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 50 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 Regulation of TP53 Activity. 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 93)
# Related Disease Score Top Affiliating Genes
1 adenoma 29.6 MSH6 MSH2 MLH1
2 extrahepatic bile duct papillary adenoma 11.4
3 villous adenoma 10.2
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 10.0 PMS2 MSH6
8 esophageal tuberculosis 9.9 PMS2 MSH6
9 fallopian tube endometrioid adenocarcinoma 9.9 PMS2 MSH6
10 endometrioid ovary carcinoma 9.9 MSH6 MLH1
11 rectosigmoid cancer 9.9 PMS2 MSH6
12 transitional cell carcinoma 9.9 MSH2 MLH1
13 uterine body mixed cancer 9.9 MSH6 MLH1
14 intracranial meningioma 9.8 MSH2 MLH1
15 ascending colon cancer 9.8 MSH2 MLH1
16 lower lip cancer 9.8 MSH2 MLH1
17 anal fistula 9.8 MSH2 MLH1
18 silent pituitary adenoma 9.8 MSH6 MSH2
19 melanocytic nevus syndrome, congenital 9.8 MSH2 MLH1
20 bilateral breast cancer 9.8 MSH6 MLH1
21 ureter, cancer of 9.8 MSH2 MLH1
22 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
23 signet ring cell adenocarcinoma 9.7 MSH2 MLH1
24 legius syndrome 9.7 MSH6 MSH2
25 familial colorectal cancer 9.7 MSH2 MLH1
26 jejunal adenocarcinoma 9.7 PMS2 MSH6 MLH1
27 keratoacanthoma 9.7 MSH2 MLH1
28 alveolar soft part sarcoma 9.6 MSH2 MLH1
29 colon adenocarcinoma 9.6 PMS2 MSH6 MLH1
30 rectum signet ring adenocarcinoma 9.6 PMS2 MSH2 MLH1
31 colorectal adenoma 9.6 MSH2 MLH1
32 adenocarcinoma 9.6 MSH6 MSH2 MLH1
33 renal pelvis transitional cell carcinoma 9.6 MSH6 MSH2 MLH1
34 autosomal dominant non-syndromic intellectual disability 8 9.5 MSH6 MSH2 MLH1
35 esophagus sarcoma 9.5 PMS2 MSH6 MSH2
36 cervical adenosarcoma 9.5 PMS2 MSH6 MSH2
37 t-cell non-hodgkin lymphoma 9.5 PMS2 MSH6 MSH2
38 breast-ovarian cancer, familial 1 9.5 MSH6 MSH2 MLH1
39 cecum carcinoma 9.5 MSH6 MSH2 MLH1
40 skin benign neoplasm 9.5 MSH6 MSH2 MLH1
41 endometrial hyperplasia 9.5 MSH6 MSH2 MLH1
42 gastrointestinal system benign neoplasm 9.5 MSH6 MSH2 MLH1
43 rectum cancer 9.5 MSH6 MSH2 MLH1
44 familial adenomatous polyposis 9.5 MSH6 MSH2 MLH1
45 melanoma, cutaneous malignant 1 9.5 MSH6 MSH2 MLH1
46 ulcerative colitis 9.5 MSH6 MSH2 MLH1
47 colitis 9.5 MSH6 MSH2 MLH1
48 ocular cancer 9.4 MSH6 MSH2
49 xeroderma pigmentosum, variant type 9.4 MSH6 MSH2 MLH1
50 adenosquamous colon carcinoma 9.3 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 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.8 PMS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.8 PMS2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.8 PMS2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.8 PMS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.8 PMS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.8 PMS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.8 MSH2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.8 MSH2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.8 MSH2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 9.8 PMS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.8 PMS2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.8 MSH2 PMS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.8 PMS2
14 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 MLH1
15 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 MLH1
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 PMS2

MGI Mouse Phenotypes related to Extrahepatic Bile Duct Adenoma:

46
# 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

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
12.67 PMS2 MSH6 MSH2 MLH1
2
Show member pathways
12.54 PMS2 MSH2 MLH1
3
Show member pathways
12.48 MSH6 MSH2 MLH1
4
Show member pathways
12.43 MSH6 MSH2 MLH1
5 12.4 MSH6 MSH2 MLH1
6 12.05 MSH6 MSH2 MLH1
7 11.75 MSH6 MSH2
8 11.72 MSH6 MSH2 MLH1
9 11.55 PMS2 MSH2 MLH1
10 11.53 PMS2 MLH1
11
Show member pathways
11.46 MSH6 MSH2
12
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
13 11.2 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 9.73 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 negative regulation of DNA recombination GO:0045910 9.52 MSH6 MSH2
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 MSH2 MLH1
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 MSH6 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.49 MSH6 MSH2
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
9 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
10 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MSH2 MLH1
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 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 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.72 MSH6 MSH2 MLH1
3 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
4 double-stranded DNA binding GO:0003690 9.57 MSH6 MSH2
5 damaged DNA binding GO:0003684 9.56 MSH6 MSH2
6 ADP binding GO:0043531 9.54 MSH6 MSH2
7 single-stranded DNA binding GO:0003697 9.54 PMS2 MSH2 MLH1
8 DNA-dependent ATPase activity GO:0008094 9.51 MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
10 MutSalpha complex binding GO:0032407 9.46 PMS2 MLH1
11 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
12 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
13 oxidized purine DNA binding GO:0032357 9.4 MSH6 MSH2
14 single guanine insertion binding GO:0032142 9.32 MSH6 MSH2
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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