MCID: AMP010
MIFTS: 37

Ampulla of Vater Carcinoma malady

Cancer, Liver categories

Summaries for Ampulla of Vater Carcinoma

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33MalaCards
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MalaCards: Ampulla of Vater Carcinoma, also known as carcinoma of ampulla of vater, is related to neuroendocrine carcinoma and large cell carcinoma. An important gene associated with Ampulla of Vater Carcinoma is PSG2 (pregnancy specific beta-1-glycoprotein 2), and among its related pathways are CREB Pathway and Keap1-Nrf2 Pathway. The compounds sialic acid and adp have been mentioned in the context of this disorder. Related mouse phenotypes are integument and embryogenesis.

Aliases & Classifications for Ampulla of Vater Carcinoma

Sources:
8Disease Ontology, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Liver


Characteristics (Orphanet epidemiological data):

49
ampullary carcinoma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

ampulla of vater carcinoma 8 10
carcinoma of ampulla of vater 8 61
ampullary carcinoma 8 49
carcinoma of the ampulla of vater 49
ampulla of vater cancer 8
ampulloma 49


External Ids:

Disease Ontology8 DOID:4932
NCIt40 C3908
SNOMED-CT57 254609000
ICD10 via Orphanet26 C24.1
ICD1025 C24.1

Related Diseases for Ampulla of Vater Carcinoma

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ampulla of Vater Carcinoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1neuroendocrine carcinoma31.2MUC1, KIT, KRT7
2large cell carcinoma30.9EGFR, KRT7, ERBB2
3adenocarcinoma30.7ERBB2, KRT7, FGFR2, MUC1, MUC5AC, MUC6
4squamous cell carcinoma30.7PSG2, PIK3CA, EGFR, MUC2, MUC6, MUC5AC
5fibromatosis30.5KIT
6adenosquamous carcinoma30.5EGFR, MUC2, MUC5AC, MUC1, KRT7
7papillary carcinoma30.5BRAF, MUC2, MUC1, KRT7, ERBB2
8pancreatic ductal carcinoma30.4KRT7, MUC5AC, MUC6, MUC2
9adenoma30.4KRT7, EPHB2, MUC1, MUC5B, MUC5AC, MUC6
10bladder carcinoma30.0PSG2, PIK3CA, EGFR, MUC2, FGFR2, ERBB2
11small cell carcinoma10.4
12intestinal neuroendocrine tumor10.4
13acinar cell carcinoma10.4
14desmoid tumor10.4
15gardner syndrome10.4
16bile duct carcinoma10.2
17annular pancreas10.2
18whipple disease10.1
19situs inversus10.1
20spondyloarthropathy10.1
21endometriosis10.0PSG2
22myeloma10.0PSG2
23sinusitis10.0MUC5B
24leiomyoma10.0KIT
25inflammatory bowel disease10.0MUC2
26gastrointestinal stromal tumor10.0KIT
27angiomyolipoma10.0KIT
28germ cell tumors10.0KIT
29pancreas disease10.0PSG2
30pituitary adenoma10.0FGFR2
31myeloid leukemia10.0KIT
32bilateral breast cancer10.0ATM
33allergic rhinitis10.0MUC2
34colon adenocarcinoma10.0MUC5AC, MUC2
35otitis media10.0MUC5B, MUC5AC
36esophageal cancer10.0EGFR
37renal oncocytoma10.0KRT7
38paraganglioma10.0PSG2, KIT
39wilms tumor10.0KRT7
40papilloma10.0MUC2, MUC5AC
41cholesteatoma10.0FGFR2
42hidradenoma10.0MUC1
43skin cancer10.0KRT7
44perineurioma10.0MUC1
45sertoli cell tumor10.0MUC1
46hepatitis c10.0MCRS1, EPHA3
47gastritis10.0MUC6, MUC5AC, MUC5B
48biliary papillomatosis10.0MUC2, MUC6, MUC5B
49metanephric adenoma10.0KRT7
50cervical adenocarcinoma10.0KRT7, MUC5AC

Graphical network of the top 20 diseases related to Ampulla of Vater Carcinoma:



Diseases related to ampulla of vater carcinoma

Clinical Features for Ampulla of Vater Carcinoma

Drugs & Therapeutics for Ampulla of Vater Carcinoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ampulla of Vater Carcinoma

Anatomical Context for Ampulla of Vater Carcinoma

Animal Models for Ampulla of Vater Carcinoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ampulla of Vater Carcinoma:

37 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.2PIK3CA, FGFR2
2MP:000538010.0ERBB2, FGFR2
3MP:00053699.8BRAF
4MP:00053799.4PIK3CA, ATM, MUC2, FGFR2, KIT
5MP:00053888.9EGFR, EPHA3, FGFR2, ERBB2
6MP:00053768.8PIK3CA, MUC2, MUC5AC, EPHA3, FGFR2
7MP:00053898.6BRAF, PIK3CA, EGFR, EPHB2, FGFR2, ERBB2
8MP:00053828.6BRAF, EGFR, EPHB2, FGFR2, KIT, ERBB2
9MP:00053708.5BRAF, EGFR, MUC1, EPHA3, FGFR2, KIT
10MP:00053918.4BRAF, PIK3CA, EGFR, MUC1, EPHB2, FGFR2
11MP:00053678.3BRAF, EGFR, EPHB2, FGFR2, KIT, KRT7
12MP:00053858.0BRAF, PIK3CA, EGFR, MUC2, EPHA3, FGFR2
13MP:00053867.8BRAF, PIK3CA, ATM, EPHA3, EPHB2, FGFR2
14MP:00020067.7ERBB2, BRAF, PIK3CA, EGFR, ATM, MUC2
15MP:00053787.6BRAF, PIK3CA, EGFR, ATM, MUC2, EPHB2
16MP:00053877.4PIK3CA, EGFR, ATM, MUC2, MUC5AC, FGFR2
17MP:00053847.3BRAF, PIK3CA, EGFR, ATM, MUC2, EPHB2
18MP:00107687.3BRAF, PIK3CA, EGFR, ATM, MUC2, EPHA3
19MP:00053817.2BRAF, EGFR, MUC2, MUC5AC, MUC1, EPHB2

Publications for Ampulla of Vater Carcinoma

Genetic Variations for Ampulla of Vater Carcinoma

Expression for genes affiliated with Ampulla of Vater Carcinoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ampulla of Vater Carcinoma

Search GEO for disease gene expression data for Ampulla of Vater Carcinoma.

Pathways for genes affiliated with Ampulla of Vater Carcinoma

Sources:
52QIAGEN, 38NCBI BioSystems Database, 60Tocris Bioscience, 4Cell Signaling Technology, 30KEGG, 12EMD Millipore, 53R&D Systems, 56SinoBiological, 50PharmGKB, 54Reactome
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Pathways related to Ampulla of Vater Carcinoma according to GeneCards/GeneDecks:

(show all 50)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.0FGFR2, KIT
29.9EPHB2, PIK3CA
3
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9.6PIK3CA, ATM, FGFR2
49.6KIT, FGFR2, EPHA3
5
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9.6FGFR2, EPHB2, EPHA3
6
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9.6FGFR2, ATM, BRAF
7
Cell adhesion Ephrins signaling
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9.5PIK3CA, EPHA3, EPHB2
89.3EGFR, PIK3CA, BRAF
9
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9.3EGFR, PIK3CA, BRAF
109.3BRAF, PIK3CA, EGFR
119.2ERBB2, FGFR2, EGFR
129.2EGFR, FGFR2, ERBB2
139.2BRAF, EGFR, EPHA3
149.2PIK3CA, EGFR, ERBB2
15
Transcription Androgen Receptor nuclear signaling
Hide members
9.2ERBB2, EGFR, PIK3CA
169.2PIK3CA, EGFR, ERBB2
179.2PIK3CA, EGFR, ERBB2
189.1KIT, FGFR2, EGFR, PIK3CA
199.1ERBB2, MUC1, EGFR
20
Hide members
9.1BRAF, PIK3CA, EGFR, FGFR2
21
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8.9ERBB2, FGFR2, EGFR, BRAF
228.9PIK3CA, EGFR, ATM, ERBB2
238.9ERBB2, ATM, EGFR, PIK3CA
24
Hide members
8.9ERBB2, EGFR, PIK3CA, BRAF
25
Translation Insulin regulation of translation
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8.9BRAF, PIK3CA, EGFR, ERBB2
26
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8.9BRAF, PIK3CA, EGFR, ERBB2
27
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8.9BRAF, PIK3CA, EGFR, ERBB2
288.9BRAF, PIK3CA, EGFR, ERBB2
29
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8.9ERBB2, EGFR, PIK3CA, BRAF
30
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8.8MUC2, MUC5AC, MUC5B, MUC1
31
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8.8KIT, FGFR2, EGFR, PIK3CA, BRAF
32
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8.8BRAF, EPHA3, EPHB2, FGFR2, ERBB2
33
Mucin expression in CF via IL-6, IL-17 signaling pathways
8.7MUC5B, MUC5AC, MUC2, EGFR
34
Hide members
8.7PIK3CA, EGFR, FGFR2, KIT, ERBB2
35
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8.7PIK3CA, EGFR, FGFR2, KIT, ERBB2
368.7ERBB2, KIT, FGFR2, EGFR, PIK3CA
37
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8.7PIK3CA, EGFR, FGFR2, KIT, ERBB2
38
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8.6BRAF, PIK3CA, EGFR, KIT, ERBB2
39
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8.6MUC2, MUC6, MUC5AC, MUC5B, MUC1
40
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8.4BRAF, PIK3CA, EGFR, MUC1, ERBB2
41
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8.4BRAF, ATM, EPHA3, EPHB2, FGFR2, ERBB2
42
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8.3BRAF, PIK3CA, EGFR, FGFR2, KIT, ERBB2
438.3BRAF, PIK3CA, EGFR, FGFR2, KIT, ERBB2
44
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8.3EGFR, EPHA3, EPHB2, FGFR2, KIT, ERBB2
45
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8.3EGFR, EPHA3, EPHB2, FGFR2, KIT, ERBB2
46
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8.3BRAF, EGFR, ATM, FGFR2, KIT, ERBB2
47
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8.0BRAF, EGFR, EPHA3, EPHB2, FGFR2, KIT
48
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8.0BRAF, EGFR, EPHA3, EPHB2, FGFR2, KIT
49
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8.0BRAF, EGFR, EPHA3, EPHB2, FGFR2, KIT
50
Hide members
8.0BRAF, EGFR, EPHA3, EPHB2, FGFR2, KIT

