MCID: PRM190
MIFTS: 30

Periampullary Adenoma

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Periampullary Adenoma

MalaCards integrated aliases for Periampullary Adenoma:

Name: Periampullary Adenoma 12 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050849

Summaries for Periampullary Adenoma

MalaCards based summary : Periampullary Adenoma is related to adenoma and familial adenomatous polyposis. An important gene associated with Periampullary Adenoma is APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Regulation of actin cytoskeleton and MicroRNAs in cancer. Affiliated tissues include lung, liver and colon, and related phenotypes are behavior/neurological and neoplasm

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 74)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.4 APC KRAS SST
2 familial adenomatous polyposis 30.2 APC KRAS NTHL1
3 hyperplastic polyposis syndrome 10.1 APC KRAS
4 mutyh-associated polyposis 10.1 APC KRAS
5 mccune-albright syndrome 10.1 APC SST
6 fibrous dysplasia 10.1 APC SST
7 colon adenoma 10.1 APC KRAS
8 villous adenoma 10.1 KRAS SST
9 duodenal disease 10.1 KRAS SST
10 sigmoid neoplasm 10.0 HRAS KRAS
11 apocrine adenoma 10.0 HRAS KRAS
12 paronychia 10.0 HRAS KRAS
13 schimmelpenning-feuerstein-mims syndrome 10.0 HRAS KRAS
14 bile duct cysts 10.0 HRAS KRAS
15 aggressive digital papillary adenocarcinoma 10.0 HRAS KRAS
16 appendix disease 10.0 HRAS KRAS
17 lung adenoid cystic carcinoma 10.0 HRAS KRAS
18 nasal cavity adenocarcinoma 10.0 HRAS KRAS
19 secondary hypertrophic osteoarthropathy 10.0 HRAS KRAS
20 anal canal adenocarcinoma 10.0 HRAS KRAS
21 ovarian cystadenocarcinoma 10.0 HRAS KRAS
22 biliary papillomatosis 10.0 HRAS KRAS
23 acneiform dermatitis 10.0 HRAS KRAS
24 core binding factor acute myeloid leukemia 10.0 HRAS KRAS
25 biliary tract neoplasm 10.0 HRAS KRAS
26 mucinous lung adenocarcinoma 10.0 HRAS KRAS
27 liver angiosarcoma 10.0 HRAS KRAS
28 cecum adenocarcinoma 10.0 HRAS KRAS
29 adenosquamous lung carcinoma 10.0 HRAS KRAS
30 costello syndrome 10.0 HRAS KRAS
31 ampulla of vater cancer 10.0 HRAS KRAS
32 bile duct adenocarcinoma 10.0 HRAS KRAS
33 ovary adenocarcinoma 10.0 HRAS KRAS
34 exanthem 10.0 HRAS KRAS
35 pulmonic stenosis 10.0 HRAS KRAS
36 lung benign neoplasm 10.0 HRAS KRAS
37 pancreatitis 10.0
38 malignant ovarian surface epithelial-stromal neoplasm 10.0 HRAS KRAS
39 cyclosporiasis 10.0 GGT1 GGT2
40 algoneurodystrophy 10.0 GGT1 GGT2
41 ovary epithelial cancer 10.0 HRAS KRAS
42 hepatic tuberculosis 10.0 GGT1 GGT2
43 cardiofaciocutaneous syndrome 1 9.9 HRAS KRAS
44 autoimmune disease of urogenital tract 9.9 GGT1 GGT2
45 cholangiocarcinoma 9.9 APC GGT1 KRAS
46 nevus, epidermal 9.9 HRAS KRAS
47 vertebrobasilar insufficiency 9.9 GGT1 GGT2
48 adenocarcinoma 9.9 APC HRAS KRAS
49 intestinal benign neoplasm 9.9 APC HRAS KRAS
50 colorectal adenoma 9.9 APC HRAS KRAS

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



Diseases related to Periampullary Adenoma

Symptoms & Phenotypes for Periampullary Adenoma

MGI Mouse Phenotypes related to Periampullary Adenoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 APC GGT1 HRAS KRAS NTHL1 SST
2 neoplasm MP:0002006 9.26 APC HRAS KRAS NTHL1
3 skeleton MP:0005390 9.02 APC GGT1 HRAS KRAS SST

Drugs & Therapeutics for Periampullary Adenoma

Search Clinical Trials , NIH Clinical Center for Periampullary Adenoma

Genetic Tests for Periampullary Adenoma

Genetic tests related to Periampullary Adenoma:

# Genetic test Affiliating Genes
1 Periampullary Adenoma 29

Anatomical Context for Periampullary Adenoma

MalaCards organs/tissues related to Periampullary Adenoma:

41
Lung, Liver, Colon, Ovary, Pancreas, Thyroid, Small Intestine

Publications for Periampullary Adenoma

Articles related to Periampullary Adenoma:

# Title Authors Year
1
Magnified endoscopic observation using narrow-band imaging of periampullary adenoma in a patient with familial adenomatous polyposis. ( 19946237 )
2009
2
Management of periampullary adenoma. ( 9892786 )
1998
3
Endoscopic evaluation and therapy of periampullary adenoma. ( 6837547 )
1983
4
Periampullary adenoma causing pancreatitis. ( 6790055 )
1981

Variations for Periampullary Adenoma

ClinVar genetic disease variations for Periampullary Adenoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh37 Chromosome 5, 112175684: 112175685
2 APC NM_000038.5(APC): c.4393_4394delAG (p.Ser1465Trpfs) deletion Pathogenic rs387906234 GRCh38 Chromosome 5, 112839987: 112839988
3 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh37 Chromosome 5, 112175682: 112175685
4 APC NM_000038.5(APC): c.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh38 Chromosome 5, 112839985: 112839988

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 29)
# Super pathways Score Top Affiliating Genes
1 12.36 APC HRAS KRAS
2 12.24 APC HRAS KRAS
3
Show member pathways
12.22 APC HRAS KRAS
4
Show member pathways
12.15 APC HRAS KRAS
5 12.14 APC HRAS KRAS
6 11.69 APC HRAS KRAS
7 11.52 APC HRAS KRAS
8 11.46 HRAS KRAS
9 11.45 HRAS KRAS
10
Show member pathways
11.45 HRAS KRAS
11 11.41 HRAS KRAS
12 11.39 APC HRAS KRAS
13 11.38 HRAS KRAS
14 11.29 HRAS KRAS
15
Show member pathways
11.25 GGT1 GGT2
16 11.22 HRAS KRAS
17 11.21 HRAS KRAS NTHL1
18 11.18 APC HRAS KRAS
19 11.11 HRAS KRAS
20 11.02 HRAS KRAS
21
Show member pathways
11 HRAS KRAS
22
Show member pathways
10.94 HRAS KRAS
23 10.89 GGT1 GGT2
24 10.86 GGT1 GGT2
25 10.84 HRAS KRAS
26 10.8 HRAS KRAS
27 10.71 HRAS KRAS
28 10.44 HRAS KRAS
29 10.28 APC HRAS KRAS

GO Terms for Periampullary Adenoma

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.54 HRAS KRAS
2 positive regulation of MAP kinase activity GO:0043406 9.52 HRAS KRAS
3 cellular amino acid metabolic process GO:0006520 9.51 GGT1 GGT2
4 glutathione metabolic process GO:0006749 9.49 GGT1 GGT2
5 response to tumor necrosis factor GO:0034612 9.48 GGT1 GGT2
6 regulation of long-term neuronal synaptic plasticity GO:0048169 9.46 HRAS KRAS
7 glutamate metabolic process GO:0006536 9.43 GGT1 GGT2
8 zymogen activation GO:0031638 9.4 GGT1 GGT2
9 glutathione catabolic process GO:0006751 9.37 GGT1 GGT2
10 leukotriene D4 biosynthetic process GO:1901750 9.32 GGT1 GGT2
11 cysteine biosynthetic process GO:0019344 9.26 GGT1 GGT2
12 response to isolation stress GO:0035900 9.16 HRAS KRAS
13 regulation of immune system process GO:0002682 8.96 GGT1 GGT2
14 peptide modification GO:0031179 8.62 GGT1 GGT2

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 9.16 HRAS KRAS
2 glutathione hydrolase activity GO:0036374 8.96 GGT1 GGT2
3 peptidyltransferase activity GO:0000048 8.62 GGT1 GGT2

Sources for Periampullary Adenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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