MCID: PRM190
MIFTS: 26

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. 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 71)
# Related Disease Score Top Affiliating Genes
1 adenoma 30.1 APC KRAS SST
2 familial adenomatous polyposis 29.9 APC KRAS NTHL1
3 adenocarcinoma 29.2 APC HRAS KRAS
4 hyperplastic polyposis syndrome 10.4 APC KRAS
5 mutyh-associated polyposis 10.4 APC KRAS
6 villous adenoma 10.3 KRAS SST
7 colon adenoma 10.2 APC KRAS
8 sigmoid neoplasm 10.1 HRAS KRAS
9 mccune-albright syndrome 10.1 APC SST
10 apocrine adenoma 10.1 HRAS KRAS
11 schimmelpenning-feuerstein-mims syndrome 10.1 HRAS KRAS
12 paronychia 10.1 HRAS KRAS
13 bile duct cysts 10.1 HRAS KRAS
14 aggressive digital papillary adenocarcinoma 10.1 HRAS KRAS
15 secondary hypertrophic osteoarthropathy 10.1 HRAS KRAS
16 nasal cavity adenocarcinoma 10.1 HRAS KRAS
17 anal canal adenocarcinoma 10.1 HRAS KRAS
18 ovary serous adenocarcinoma 10.1 HRAS KRAS
19 fibrous dysplasia 10.1 APC SST
20 ovarian cystadenocarcinoma 10.1 HRAS KRAS
21 lung adenoid cystic carcinoma 10.1 HRAS KRAS
22 nevus, epidermal 10.1 HRAS KRAS
23 biliary papillomatosis 10.1 HRAS KRAS
24 acneiform dermatitis 10.1 HRAS KRAS
25 mixed cell type cancer 10.1 HRAS KRAS
26 ovary adenocarcinoma 10.1 HRAS KRAS
27 adenosquamous cell lung carcinoma 10.1 HRAS KRAS
28 adenosquamous pancreas carcinoma 10.0 HRAS KRAS
29 core binding factor acute myeloid leukemia 10.0 HRAS KRAS
30 biliary tract neoplasm 10.0 HRAS KRAS
31 liver angiosarcoma 10.0 HRAS KRAS
32 lacrimal gland adenocarcinoma 10.0 HRAS KRAS
33 cecum adenocarcinoma 10.0 HRAS KRAS
34 pulmonic stenosis 10.0 HRAS KRAS
35 costello syndrome 10.0 HRAS KRAS
36 bile duct adenocarcinoma 10.0 HRAS KRAS
37 gastrointestinal system benign neoplasm 9.9 HRAS KRAS
38 skin squamous cell carcinoma 9.9 HRAS KRAS
39 exanthem 9.9 HRAS KRAS
40 cyclosporiasis 9.9 GGT1 GGT2
41 algoneurodystrophy 9.9 GGT1 GGT2
42 lung benign neoplasm 9.9 HRAS KRAS
43 hepatic tuberculosis 9.9 GGT1 GGT2
44 small intestine cancer 9.9 KRAS NTHL1 SST
45 pancreatitis 9.8
46 ovarian cancer 1 9.8 HRAS KRAS
47 malignant ovarian surface epithelial-stromal neoplasm 9.8 HRAS KRAS
48 ovary epithelial cancer 9.8 HRAS KRAS
49 granulomatous hepatitis 9.7 GGT1 GGT2
50 intestinal benign neoplasm 9.7 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 GGT1 HRAS KRAS NTHL1 SST APC
2 neoplasm MP:0002006 9.26 HRAS KRAS NTHL1 APC
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

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
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. ( 11677205 )
2001
3
Management of periampullary adenoma. ( 9892786 )
1998
4
Endoscopic evaluation and therapy of periampullary adenoma. ( 6837547 )
1983
5
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 24)
# Super pathways Score Top Affiliating Genes
1 12.34 APC HRAS KRAS
2 12.23 APC HRAS KRAS
3
Show member pathways
12.21 APC HRAS KRAS
4 12.13 APC HRAS KRAS
5 11.69 APC HRAS KRAS
6 11.52 APC HRAS KRAS
7 11.4 HRAS KRAS
8 11.39 APC HRAS KRAS
9 11.36 HRAS KRAS
10 11.28 HRAS KRAS
11
Show member pathways
11.23 GGT1 GGT2
12 11.21 HRAS KRAS
13 11.18 APC HRAS KRAS
14 11.09 HRAS KRAS
15 11.01 HRAS KRAS
16
Show member pathways
10.99 HRAS KRAS
17
Show member pathways
10.93 HRAS KRAS
18 10.87 GGT1 GGT2
19 10.84 GGT1 GGT2
20 10.82 HRAS KRAS
21 10.78 HRAS KRAS
22 10.71 HRAS KRAS
23 10.44 HRAS KRAS
24 10.28 APC HRAS KRAS

GO Terms for Periampullary Adenoma

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAP kinase activity GO:0043406 9.43 HRAS KRAS
2 epidermal growth factor receptor signaling pathway GO:0007173 9.4 HRAS KRAS
3 ERBB2 signaling pathway GO:0038128 9.37 HRAS KRAS
4 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 HRAS KRAS
5 zymogen activation GO:0031638 9.26 GGT1 GGT2
6 glutathione catabolic process GO:0006751 9.16 GGT1 GGT2
7 leukotriene D4 biosynthetic process GO:1901750 8.96 GGT1 GGT2
8 response to isolation stress GO:0035900 8.62 HRAS KRAS

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.96 HRAS KRAS
2 glutathione hydrolase activity GO:0036374 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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