MCID: PRM190
MIFTS: 28

Periampullary Adenoma

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Periampullary Adenoma

MalaCards integrated aliases for Periampullary Adenoma:

Name: Periampullary Adenoma 12 29 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0050849

Summaries for Periampullary Adenoma

MalaCards based summary : Periampullary Adenoma is related to coloboma of inferior eyelid and microphthalmia/anophthalmia/coloboma spectrum. 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 68)
id Related Disease Score Top Affiliating Genes
1 coloboma of inferior eyelid 10.4 APC KRAS
2 microphthalmia/anophthalmia/coloboma spectrum 10.4 APC KRAS
3 liver lymphoma 10.3 KRAS SST
4 hereditary nephrotic syndromes, autosomal dominant 10.3 APC KRAS
5 fibroma 10.3 KRAS SST
6 large intestine adenoma 10.2 APC KRAS
7 optic papillitis 10.2 KRAS SST
8 malignant skin fibrous histiocytoma 10.2 HRAS KRAS
9 severe pre-eclampsia 10.2 HRAS KRAS
10 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 10.2 HRAS KRAS
11 gastric papillary adenocarcinoma 10.1 HRAS KRAS
12 worth's syndrome 10.1 APC SST
13 adenocarcinoma in situ 10.1 HRAS KRAS
14 seminal vesicle chronic gonorrhea 10.1 HRAS KRAS
15 breast adenoid cystic carcinoma 10.1 HRAS KRAS
16 spindle epithelial tumor with thymus-like differentiation tumor 10.1 HRAS KRAS
17 rheumatic pulmonary valve disease 10.1 HRAS KRAS
18 appendix adenocarcinoma 10.1 HRAS KRAS
19 diffuse pulmonary fibrosis 10.1 HRAS KRAS
20 uterine corpus adenofibroma 10.1 HRAS KRAS
21 extramedullary plasmacytoma 10.1 HRAS KRAS
22 adenoma 10.1
23 occupational dermatitis 10.1 HRAS KRAS
24 radioulnar synostosis 10.1 HRAS KRAS
25 hypersensitivity reaction type iii disease 10.1 HRAS KRAS
26 advanced sleep phase syndrome 10.1 HRAS KRAS
27 gorham's disease 10.1 HRAS KRAS
28 dyserythropoietic anemia and thrombocytopenia 10.1 HRAS KRAS
29 ossifying fibromyxoid tumor 10.1 HRAS KRAS
30 anuria 10.1 HRAS KRAS
31 growth restriction, severe, with distinctive facies 10.0 HRAS KRAS
32 peritoneal serous adenocarcinoma 10.0 HRAS KRAS
33 gastrointestinal neuroendocrine tumor 10.0 HRAS KRAS
34 tolosa-hunt syndrome 10.0 GGT1 GGT2
35 wolffian duct adenoma 10.0 HRAS KRAS
36 malignant visceral pleura tumor 10.0 GGT1 GGT2
37 early congenital syphilis 10.0 HRAS KRAS
38 childhood optic nerve glioma 9.9 APC KRAS SST
39 pancreatic cystadenocarcinoma 9.9 GGT1 GGT2
40 dental caries 9.9 HRAS KRAS
41 nasal cavity disease 9.9 HRAS KRAS
42 familial adenomatous polyposis 9.9
43 olfactory neuroblastoma 9.9 HRAS KRAS
44 hypertrophic elongation of cervix 9.8 GGT1 GGT2
45 lobomycosis 9.8 GGT1 GGT2
46 maxillary neoplasm 9.8 APC HRAS KRAS
47 macrocytic anemia 9.8 APC HRAS KRAS
48 diencephalic astrocytomas 9.8 APC HRAS KRAS
49 adenocarcinoma 9.8
50 pancreatitis 9.8

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:

44
id 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 SST APC GGT1 HRAS KRAS

Drugs & Therapeutics for Periampullary Adenoma

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Dual Focus NBI and pCLE in FAP Related Duodenal Adenoma Completed NCT02162173
2 Periampullary Lesions Via ERCP in Assuit University Hospital Recruiting NCT03185390

Search NIH Clinical Center for Periampullary Adenoma

Genetic Tests for Periampullary Adenoma

Genetic tests related to Periampullary Adenoma:

id Genetic test Affiliating Genes
1 Periampullary Adenoma 29

Anatomical Context for Periampullary Adenoma

Publications for Periampullary Adenoma

Articles related to Periampullary Adenoma:

id 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
id 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.4391_4394delAGAG (p.Glu1464Valfs) deletion Pathogenic rs387906235 GRCh37 Chromosome 5, 112175682: 112175685

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)
id Super pathways Score Top Affiliating Genes
1 12.35 APC HRAS KRAS
2 12.24 APC HRAS KRAS
3
Show member pathways
12.22 APC HRAS KRAS
4 12.14 APC HRAS KRAS
5
Show member pathways
12.07 APC HRAS KRAS
6 11.69 APC HRAS KRAS
7 11.52 APC HRAS KRAS
8 11.4 HRAS KRAS
9 11.39 APC HRAS KRAS
10 11.35 HRAS KRAS
11 11.28 HRAS KRAS
12
Show member pathways
11.23 GGT1 GGT2
13 11.18 APC HRAS KRAS
14 11.1 HRAS KRAS
15 11.02 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:

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

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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