Extrahepatic Bile Duct Adenoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Gastrointestinal diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5438

NCIt ⁴⁹ C5857

UMLS ⁷¹ C1331534

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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. Affiliated tissues include colon, small intestine and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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	jejunal adenocarcinoma	10.1	MSH6 MLH1
10	colorectal cancer, hereditary nonpolyposis, type 4	10.1	PMS2 MLH1
11	legius syndrome	10.1	MSH6 MSH2
12	myh-associated polyposis	10.0	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	uterine corpus cancer	9.9	MSH6 MLH1
23	signet ring cell adenocarcinoma	9.9	MSH2 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	skin benign neoplasm	9.8	MSH6 MSH2 MLH1
33	endometrial hyperplasia	9.8	MSH6 MSH2 MLH1
34	familial adenomatous polyposis	9.8	MSH6 MSH2 MLH1
35	rectum cancer	9.8	MSH6 MSH2 MLH1
36	cell type benign neoplasm	9.7	MSH6 MSH2 MLH1
37	ulcerative colitis	9.7	MSH6 MSH2 MLH1
38	colitis	9.7	MSH6 MSH2 MLH1
39	colon adenocarcinoma	9.7	PMS2 MSH6 MLH1
40	ascending cholangitis	9.7	GGTLC3 GGT2
41	suppurative cholangitis	9.7	GGTLC3 GGT2
42	alveolar soft part sarcoma	9.7	MSH2 MLH1
43	familial adenomatous polyposis 2	9.6	GGTLC3 GGT2
44	cholestasis, progressive familial intrahepatic, 3	9.6	GGTLC3 GGT2
45	adenosquamous colon carcinoma	9.6	PMS2 MSH6 MSH2 MLH1
46	appendix carcinoid tumor	9.6	PMS2 MSH6 MSH2 MLH1
47	jejunal cancer	9.6	PMS2 MSH6 MSH2 MLH1
48	colorectal cancer, hereditary nonpolyposis, type 6	9.6	PMS2 MSH6 MSH2 MLH1
49	sebaceous adenoma	9.6	PMS2 MSH6 MSH2 MLH1
50	sebaceous gland neoplasm	9.6	PMS2 MSH6 MSH2 MLH1

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

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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

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Drugs & Therapeutics for Extrahepatic Bile Duct Adenoma

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

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Genetic Tests for Extrahepatic Bile Duct Adenoma

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Anatomical Context for Extrahepatic Bile Duct Adenoma

MalaCards organs/tissues related to Extrahepatic Bile Duct Adenoma:

⁴⁰

Colon, Small Intestine, Skin, Ovary, Liver, Breast, Appendix

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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	Loh KP...Mehendiratta V	26878036	2016
2	[Adenoma, cyst adenoma of the extrahepatic bile duct]. ⁶¹	Shiga J	8705558	1996

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Genes for Extrahepatic Bile Duct Adenoma

Genes related to Extrahepatic Bile Duct Adenoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	4.53	DISEASES inferred ¹⁵
2	MSH6	MutS Homolog 6	Protein Coding	4.38	DISEASES inferred ¹⁵
3	MSH2	MutS Homolog 2	Protein Coding	4.23	DISEASES inferred ¹⁵
4	MLH1	MutL Homolog 1	Protein Coding	4.09	DISEASES inferred ¹⁵
5	GGTLC3	Gamma-Glutamyltransferase Light Chain Family Member 3	Protein Coding	4.08	DISEASES inferred ¹⁵
6	GGT2	Gamma-Glutamyltransferase 2	Protein Coding	4.08	DISEASES inferred ¹⁵
7	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	4.06	DISEASES inferred ¹⁵

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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

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Expression for Extrahepatic Bile Duct Adenoma

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

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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	DNA Double-Strand Break Repair ⁶⁵ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁵ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁵ G2/M DNA damage checkpoint ⁶⁵ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁵ HDR through MMEJ (alt-NHEJ) ⁶⁵ Homology Directed Repair ⁶⁵ Non-homologous end joining ¹ Non-homologous end-joining ³⁶ Processing of DNA double-strand break ends ⁶⁵	12.81	PMS2 MSH6 MSH2 MLH1
2	DNA Damage ⁴	12.12	MSH6 MSH2 MLH1
3	Colorectal Cancer Metastasis ⁶³	11.76	MSH6 MSH2 MLH1
4	Direct p53 effectors ¹	11.62	PMS2 MSH2 MLH1
5	Mismatch repair ⁶⁵ ¹ ³⁶ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁵ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁵ Mismatch Repair in Eukaryotes ⁶³	11.43	PMS2 MSH6 MSH2 MLH1
6	Platinum drug resistance ³⁶	11.3	MSH6 MSH2 MLH1
7	Integrated Cancer Pathway ¹	11.16	MSH6 MSH2
8	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	11.06	MSH2 MLH1
9	Busulfan Pathway, Pharmacodynamics ⁶⁰ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁵	10.9	MSH2 MLH1 GGT2 GGT1
10	Eicosanoid Synthesis ¹	10.81	GGT2 GGT1
11	Aflatoxin activation and detoxification ⁶⁵	10.77	GGT2 GGT1
12	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.39	PMS2 MSH6 MSH2 MLH1

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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

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