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 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)

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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 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:

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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

#	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

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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

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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	TYMS	Thymidylate Synthetase	Protein Coding	4.74	DISEASES inferred ¹⁵
2	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	4.68	DISEASES inferred ¹⁵
3	MSH6	MutS Homolog 6	Protein Coding	4.54	DISEASES inferred ¹⁵
4	MSH2	MutS Homolog 2	Protein Coding	4.41	DISEASES inferred ¹⁵
5	MLH1	MutL Homolog 1	Protein Coding	4.27	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 17)

#	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	12.71	PMS2 MSH6 MSH2 MLH1
2	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.56	PMS2 MSH2 MLH1
3	TCR Signaling (Qiagen) ⁶³ Show member pathways ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.51	MSH6 MSH2 MLH1
4	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.43	MSH6 MSH2 MLH1
5	Pathways in cancer ³⁶	12.4	MSH6 MSH2 MLH1
6	DNA Damage ⁴	11.93	TYMS MSH6 MSH2 MLH1
7	Colorectal Cancer Metastasis ⁶³	11.76	MSH6 MSH2 MLH1
8	Direct p53 effectors ¹	11.62	PMS2 MSH2 MLH1
9	Fanconi anemia pathway ⁶⁵ ³⁶	11.52	PMS2 MLH1
10	Retinoblastoma (RB) in Cancer ¹	11.48	TYMS MSH6
11	BRCA1 Pathway ⁶³ Show member pathways Fanconi's Anaemia Pathway ⁶³	11.44	MSH6 MSH2
12	Platinum drug resistance ³⁶	11.3	MSH6 MSH2 MLH1
13	Mismatch repair ¹ ³⁶ ⁶⁵ 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	11.23	PMS2 MSH6 MSH2 MLH1
14	Integrated Cancer Pathway ¹	11.14	MSH6 MSH2
15	Busulfan Pathway, Pharmacodynamics ⁶⁰ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁵	11.1	MSH2 MLH1
16	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	11.03	MSH2 MLH1
17	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	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

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