Compounds for genes affiliated with Ampulla of Vater Carcinoma

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience
See all sources

Compounds related to Ampulla of Vater Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1sialic acid4510.3KRT7
2adp45 29 2412.3FGFR2, EPHA3
3hematoxylin459.9KIT, KRT7, PSG2
4Regorafenib119.6KIT, FGFR2, BRAF
5crcs459.5BRAF, MUC1, MUC2, PIK3CA
6capecitabine45 50 1111.5ERBB2, KIT, EGFR
717-(allylamino)-17-demethoxygeldanamycin459.4ERBB2, EPHA3, KIT, BRAF
85-methylthioadenosine459.4EGFR, ERBB2, FGFR2
9everolimus50 45 1111.3PIK3CA, EGFR, KIT, ERBB2
10erlotinib45 50 1111.2KIT, ERBB2, PIK3CA, EGFR
11irinotecan45 50 1111.1BRAF, EGFR, KIT, ERBB2
12sunitinib45 50 1111.1EGFR, ERBB2, KIT
13geldanamycin45 50 60 1112.0KIT, ERBB2, BRAF, EGFR
14gefitinib45 50 1110.9EPHA3, PIK3CA, ERBB2, KIT, EGFR
15docetaxel45 50 60 1111.9ERBB2, KIT, EGFR, PIK3CA
16paclitaxel45 50 1110.9PIK3CA, EGFR, FGFR2, ERBB2, BRAF
17p002458.9PSG2, KIT, ERBB2, BRAF
18formaldehyde45 249.9KRT7, MUC1, KIT, ERBB2, PSG2
19serine458.7EPHA3, PIK3CA, MUC2, ERBB2, MUC5AC
20trastuzumab45 50 1110.7ERBB2, PIK3CA, KIT, EGFR, FGFR2, MUC1
21glycogen45 249.7PSG2, PIK3CA, EPHA3, KIT, MUC1, KRT7
22ag 1478458.6MUC5AC, ERBB2, EGFR, PIK3CA
23imatinib45 50 1110.6ERBB2, BRAF, KIT, EPHA3, EGFR, PIK3CA
24ly294002458.6EGFR, ERBB2, MUC2, ATM, BRAF, PIK3CA
25agar458.6FGFR2, EGFR, ERBB2, MUC1, PIK3CA, BRAF
26doxorubicin45 50 1110.5ATM, FGFR2, PSG2, ERBB2, KIT, EGFR
27nitric oxide45 11 2410.5MUC1, MUC5AC, PSG2, PIK3CA, ATM, KIT
28tamoxifen45 50 29 1111.5ERBB2, PIK3CA, EGFR, MUC1, EPHA3, FGFR2
29phosphoinositide458.5EPHA3, KIT, ATM, PIK3CA, EPHB2, BRAF
30polysaccharide458.3MUC6, MUC5AC, MUC1, FGFR2, KRT7
31n acetylcysteine458.3ERBB2, FGFR2, EGFR, MUC5AC, ATM
32sb 20358045 609.3BRAF, MUC5AC, EGFR, MUC2, EPHA3, EPHB2
33cisplatin45 50 60 1111.2ERBB2, FGFR2, BRAF, MUC1, ATM, EGFR
34phosphotyrosine458.2ERBB2, PIK3CA, EGFR, MUC5AC, FGFR2, KIT
35methotrexate45 50 1110.2MUC2, MUC5AC, MUC1, KIT, KRT7, ERBB2
36rapamycin458.1FGFR2, ERBB2, EPHA3, ATM, EGFR, PIK3CA
37lipid457.9EPHA3, KRT7, FGFR2, PSG2, PIK3CA, ATM
38glucose457.8PSG2, KRT7, MUC2, FGFR2, MUC1, MUC5AC
39Adenosine triphosphate11 248.8BRAF, FGFR2, EPHB2, KIT, EPHA3, ATM
40threonine457.6FGFR2, KIT, MUC5AC, EPHA3, MUC1, MUC2
41pd 98,059457.5PIK3CA, BRAF, EGFR, MUC2, MUC5AC, FGFR2
42vegf457.3EGFR, PSG2, BRAF, EPHA3, PIK3CA, MUC1
435fluorouracil457.2ERBB2, KIT, MUC1, PSG2, PIK3CA, EGFR
44testosterone45 60 11 2410.0PIK3CA, KIT, EGFR, MUC5AC, MUC1, EPHA3
45phosphatidylinositol457.0FGFR2, ERBB2, EPHB2, EPHA3, KIT, ATM
46retinoic acid45 247.9PIK3CA, EGFR, MUC2, MUC5AC, MUC1, EPHB2
47calcium45 50 11 249.7MUC5AC, BRAF, PIK3CA, MUC2, MUC6, EPHA3
48progesterone45 60 29 11 2410.6MUC6, MUC5AC, EGFR, FGFR2, KIT, KRT7
49paraffin456.3ERBB2, BRAF, PSG2, EGFR, ATM, MUC2
50tyrosine456.0KIT, MUC5AC, FGFR2, ERBB2, EPHB2, EPHA3

