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 Endometrial cancer. 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 134)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.3 MSH6 KRAS APC
2 familial adenomatous polyposis 29.2 PMS2 MSH6 KRAS HRAS APC
3 adenocarcinoma 29.1 MSH6 KRAS HRAS APC
4 duodenal benign neoplasm 10.2 HRAS APC
5 attenuated familial adenomatous polyposis 10.2 MSH6 APC
6 extrahepatic bile duct adenoma 10.2 PMS2 MSH6
7 adenosquamous colon carcinoma 10.2 PMS2 MSH6
8 appendix carcinoid tumor 10.2 PMS2 MSH6
9 jejunal cancer 10.2 PMS2 MSH6
10 jejunal adenocarcinoma 10.1 PMS2 MSH6
11 colorectal cancer, hereditary nonpolyposis, type 6 10.1 PMS2 MSH6
12 sebaceous gland neoplasm 10.1 PMS2 MSH6
13 sebaceous adenoma 10.1 PMS2 MSH6
14 fallopian tube endometrioid adenocarcinoma 10.1 PMS2 MSH6
15 esophagus sarcoma 10.1 PMS2 MSH6
16 hyperplastic polyposis syndrome 10.1 KRAS APC
17 esophageal tuberculosis 10.1 PMS2 MSH6
18 b-lymphoblastic leukemia/lymphoma 10.1 MSH6 APC
19 dysplastic nevus syndrome 10.1 PMS2 MSH6
20 sebaceous adenocarcinoma 10.1 PMS2 MSH6
21 signet ring basal cell carcinoma 10.1 KRAS HRAS
22 trachea carcinoma in situ 10.1 KRAS HRAS
23 cobblestone retinal degeneration 10.1 KRAS HRAS
24 nasal cavity adenocarcinoma 10.0 KRAS HRAS
25 legius syndrome 10.0 MSH6 HRAS
26 descending colon cancer 10.0 KRAS HRAS
27 hereditary mixed polyposis syndrome 10.0 PMS2 MSH6
28 adenosquamous lung carcinoma 10.0 KRAS HRAS
29 acneiform dermatitis 10.0 KRAS HRAS
30 appendiceal neoplasm 10.0 KRAS HRAS
31 gallbladder benign neoplasm 10.0 KRAS HRAS
32 appendix adenocarcinoma 10.0 KRAS HRAS
33 mucinous lung adenocarcinoma 10.0 KRAS HRAS
34 wolffian duct adenocarcinoma 10.0 KRAS HRAS
35 muir-torre syndrome 10.0 PMS2 MSH6
36 ascending colon cancer 10.0 KRAS HRAS
37 biliary tract benign neoplasm 10.0 KRAS HRAS
38 tumor of exocrine pancreas 10.0 KRAS HRAS
39 pancreatic acinar cell adenocarcinoma 10.0 KRAS HRAS
40 endosalpingiosis 10.0 KRAS HRAS
41 core binding factor acute myeloid leukemia 10.0 KRAS HRAS
42 lung carcinoma in situ 10.0 KRAS HRAS
43 appendix disease 10.0 KRAS HRAS
44 paronychia 10.0 KRAS HRAS
45 pulmonary adenocarcinoma in situ 10.0 KRAS HRAS
46 adenocarcinoma in situ 10.0 KRAS HRAS
47 bile duct cysts 10.0 KRAS HRAS
48 papillary adenoma 10.0 KRAS HRAS
49 appendix cancer 10.0 KRAS HRAS
50 large intestine adenocarcinoma 10.0 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 9.83 HRAS KRAS MEMO1
2 Decreased viability GR00055-A-2 9.83 HRAS KRAS MEMO1
3 Decreased viability GR00055-A-3 9.83 KRAS
4 Decreased viability GR00106-A-0 9.83 KRAS
5 Decreased viability GR00221-A-1 9.83 HRAS KRAS
6 Decreased viability GR00221-A-2 9.83 HRAS KRAS
7 Decreased viability GR00221-A-3 9.83 HRAS
8 Decreased viability GR00301-A 9.83 KRAS
9 Decreased viability GR00381-A-1 9.83 KRAS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 KRAS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.36 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.36 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.36 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.36 APC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.36 PMS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.36 APC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 PMS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.36 KRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.36 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.36 KRAS
21 Decreased cell migration GR00055-A-3 9.16 HRAS MEMO1

MGI Mouse Phenotypes related to Periampullary Adenoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 APC HRAS KRAS MAP3K6 MEMO1 MSH6
2 integument MP:0010771 9.43 APC HRAS KRAS MAP3K6 MEMO1 MSH6
3 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 GRCh37 Pos GRCh38 Pos
1 APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs)short repeat Pathogenic 811 rs387906234 5:112175676-112175677 5:112839979-112839980
2 APC NM_000038.6(APC):c.4385_4386AG[3] (p.Glu1464fs)short repeat Pathogenic 812 rs387906234 5:112175676-112175679 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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 MSH6 MAP3K6 KRAS HRAS
2
Show member pathways
12.48 MSH6 KRAS HRAS APC
3
Show member pathways
12.4 MAP3K6 KRAS HRAS
4 12.39 MSH6 KRAS HRAS APC
5 12.37 KRAS HRAS APC
6 12.27 KRAS HRAS APC
7
Show member pathways
12.24 KRAS HRAS APC
8
Show member pathways
12.03 MEMO1 KRAS HRAS
9 11.85 MSH6 KRAS APC
10 11.74 KRAS HRAS APC
11 11.52 KRAS HRAS APC
12 11.42 KRAS HRAS
13 11.39 KRAS HRAS
14 11.39 KRAS HRAS APC
15 11.3 KRAS HRAS
16 11.24 KRAS HRAS
17 11.18 KRAS HRAS APC
18 11.17 KRAS HRAS
19 11.1 KRAS HRAS
20 11.05 KRAS HRAS
21 11.03 PMS2 MSH6
22
Show member pathways
11.02 KRAS HRAS
23
Show member pathways
10.96 KRAS HRAS
24 10.89 KRAS HRAS
25 10.85 KRAS HRAS
26 10.8 KRAS HRAS
27 10.44 KRAS HRAS
28 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 mismatch repair GO:0006298 9.37 PMS2 MSH6
2 intrinsic apoptotic signaling pathway GO:0097193 9.32 MSH6 HRAS
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS HRAS
4 somatic hypermutation of immunoglobulin genes GO:0016446 9.16 PMS2 MSH6
5 regulation of microtubule-based process GO:0032886 8.96 MEMO1 APC
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....