MCID: APP013
MIFTS: 29

Appendix Carcinoid Tumor

Categories: Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Appendix Carcinoid Tumor

MalaCards integrated aliases for Appendix Carcinoid Tumor:

Name: Appendix Carcinoid Tumor 12 15
Appendix Carcinoid Endocrine Tumour 12
Carcinoid Tumor of Appendix 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050911
UMLS 73 C0334298

Summaries for Appendix Carcinoid Tumor

Disease Ontology : 12 An appendix cancer that has material basis in neurodendocrine cells.

MalaCards based summary : Appendix Carcinoid Tumor, also known as appendix carcinoid endocrine tumour, is related to colorectal cancer and carcinoid syndrome. An important gene associated with Appendix Carcinoid Tumor is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include appendix, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Appendix Carcinoid Tumor

Diseases related to Appendix Carcinoid Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer 27.1 MLH1 MSH2 MSH6 PMS2
2 carcinoid syndrome 10.1
3 gastric leiomyoma 10.0 MLH1 MSH6
4 neurofibromatosis, type iv, of riccardi 9.8 MSH6 PMS2
5 skin melanoma 9.8 MLH1 PMS2
6 lower lip cancer 9.8 MLH1 MSH2
7 anal fistula 9.8 MLH1 MSH2
8 melanocytic nevus syndrome, congenital 9.7 MLH1 MSH2
9 childhood kidney cell carcinoma 9.7 MLH1 MSH2
10 small intestine cancer 9.7 MLH1 MSH2
11 keratoacanthoma 9.7 MLH1 MSH2
12 intestinal benign neoplasm 9.7 MLH1 MSH2
13 familial colorectal cancer 9.7 MLH1 MSH2
14 colorectal adenoma 9.6 MLH1 MSH2
15 attenuated familial adenomatous polyposis 9.6 MSH2 MSH6
16 hereditary breast ovarian cancer syndrome 9.6 MLH1 MSH2
17 legius syndrome 9.6 MSH2 MSH6
18 rectal neoplasm 9.6 MLH1 MSH2
19 ulcerative colitis 9.5 MLH1 MSH2
20 colitis 9.3 MLH1 MSH2
21 adamantinoma of long bones 9.2 MLH1 MSH2
22 cecum adenocarcinoma 9.1 MLH1 MSH2 MSH6
23 skin benign neoplasm 9.1 MLH1 MSH2 MSH6
24 colorectal adenocarcinoma 9.1 MLH1 MSH2 MSH6
25 familial adenomatous polyposis 9.0 MLH1 MSH2 MSH6
26 rhabdomyosarcoma 9.0 MSH2 MSH6 PMS2
27 adenoma 9.0 MLH1 MSH2
28 ovarian cancer 8.7 MLH1 MSH2 MSH6
29 adenosquamous colon carcinoma 8.5 MLH1 MSH2 MSH6 PMS2
30 sebaceous adenoma 8.5 MLH1 MSH2 MSH6 PMS2
31 lynch syndrome i 8.5 MLH1 MSH2 MSH6 PMS2
32 sebaceous adenocarcinoma 8.5 MLH1 MSH2 MSH6 PMS2
33 muir-torre syndrome 8.5 MLH1 MSH2 MSH6 PMS2
34 mismatch repair cancer syndrome 8.5 MLH1 MSH2 MSH6 PMS2
35 female reproductive organ cancer 8.5 MLH1 MSH2 MSH6 PMS2
36 autosomal genetic disease 8.5 MLH1 MSH2 MSH6 PMS2
37 autosomal dominant disease 8.5 MLH1 MSH2 MSH6 PMS2
38 gastrointestinal system cancer 8.5 MLH1 MSH2 MSH6 PMS2
39 lynch syndrome 8.4 MLH1 MSH2 MSH6 PMS2
40 endometrial cancer 8.4 MLH1 MSH2 MSH6 PMS2

Graphical network of the top 20 diseases related to Appendix Carcinoid Tumor:



Diseases related to Appendix Carcinoid Tumor

Symptoms & Phenotypes for Appendix Carcinoid Tumor

GenomeRNAi Phenotypes related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.81 PMS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.81 PMS2 MSH2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.81 PMS2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.81 PMS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.81 PMS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.81 MSH2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.81 PMS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.81 PMS2
9 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.26 MLH1 MSH2 MSH6 PMS2
10 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 MLH1 MSH6 PMS2

MGI Mouse Phenotypes related to Appendix Carcinoid Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 MLH1 MSH2 MSH6 PMS2

Drugs & Therapeutics for Appendix Carcinoid Tumor

Search Clinical Trials , NIH Clinical Center for Appendix Carcinoid Tumor

Genetic Tests for Appendix Carcinoid Tumor

Anatomical Context for Appendix Carcinoid Tumor

MalaCards organs/tissues related to Appendix Carcinoid Tumor:

41
Appendix

Publications for Appendix Carcinoid Tumor

Articles related to Appendix Carcinoid Tumor:

# Title Authors Year
1
Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor. ( 28149127 )
2016
2
An appendix carcinoid tumor in a patient with hereditary nonpolyposis colorectal cancer. ( 15619218 )
2004

Variations for Appendix Carcinoid Tumor

Expression for Appendix Carcinoid Tumor

Search GEO for disease gene expression data for Appendix Carcinoid Tumor.

Pathways for Appendix Carcinoid Tumor

Pathways related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 MLH1 MSH2 MSH6 PMS2
2
Show member pathways
12.54 MLH1 MSH2 PMS2
3
Show member pathways
12.48 MLH1 MSH2 MSH6
4
Show member pathways
12.43 MLH1 MSH2 MSH6
5 12.39 MLH1 MSH2 MSH6
6 12.05 MLH1 MSH2 MSH6
7 11.75 MSH2 MSH6
8 11.72 MLH1 MSH2 MSH6
9 11.55 MLH1 MSH2 PMS2
10 11.53 MLH1 PMS2
11
Show member pathways
11.46 MSH2 MSH6
12
Show member pathways
11.25 MLH1 MSH2 MSH6 PMS2
13 11.2 MLH1 MSH2 MSH6
14 11.14 MSH2 MSH6
15
Show member pathways
11.1 MLH1 MSH2
16
Show member pathways
11.03 MLH1 MSH2
17 10.39 MLH1 MSH2 MSH6 PMS2

GO Terms for Appendix Carcinoid Tumor

Cellular components related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.56 MLH1 MSH2 MSH6 PMS2
2 MutLalpha complex GO:0032389 9.16 MLH1 PMS2
3 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
4 mismatch repair complex GO:0032300 8.92 MLH1 MSH2 MSH6 PMS2

Biological processes related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 MLH1 MSH2 MSH6 PMS2
2 DNA repair GO:0006281 9.71 MLH1 MSH2 MSH6 PMS2
3 determination of adult lifespan GO:0008340 9.55 MSH2 MSH6
4 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MLH1 MSH2
5 positive regulation of helicase activity GO:0051096 9.52 MSH2 MSH6
6 negative regulation of DNA recombination GO:0045910 9.51 MSH2 MSH6
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 MLH1 MSH2 MSH6
8 maintenance of DNA repeat elements GO:0043570 9.49 MSH2 MSH6
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MLH1 MSH2
10 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
11 isotype switching GO:0045190 9.43 MLH1 MSH2 MSH6
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MLH1 MSH2
13 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
14 mismatch repair GO:0006298 9.26 MLH1 MSH2 MSH6 PMS2
15 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 MLH1 MSH2 MSH6 PMS2

Molecular functions related to Appendix Carcinoid Tumor according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.83 MLH1 MSH2 MSH6 PMS2
2 single-stranded DNA binding GO:0003697 9.61 MLH1 MSH2 PMS2
3 magnesium ion binding GO:0000287 9.57 MSH2 MSH6
4 double-stranded DNA binding GO:0003690 9.56 MSH2 MSH6
5 ATPase activity GO:0016887 9.56 MLH1 MSH2 MSH6 PMS2
6 damaged DNA binding GO:0003684 9.55 MSH2 MSH6
7 DNA-dependent ATPase activity GO:0008094 9.54 MSH2 MSH6
8 ADP binding GO:0043531 9.51 MSH2 MSH6
9 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
10 oxidized purine DNA binding GO:0032357 9.48 MSH2 MSH6
11 MutLalpha complex binding GO:0032405 9.46 MSH2 MSH6
12 MutSalpha complex binding GO:0032407 9.4 MLH1 PMS2
13 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
14 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
15 single thymine insertion binding GO:0032143 9.32 MSH2 MSH6
16 single base insertion or deletion binding GO:0032138 9.13 MSH2 MSH6 PMS2
17 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2

Sources for Appendix Carcinoid Tumor

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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