GO Terms for genes affiliated with Ampulla of Vater Carcinoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Ampulla of Vater Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057968.6MUC1, MUC5B, MUC5AC, MUC6, MUC2

Biological processes related to Ampulla of Vater Carcinoma according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine phosphorylationGO:0181089.8EPHB2, FGFR2, KIT
2signal transduction by phosphorylationGO:0230149.8ERBB2, KIT
3regulation of ERK1 and ERK2 cascadeGO:0703729.5ERBB2, FGFR2
4positive regulation of epithelial cell proliferationGO:0506799.4ERBB2, FGFR2, EGFR
5positive regulation of ERK1 and ERK2 cascadeGO:0703749.3BRAF, EGFR, FGFR2
6protein phosphorylationGO:0064689.1ERBB2, EPHB2, ATM, BRAF
7phosphatidylinositol-mediated signalingGO:0480158.9PIK3CA, EGFR, FGFR2, KIT, ERBB2
8Fc-epsilon receptor signaling pathwayGO:0380958.9PIK3CA, EGFR, FGFR2, KIT, ERBB2
9protein autophosphorylationGO:0467778.9ERBB2, KIT, FGFR2, ATM, EGFR
10epidermal growth factor receptor signaling pathwayGO:0071738.9ERBB2, KIT, FGFR2, EGFR, PIK3CA
11O-glycan processingGO:0162668.9MUC1, MUC5B, MUC5AC, MUC6, MUC2
12post-translational protein modificationGO:0436878.8MUC2, MUC6, MUC5AC, MUC5B, MUC1
13innate immune responseGO:0450878.7PIK3CA, EGFR, FGFR2, KIT, ERBB2
14cellular protein metabolic processGO:0442678.7MUC2, MUC6, MUC5AC, MUC5B, MUC1
15fibroblast growth factor receptor signaling pathwayGO:0085438.6BRAF, PIK3CA, EGFR, FGFR2, KIT, ERBB2
16neurotrophin TRK receptor signaling pathwayGO:0480118.6BRAF, PIK3CA, EGFR, FGFR2, KIT, ERBB2

Molecular functions related to Ampulla of Vater Carcinoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:0163039.9ATM, PIK3CA
2epidermal growth factor-activated receptor activityGO:0050069.4ERBB2, EGFR
3receptor signaling protein tyrosine kinase activityGO:0047169.4KIT, ERBB2, EGFR
4transmembrane receptor protein tyrosine kinase activityGO:0047149.2KIT, EGFR, ERBB2
5extracellular matrix structural constituentGO:0052018.9MUC6, MUC5B, MUC5AC
6protein tyrosine kinase activityGO:0047138.9ERBB2, KIT, FGFR2, EPHB2, EGFR
7ATP bindingGO:0055247.5PIK3CA, ERBB2, KIT, FGFR2, EPHB2, EPHA3
8protein bindingGO:0055155.4KRT7, MCRS1, MUC2, BRAF, PIK3CA, EGFR

Products for genes affiliated with Ampulla of Vater Carcinoma

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Sources for Ampulla of Vater Carcinoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet