Appendix Carcinoid Tumor disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050911

UMLS ⁷² C0334298

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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

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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:

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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

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Drugs & Therapeutics for Appendix Carcinoid Tumor

Search Clinical Trials , NIH Clinical Center for Appendix Carcinoid Tumor

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Genetic Tests for Appendix Carcinoid Tumor

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Anatomical Context for Appendix Carcinoid Tumor

MalaCards organs/tissues related to Appendix Carcinoid Tumor:

⁴¹

Appendix

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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	Ince V...Karakas S	28149127	2016
2	Ureteric obstruction: A unique case. ³⁸	Ponnusamy K...Rajesh	22557728	2012
3	Natural behaviour and surgical treatment of appendiceal carcinoids: an analysis of 2,376 consecutive emergency appendectomies. ³⁸	Ozer MT...Uzar AI	22180987	2011
4	[The carcinoid tumor of appendix]. ³⁸	Guseinov AKh...Aliev IA	20919434	2010
5	A rare case of coexistence of carcinoid tumor of appendix vermicularis and ileal endometriosis. ³⁸	Azordegan N...Moghadasian MH	18470525	2009
6	[Diagnosis, treatment, and prognosis of primary appendiceal tumors: analysis of 37 cases]. ³⁸	You J...Qiu JF	19040005	2008
7	An appendix carcinoid tumor in a patient with hereditary nonpolyposis colorectal cancer. ³⁸	Miquel C...Praz F	15619218	2004
8	[Clinical featares and treatment principles of appendix carcinoid tumor: a report of 13 cases]. ³⁸	Zeng QA...Mo HS	15566684	2004
9	[Pregnancy and birth in appendix carcinoid tumor with familial disposition]. ³⁸	Methfessel HD...Methfessel G	4691250	1973
10	Acute appendicitis associated with obstructing carcinoid tumor of appendix. A case report. ³⁸	BROWN WT...PARRY NG	13805062	1960

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Genes for Appendix Carcinoid Tumor

Genes related to Appendix Carcinoid Tumor (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	14.88	DISEASES inferred ¹⁵
2	MSH6	MutS Homolog 6	Protein Coding	14.67	DISEASES inferred ¹⁵
3	MSH2	MutS Homolog 2	Protein Coding	14.36	DISEASES inferred ¹⁵
4	MLH1	MutL Homolog 1	Protein Coding	14.21	DISEASES inferred ¹⁵

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Variations for Appendix Carcinoid Tumor

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Expression for Appendix Carcinoid Tumor

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

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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	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.71	PMS2 MSH6 MSH2 MLH1
2	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.55	PMS2 MSH2 MLH1
3	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.49	MSH6 MSH2 MLH1
4	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.45	MSH6 MSH2 MLH1
5	Pathways in cancer ³⁷	12.41	MSH6 MSH2 MLH1
6	DNA Damage ⁴	12.08	MSH6 MSH2 MLH1
7	Integrated Breast Cancer Pathway ¹	11.76	MSH6 MSH2
8	Colorectal Cancer Metastasis ⁶⁴	11.72	MSH6 MSH2 MLH1
9	Direct p53 effectors ¹	11.55	PMS2 MSH2 MLH1
10	Fanconi anemia pathway ⁶⁶ ³⁷	11.54	PMS2 MLH1
11	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.47	MSH6 MSH2
12	Mismatch repair ¹ ³⁷ ⁶⁶ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁶ Mismatch Repair in Eukaryotes ⁶⁴	11.23	PMS2 MSH6 MSH2 MLH1
13	Platinum drug resistance ³⁷	11.2	MSH6 MSH2 MLH1
14	Integrated Cancer Pathway ¹	11.16	MSH6 MSH2
15	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.15	MSH6 MSH2 MLH1
16	Busulfan Pathway, Pharmacodynamics ⁶¹ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁶	11.12	MSH2 MLH1
17	Doxorubicin Pathway, Pharmacokinetics ⁶¹ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶¹	11.06	MSH2 MLH1
18	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.39	PMS2 MSH6 MSH2 MLH1

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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

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