MCID: PRM190
MIFTS: 27

Periampullary Adenoma

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Periampullary Adenoma

MalaCards integrated aliases for Periampullary Adenoma:

Name: Periampullary Adenoma 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050849

Summaries for Periampullary Adenoma

Disease Ontology : 12 An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential.

MalaCards based summary : Periampullary Adenoma is related to adenoma and familial adenomatous polyposis. An important gene associated with Periampullary Adenoma is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are TCR Signaling (Qiagen) and MAPK signaling pathway. Related phenotypes are Decreased viability and Decreased viability

Related Diseases for Periampullary Adenoma

Diseases related to Periampullary Adenoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 adenoma 29.8 MSH6 KRAS APC
2 familial adenomatous polyposis 29.2 MSH6 KRAS HRAS APC
3 duodenal benign neoplasm 10.2 HRAS APC
4 b-lymphoblastic leukemia/lymphoma with t 10.1 MSH6 APC
5 oropharynx cancer 10.1 HRAS APC
6 mismatch repair cancer syndrome 10.0 PMS2 MSH6
7 attenuated familial adenomatous polyposis 10.0 MSH6 APC
8 extrahepatic bile duct adenoma 10.0 PMS2 MSH6
9 adenosquamous colon carcinoma 10.0 PMS2 MSH6
10 appendix carcinoid tumor 10.0 PMS2 MSH6
11 jejunal cancer 10.0 PMS2 MSH6
12 jejunal adenocarcinoma 10.0 PMS2 MSH6
13 esophageal tuberculosis 10.0 PMS2 MSH6
14 colorectal cancer, hereditary nonpolyposis, type 6 10.0 PMS2 MSH6
15 legius syndrome 10.0 MSH6 HRAS
16 esophagus sarcoma 10.0 PMS2 MSH6
17 sebaceous gland neoplasm 10.0 PMS2 MSH6
18 cervical adenosarcoma 10.0 PMS2 MSH6
19 sebaceous adenoma 10.0 PMS2 MSH6
20 t-cell non-hodgkin lymphoma 10.0 PMS2 MSH6
21 fallopian tube endometrioid adenocarcinoma 10.0 PMS2 MSH6
22 dysplastic nevus syndrome 10.0 PMS2 MSH6
23 pituitary carcinoma 10.0 PMS2 MSH6
24 serrated polyposis syndrome 10.0 KRAS APC
25 sebaceous adenocarcinoma 10.0 PMS2 MSH6
26 hereditary nonpolyposis colon cancer 10.0 PMS2 MSH6
27 hepatic flexure cancer 10.0 KRAS HRAS
28 trachea carcinoma in situ 10.0 KRAS HRAS
29 signet ring basal cell carcinoma 10.0 KRAS HRAS
30 cobblestone retinal degeneration 10.0 KRAS HRAS
31 immature teratoma of ovary 10.0 KRAS HRAS
32 pancreatic signet ring cell adenocarcinoma 10.0 KRAS HRAS
33 signet ring cell adenocarcinoma 10.0 KRAS HRAS
34 descending colon cancer 10.0 KRAS HRAS
35 hereditary mixed polyposis syndrome 9.9 PMS2 MSH6
36 bone giant cell sarcoma 9.9 KRAS HRAS
37 acneiform dermatitis 9.9 KRAS HRAS
38 appendiceal neoplasm 9.9 KRAS HRAS
39 gallbladder benign neoplasm 9.9 KRAS HRAS
40 muir-torre syndrome 9.9 PMS2 MSH6
41 adenosquamous lung carcinoma 9.9 KRAS HRAS
42 appendix adenocarcinoma 9.9 KRAS HRAS
43 mucinous lung adenocarcinoma 9.9 KRAS HRAS
44 wolffian duct adenocarcinoma 9.9 KRAS HRAS
45 noonan syndrome-like disorder with loose anagen hair 1 9.9 KRAS HRAS
46 noonan syndrome-like disorder with loose anagen hair 9.9 KRAS HRAS
47 ascending colon cancer 9.9 KRAS HRAS
48 biliary tract benign neoplasm 9.9 KRAS HRAS
49 ovarian mucinous neoplasm 9.9 KRAS HRAS
50 malignant exocrine pancreas neoplasm 9.9 KRAS HRAS

Graphical network of the top 20 diseases related to Periampullary Adenoma:



Diseases related to Periampullary Adenoma

Symptoms & Phenotypes for Periampullary Adenoma

GenomeRNAi Phenotypes related to Periampullary Adenoma according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.86 HRAS KRAS
2 Decreased viability GR00055-A-2 9.86 HRAS KRAS
3 Decreased viability GR00055-A-3 9.86 KRAS
4 Decreased viability GR00106-A-0 9.86 KRAS
5 Decreased viability GR00221-A-1 9.86 HRAS KRAS MAP3K6
6 Decreased viability GR00221-A-2 9.86 HRAS KRAS MAP3K6
7 Decreased viability GR00221-A-3 9.86 HRAS
8 Decreased viability GR00301-A 9.86 KRAS
9 Decreased viability GR00381-A-1 9.86 KRAS
10 Decreased viability GR00402-S-2 9.86 MAP3K6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 KRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.36 APC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.36 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.36 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.36 APC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.36 PMS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.36 APC
18 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 PMS2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.36 KRAS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.36 PMS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.36 KRAS

MGI Mouse Phenotypes related to Periampullary Adenoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 APC HRAS KRAS MAP3K6 MSH6
2 neoplasm MP:0002006 9.1 APC HRAS KRAS MAP3K6 MSH6 PMS2

Drugs & Therapeutics for Periampullary Adenoma

Search Clinical Trials , NIH Clinical Center for Periampullary Adenoma

Genetic Tests for Periampullary Adenoma

Anatomical Context for Periampullary Adenoma

Publications for Periampullary Adenoma

Articles related to Periampullary Adenoma:

(show all 15)
# Title Authors PMID Year
1
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect? 6
11553046 2001
2
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP). 6
8281160 1993
3
Management of endoscopic retrograde cholangiopancreatography-related perforations: Experience of a tertiary center. 61
28027817 2017
4
Total laparoscopic pancreaticoduodenectomy. 61
23925010 2013
5
Surgical treatment of familial adenomatous polyposis: experience from a single institution in China. 61
22897208 2012
6
Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis. 61
19946237 2009
7
Diagnostic and therapeutic endoscopic retrograde cholangiopancreatography in children: a large series report. 61
16205513 2005
8
[Adenomas of Vater's ampulla and of the duodenum. Presentation of diagnosis and therapy by endoscopic interventional and surgical methods]. 61
11963497 2002
9
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. 61
11677205 2001
10
Management of periampullary adenoma. 61
9892786 1998
11
Prophylactic pancreaticoduodenectomy for premalignant duodenal polyposis in familial adenomatous polyposis. 61
9548099 1998
12
Six hundred fifty consecutive pancreaticoduodenectomies in the 1990s: pathology, complications, and outcomes. 61
9339931 1997
13
Advanced gastroduodenal polyposis with ras mutations in a patient with familial adenomatous polyposis. 61
8387955 1993
14
Endoscopic evaluation and therapy of periampullary adenoma. 61
6837547 1983
15
Periampullary adenoma causing pancreatitis. 61
6790055 1981

Variations for Periampullary Adenoma

ClinVar genetic disease variations for Periampullary Adenoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) Microsatellite Pathogenic 811 rs387906234 GRCh37: 5:112175676-112175677
GRCh38: 5:112839979-112839980
2 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs) Microsatellite Pathogenic 812 rs387906234 GRCh37: 5:112175676-112175679
GRCh38: 5:112839979-112839982

Expression for Periampullary Adenoma

Search GEO for disease gene expression data for Periampullary Adenoma.

Pathways for Periampullary Adenoma

Pathways related to Periampullary Adenoma according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 MSH6 MAP3K6 KRAS HRAS
2 12.5 MAP3K6 KRAS HRAS
3
Show member pathways
12.5 KRAS HRAS APC
4
Show member pathways
12.45 KRAS HRAS APC
5
Show member pathways
12.42 MSH6 KRAS HRAS APC
6
Show member pathways
12.41 MSH6 KRAS HRAS
7
Show member pathways
12.39 MAP3K6 KRAS HRAS
8 12.37 KRAS HRAS APC
9 12.35 MSH6 KRAS HRAS APC
10 12.27 KRAS HRAS APC
11
Show member pathways
12.23 KRAS HRAS APC
12 11.85 MSH6 KRAS APC
13 11.74 KRAS HRAS APC
14 11.52 KRAS HRAS APC
15 11.51 KRAS HRAS
16 11.49 KRAS HRAS
17
Show member pathways
11.46 KRAS HRAS
18 11.45 KRAS HRAS
19 11.42 KRAS HRAS
20 11.39 KRAS HRAS
21 11.39 KRAS HRAS APC
22 11.29 KRAS HRAS
23 11.24 KRAS HRAS
24 11.18 KRAS HRAS APC
25 11.17 KRAS HRAS
26 11.09 KRAS HRAS
27 11.04 KRAS HRAS
28 11.02 PMS2 MSH6
29
Show member pathways
11.01 KRAS HRAS
30
Show member pathways
10.95 KRAS HRAS
31 10.89 KRAS HRAS
32 10.85 KRAS HRAS
33 10.8 KRAS HRAS
34 10.55 KRAS HRAS
35 10.28 KRAS HRAS APC

GO Terms for Periampullary Adenoma

Cellular components related to Periampullary Adenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatch repair complex GO:0032300 8.62 PMS2 MSH6

Biological processes related to Periampullary Adenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.54 MAP3K6 KRAS HRAS
2 positive regulation of MAP kinase activity GO:0043406 9.4 KRAS HRAS
3 mismatch repair GO:0006298 9.32 PMS2 MSH6
4 intrinsic apoptotic signaling pathway GO:0097193 9.26 MSH6 HRAS
5 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 KRAS HRAS
6 somatic hypermutation of immunoglobulin genes GO:0016446 8.96 PMS2 MSH6
7 response to isolation stress GO:0035900 8.62 KRAS HRAS

Molecular functions related to Periampullary Adenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mismatched DNA binding GO:0030983 8.62 PMS2 MSH6

Sources for Periampullary 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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