MCID: EXT028
MIFTS: 27

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 PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are DNA Double-Strand Break Repair and DNA Damage. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 121)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.0 MSH6 MSH2 MLH1
2 extrahepatic bile duct papillary adenoma 11.6
3 periampullary adenoma 10.2 PMS2 MSH6
4 fallopian tube endometrioid adenocarcinoma 10.2 PMS2 MSH6
5 attenuated familial adenomatous polyposis 10.2 MSH6 MSH2
6 spindle cell intraocular melanoma 10.2 PMS2 MLH1
7 villous adenoma 10.1
8 cervical mucinous adenocarcinoma 10.1 MSH6 MSH2
9 colorectal cancer, hereditary nonpolyposis, type 4 10.1 PMS2 MLH1
10 jejunal adenocarcinoma 10.1 MSH6 MLH1
11 legius syndrome 10.1 MSH6 MSH2
12 myh-associated polyposis 10.1 MSH2 GGT1
13 ascending colon cancer 10.0 MSH2 MLH1
14 lower lip cancer 10.0 MSH2 MLH1
15 anal fistula 10.0 MSH2 MLH1
16 melanocytic nevus syndrome, congenital 10.0 MSH2 MLH1
17 duodenum disease 10.0 MSH2 MLH1
18 ureter, cancer of 10.0 MSH2 MLH1
19 cecum carcinoma 10.0 MSH2 MLH1
20 rhabdomyosarcoma 9.9 PMS2 MSH6 MSH2
21 familial colorectal cancer 9.9 MSH2 MLH1
22 signet ring cell adenocarcinoma 9.9 MSH2 MLH1
23 uterine corpus cancer 9.9 MSH6 MLH1
24 rectum signet ring adenocarcinoma 9.9 PMS2 MSH2 MLH1
25 adenocarcinoma 9.8 MSH6 MSH2 MLH1
26 renal pelvis transitional cell carcinoma 9.8 MSH6 MSH2 MLH1
27 cervical adenoma malignum 9.8 MSH6 MSH2 MLH1
28 autosomal dominant non-syndromic intellectual disability 8 9.8 MSH6 MSH2 MLH1
29 mental retardation, autosomal dominant 20 9.8 MSH6 MSH2 MLH1
30 dysplastic nevus syndrome 9.8 MSH6 MSH2 MLH1
31 keratoacanthoma 9.8 MSH2 MLH1
32 cholestasis, progressive familial intrahepatic, 1 9.8 GGTLC3 GGT1
33 skin benign neoplasm 9.8 MSH6 MSH2 MLH1
34 endometrial hyperplasia 9.8 MSH6 MSH2 MLH1
35 familial adenomatous polyposis 9.8 MSH6 MSH2 MLH1
36 rectum cancer 9.8 MSH6 MSH2 MLH1
37 cell type benign neoplasm 9.8 MSH6 MSH2 MLH1
38 ulcerative colitis 9.7 MSH6 MSH2 MLH1
39 colon adenocarcinoma 9.7 PMS2 MSH6 MLH1
40 colitis 9.7 MSH6 MSH2 MLH1
41 ascending cholangitis 9.7 GGTLC3 GGT2
42 suppurative cholangitis 9.7 GGTLC3 GGT2
43 alveolar soft part sarcoma 9.7 MSH2 MLH1
44 familial adenomatous polyposis 2 9.6 GGTLC3 GGT2
45 cholestasis, progressive familial intrahepatic, 3 9.6 GGTLC3 GGT2
46 adenosquamous colon carcinoma 9.6 PMS2 MSH6 MSH2 MLH1
47 appendix carcinoid tumor 9.6 PMS2 MSH6 MSH2 MLH1
48 jejunal cancer 9.6 PMS2 MSH6 MSH2 MLH1
49 colorectal cancer, hereditary nonpolyposis, type 6 9.6 PMS2 MSH6 MSH2 MLH1
50 sebaceous adenoma 9.6 PMS2 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 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.93 MLH1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.93 MLH1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.93 GGT1 GGT2 MLH1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.93 MLH1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.93 GGT1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.93 MLH1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.93 GGT2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.93 GGT2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.93 GGT2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.93 GGT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.93 MLH1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.93 GGT2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.93 GGT2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.93 MLH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.93 GGT1 GGT2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.93 GGT1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.93 GGT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.93 GGT1 GGT2 MLH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.93 GGT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.93 GGT2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.93 GGT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.93 GGT1 GGT2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.93 MLH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.93 MLH1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.93 MLH1
26 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 MLH1 MSH2 MSH6 PMS2

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 PMS2 MSH6 MSH2 MLH1
2 12.12 MSH6 MSH2 MLH1
3 11.76 MSH6 MSH2 MLH1
4 11.62 PMS2 MSH2 MLH1
5
Show member pathways
11.43 PMS2 MSH6 MSH2 MLH1
6 11.3 MSH6 MSH2 MLH1
7 11.16 MSH6 MSH2
8
Show member pathways
11.06 MSH2 MLH1
9
Show member pathways
10.9 MSH2 MLH1 GGT2 GGT1
10 10.81 GGT2 GGT1
11 10.77 GGT2 GGT1
12 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 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
2 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
3 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 20)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.86 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.84 PMS2 MSH6 MSH2 MLH1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
4 response to tumor necrosis factor GO:0034612 9.59 GGT2 GGT1
5 determination of adult lifespan GO:0008340 9.58 MSH6 MSH2
6 negative regulation of DNA recombination GO:0045910 9.58 MSH6 MSH2
7 zymogen activation GO:0031638 9.57 GGT2 GGT1
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MSH2 MLH1
9 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
10 regulation of immune system process GO:0002682 9.52 GGT2 GGT1
11 positive regulation of helicase activity GO:0051096 9.51 MSH6 MSH2
12 leukotriene D4 biosynthetic process GO:1901750 9.5 GGTLC3 GGT2 GGT1
13 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
14 maintenance of DNA repeat elements GO:0043570 9.48 MSH6 MSH2
15 peptide modification GO:0031179 9.46 GGT2 GGT1
16 glutathione catabolic process GO:0006751 9.43 GGTLC3 GGT2 GGT1
17 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
18 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
19 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
20 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 17)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.74 MSH6 MSH2 MLH1
2 enzyme binding GO:0019899 9.72 MSH6 MSH2 MLH1
3 single-stranded DNA binding GO:0003697 9.67 PMS2 MSH2 MLH1
4 ATPase activity GO:0016887 9.62 PMS2 MSH6 MSH2 MLH1
5 damaged DNA binding GO:0003684 9.56 MSH6 MSH2
6 DNA-dependent ATPase activity GO:0008094 9.54 MSH6 MSH2
7 ADP binding GO:0043531 9.52 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.51 MSH6 MSH2
9 MutSalpha complex binding GO:0032407 9.48 PMS2 MLH1
10 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
11 oxidized purine DNA binding GO:0032357 9.43 MSH6 MSH2
12 peptidyltransferase activity GO:0000048 9.4 GGT2 GGT1
13 single guanine insertion binding GO:0032142 9.37 MSH6 MSH2
14 glutathione hydrolase activity GO:0036374 9.33 GGTLC3 GGT2 GGT1
15 single thymine insertion binding GO:0032143 9.26 MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
17 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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