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.71 PMS2 MSH6 MSH2 MLH1
3 determination of adult lifespan GO:0008340 9.54 MSH6 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.54 MSH6 MSH2 MLH1
5 negative regulation of DNA recombination GO:0045910 9.52 MSH6 MSH2
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.48 MSH6 MSH2
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MSH2 MLH1
9 maintenance of DNA repeat elements GO:0043570 9.43 MSH6 MSH2
10 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
11 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
13 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
14 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

Molecular functions related to Extrahepatic Bile Duct Adenoma according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.87 TYMS MSH6 MSH2 MLH1
2 ATP binding GO:0005524 9.84 PMS2 MSH6 MSH2 MLH1
3 chromatin binding GO:0003682 9.73 MSH6 MSH2 MLH1
4 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
5 single-stranded DNA binding GO:0003697 9.63 PMS2 MSH2 MLH1
6 double-stranded DNA binding GO:0003690 9.58 MSH6 MSH2
7 damaged DNA binding GO:0003684 9.55 MSH6 MSH2
8 DNA-dependent ATPase activity GO:0008094 9.51 MSH6 MSH2
9 ADP binding GO:0043531 9.49 MSH6 MSH2
10 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
11 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
12 MutSalpha complex binding GO:0032407 9.43 PMS2 MLH1
13 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
14 oxidized purine DNA binding GO:0032357 9.37 MSH6 MSH2
15 single guanine insertion binding GO:0032142 9.32 MSH6 MSH2
16 single thymine insertion binding GO:0032143 9.26 MSH6 MSH2
17 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
18 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Extrahepatic Bile Duct Adenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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