MCID: APP013
MIFTS: 28

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 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0050911
UMLS 72 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 colon adenocarcinoma and lynch 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 Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with vaccinia virus (VACV) infection

Related Diseases for Appendix Carcinoid Tumor

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 colon adenocarcinoma 29.3 MSH6 MLH1
2 lynch syndrome 28.2 PMS2 MSH6 MSH2 MLH1
3 colorectal cancer 28.1 PMS2 MSH6 MSH2 MLH1
4 appendicitis 10.1
5 goblet cell carcinoid 10.1
6 spindle cell intraocular melanoma 10.1 PMS2 MLH1
7 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0
8 adenocarcinoma 10.0
9 carcinoid syndrome 10.0
10 colorectal cancer 5 10.0 MSH6 MLH1
11 gastric leiomyoma 9.9 MSH6 MLH1
12 adenoma 9.9 MSH2 MLH1
13 neurofibromatosis, type iv, of riccardi 9.8 PMS2 MSH6
14 colorectal cancer, hereditary nonpolyposis, type 7 9.8 MSH2 MLH1
15 lower lip cancer 9.8 MSH2 MLH1
16 hereditary breast ovarian cancer syndrome 9.8 MSH6 MLH1
17 anal fistula 9.8 MSH2 MLH1
18 melanocytic nevus syndrome, congenital 9.7 MSH2 MLH1
19 childhood kidney cell carcinoma 9.7 MSH2 MLH1
20 intestinal benign neoplasm 9.7 MSH2 MLH1
21 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
22 keratoacanthoma 9.7 MSH2 MLH1
23 familial colorectal cancer 9.7 MSH2 MLH1
24 colorectal adenoma 9.7 MSH2 MLH1
25 legius syndrome 9.6 MSH6 MSH2
26 gastrointestinal system disease 9.5 MSH2 MLH1
27 ulcerative colitis 9.5 MSH2 MLH1
28 colorectal cancer, hereditary nonpolyposis, type 4 9.4 PMS2 MSH2 MLH1
29 cecum adenocarcinoma 9.3 MSH6 MSH2 MLH1
30 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
31 colorectal cancer, hereditary nonpolyposis, type 5 9.2 MSH6 MSH2 MLH1
32 colorectal adenocarcinoma 9.2 MSH6 MSH2 MLH1
33 female reproductive system disease 9.2 MSH6 MSH2 MLH1
34 familial adenomatous polyposis 9.2 MSH6 MSH2 MLH1
35 adamantinoma of long bones 9.2 MSH2 MLH1
36 rhabdomyosarcoma 9.2 PMS2 MSH6 MSH2
37 brain cancer 9.2 PMS2 MSH6 MSH2
38 ovarian cancer 9.0 MSH6 MSH2 MLH1
39 adenosquamous colon carcinoma 8.8 PMS2 MSH6 MSH2 MLH1
40 sebaceous adenoma 8.8 PMS2 MSH6 MSH2 MLH1
41 lynch syndrome i 8.8 PMS2 MSH6 MSH2 MLH1
42 sebaceous adenocarcinoma 8.8 PMS2 MSH6 MSH2 MLH1
43 muir-torre syndrome 8.8 PMS2 MSH6 MSH2 MLH1
44 small intestine cancer 8.8 PMS2 MSH6 MSH2 MLH1
45 mismatch repair cancer syndrome 8.8 PMS2 MSH6 MSH2 MLH1
46 uterine anomalies 8.8 PMS2 MSH6 MSH2 MLH1
47 colonic disease 8.8 PMS2 MSH6 MSH2 MLH1
48 autosomal genetic disease 8.8 PMS2 MSH6 MSH2 MLH1
49 intestinal disease 8.8 PMS2 MSH6 MSH2 MLH1
50 gastrointestinal system cancer 8.8 PMS2 MSH6 MSH2 MLH1

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.26 MLH1 MSH2 MSH6 PMS2
2 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 hematopoietic system MP:0005397 9.46 MLH1 MSH2 MSH6 PMS2
2 immune system MP:0005387 9.26 MLH1 MSH2 MSH6 PMS2
3 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 PMID Year
1
Co-existence of idiopathic cecal ulcer and incidental appendix carcinoid tumor. 38
28149127 2016
2
Ureteric obstruction: A unique case. 38
22557728 2012
3
Natural behaviour and surgical treatment of appendiceal carcinoids: an analysis of 2,376 consecutive emergency appendectomies. 38
22180987 2011
4
[The carcinoid tumor of appendix]. 38
20919434 2010
5
A rare case of coexistence of carcinoid tumor of appendix vermicularis and ileal endometriosis. 38
18470525 2009
6
[Diagnosis, treatment, and prognosis of primary appendiceal tumors: analysis of 37 cases]. 38
19040005 2008
7
An appendix carcinoid tumor in a patient with hereditary nonpolyposis colorectal cancer. 38
15619218 2004
8
[Clinical featares and treatment principles of appendix carcinoid tumor: a report of 13 cases]. 38
15566684 2004
9
[Pregnancy and birth in appendix carcinoid tumor with familial disposition]. 38
4691250 1973
10
Acute appendicitis associated with obstructing carcinoid tumor of appendix. A case report. 38
13805062 1960

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 PMS2 MSH6 MSH2 MLH1
2
Show member pathways
12.55 PMS2 MSH2 MLH1
3
Show member pathways
12.49 MSH6 MSH2 MLH1
4
Show member pathways
12.45 MSH6 MSH2 MLH1
5 12.41 MSH6 MSH2 MLH1
6 12.08 MSH6 MSH2 MLH1
7 11.76 MSH6 MSH2
8 11.72 MSH6 MSH2 MLH1
9 11.55 PMS2 MSH2 MLH1
10 11.54 PMS2 MLH1
11
Show member pathways
11.47 MSH6 MSH2
12
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
13 11.2 MSH6 MSH2 MLH1
14 11.16 MSH6 MSH2
15 11.15 MSH6 MSH2 MLH1
16
Show member pathways
11.12 MSH2 MLH1
17
Show member pathways
11.06 MSH2 MLH1
18 10.39 PMS2 MSH6 MSH2 MLH1

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 PMS2 MSH6 MSH2 MLH1
2 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.71 PMS2 MSH6 MSH2 MLH1
3 negative regulation of DNA recombination GO:0045910 9.56 MSH6 MSH2
4 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MSH2 MLH1
6 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 MSH6 MSH2 MLH1
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
9 maintenance of DNA repeat elements GO:0043570 9.48 MSH6 MSH2
10 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
11 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MSH2 MLH1
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
13 interstrand cross-link repair GO:0036297 9.27 MSH6
14 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
15 pyrimidine dimer repair GO:0006290 9.21 MSH6
16 meiotic mismatch repair GO:0000710 9.16 MSH6
17 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

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 9.8 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.72 MSH6 MSH2 MLH1
3 enzyme binding GO:0019899 9.69 MSH6 MSH2 MLH1
4 double-stranded DNA binding GO:0003690 9.57 MSH6 MSH2
5 damaged DNA binding GO:0003684 9.56 MSH6 MSH2
6 DNA-dependent ATPase activity GO:0008094 9.54 MSH6 MSH2
7 single-stranded DNA binding GO:0003697 9.54 PMS2 MSH2 MLH1
8 ADP binding GO:0043531 9.52 MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
10 oxidized purine DNA binding GO:0032357 9.46 MSH6 MSH2
11 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
12 MutSalpha complex binding GO:0032407 9.43 PMS2 MLH1
13 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
14 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
15 single guanine insertion binding GO:0032142 9.26 MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
17 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Appendix Carcinoid Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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