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MCID: APP009
MIFTS: 30

Appendix Adenocarcinoma

Categories: Rare diseases, Cancer diseases, Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Appendix Adenocarcinoma

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MalaCards integrated aliases for Appendix Adenocarcinoma:

Name: Appendix Adenocarcinoma 12 15
Adenocarcinoma of Appendix 12 73
Mucinous Adenocarcinoma 53 73
Cystadenocarcinoma 53 73
Adenocarcinoma of the Appendix 53
Colonic Type Adenocarcinoma 53
Appendiceal Adenocarcinoma 12
Nonmucinous Adenocarcinoma 53

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3608
NCIt 50 C7718
SNOMED-CT 68 413445002
UMLS 73 C0238003
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Summaries for Appendix Adenocarcinoma

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NIH Rare Diseases : 53 Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkin’s lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly “mucinous epithelial neoplasms”, also called adenomas, cystadenoma, and benign neoplastic mucocele.Adenocarcinoma of the appendix is a epithelial cancer of the appendix. The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions. Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of the appendix (which is the rarest, involving only 4% of all the subtypes of appendix cancer).

MalaCards based summary : Appendix Adenocarcinoma, also known as adenocarcinoma of appendix, is related to mucinous cystadenocarcinoma and bile duct cystadenocarcinoma. An important gene associated with Appendix Adenocarcinoma is CDX2 (Caudal Type Homeobox 2). The drugs Bevacizumab and Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include appendix and colon.

Disease Ontology : 12 An appendix carcinoma that derives from epithelial cells of glandular origin.

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Related Diseases for Appendix Adenocarcinoma

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

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 mucinous cystadenocarcinoma 33.2 KRT20 KRT7
2 bile duct cystadenocarcinoma 32.8 KRT20 KRT7
3 mucinous adenocarcinoma 32.3 CDX2 KRT20 KRT7
4 ovarian mucinous adenocarcinoma 32.2 CDX2 KRT20 KRT7
5 papillary serous adenocarcinoma 30.9 KRT20 KRT7
6 cystadenoma 30.1 KRT20 KRT7
7 pseudomyxoma peritonei 29.2 CDX2 KRT20 KRT7
8 cystadenocarcinoma 12.4
9 serous cystadenocarcinoma 12.4
10 mucinous adenocarcinoma of the appendix 12.3
11 papillary cystadenocarcinoma 12.3
12 colon mucinous adenocarcinoma 12.2
13 endometrial mucinous adenocarcinoma 12.2
14 mucinous adenocarcinoma of ovary 12.2
15 lung mucinous cystadenocarcinoma 12.1
16 ovarian mucinous cystadenocarcinoma 12.1
17 ovarian cystadenocarcinoma 12.1
18 ovarian serous cystadenocarcinoma 12.1
19 pancreatic serous cystadenocarcinoma 12.0
20 pancreatic cystadenocarcinoma 12.0
21 acinar cell cystadenocarcinoma 12.0
22 mucinous cystadenocarcinoma of the pancreas 12.0
23 bladder colonic type adenocarcinoma 12.0
24 appendix mucinous cystadenocarcinoma 11.9
25 breast mucinous cystadenocarcinoma 11.8
26 pancreatic non-invasive mucinous cystadenocarcinoma 11.8
27 ovarian clear cell cystadenocarcinoma 11.8
28 pancreatic colloid cystadenocarcinoma 11.8
29 pancreatic invasive mucinous cystadenocarcinoma 11.8
30 multilocular clear cell renal cell carcinoma 11.4
31 multilocular cystic renal neoplasm of low malignant potential 10.8
32 pancreatitis 10.4
33 hepatitis 10.2
34 peritonitis 10.2
35 villous adenoma 10.2 CDX2 KRT20
36 gelatinous ascites 10.2
37 tubular adenocarcinoma 10.1 CDX2 KRT20
38 ovary neuroendocrine neoplasm 10.0 CDX2 KRT7
39 mucinous adenofibroma 10.0 CDX2 KRT7
40 anus adenocarcinoma 10.0 CDX2 KRT7
41 epithelial predominant wilms' tumor 10.0 CDX2 KRT7
42 bronchiolo-alveolar adenocarcinoma 10.0 CDX2 KRT7
43 nasal cavity adenocarcinoma 10.0 CDX2 KRT7
44 adenocarcinoma 10.0
45 mucinous ovarian cystadenoma 10.0 CDX2 KRT7
46 anal canal adenocarcinoma 10.0 CDX2 KRT7
47 biliary tract neoplasm 9.9 CDX2 KRT7
48 duodenum cancer 9.9 CDX2 KRT7
49 hidradenocarcinoma 9.9 CDX2 KRT7
50 anus cancer 9.9 CDX2 KRT7

Graphical network of the top 20 diseases related to Appendix Adenocarcinoma:



Diseases related to Appendix Adenocarcinoma
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Symptoms & Phenotypes for Appendix Adenocarcinoma

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Drugs & Therapeutics for Appendix Adenocarcinoma

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Drugs for Appendix Adenocarcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Oxaliplatin Approved, Investigational Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
3 Antibodies Phase 2
4 Antibodies, Monoclonal Phase 2
5 Immunoglobulins Phase 2
6 Angiogenesis Inhibitors Phase 2
7 Angiogenesis Modulating Agents Phase 2
8
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
9
Fluorouracil Approved Phase 1 51-21-8 3385
10
Pembrolizumab Approved Phase 1 1374853-91-4
11
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
12
Capecitabine Approved, Investigational 154361-50-9 60953
13 Antimetabolites
14 Antimetabolites, Antineoplastic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cobimetinib and Atezolizumab in Advanced Rare Tumors Recruiting NCT03108131 Phase 2 Cobimetinib;Atezolizumab
2 Atezolizumab and Bevacizumab in Rare Solid Tumors Recruiting NCT03074513 Phase 2 Atezolizumab;Bevacizumab
3 Perioperative Chemotherapy With Bevacizumab for Colorectal Carcinomatosis - French Part of the Main Bev-IP Study Not yet recruiting NCT03161041 Phase 2 bevacizumab and HIPEC (Oxaliplatin 360 mg/m2).
4 Phase I Study MK-3475 With Chemotherapy in Patients With Advanced GI Cancers Active, not recruiting NCT02268825 Phase 1 MK-3475
5 Crossover Trial of Systemic Chemotherapy in Patients With Metastatic Well-Differentiated Mucinous Appendiceal Adenocarcinomas With Pseudomyxoma Peritonei Recruiting NCT01946854 Not Applicable
6 Postoperative Chemotherapy in High-Grade Appendiceal Adenocarcinoma With Peritoneal Carcinomatosis Active, not recruiting NCT02420509 systemic chemotherapy

Search NIH Clinical Center for Appendix Adenocarcinoma

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Genetic Tests for Appendix Adenocarcinoma

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Anatomical Context for Appendix Adenocarcinoma

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MalaCards organs/tissues related to Appendix Adenocarcinoma:

41
Appendix, Colon
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Publications for Appendix Adenocarcinoma

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Articles related to Appendix Adenocarcinoma:

# Title Authors Year
1
Predicting Survival After Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy for Appendix Adenocarcinoma. ( 29771808 )
2018
2
Appendix adenocarcinoma in an elderly patient from a nursing home. ( 27436927 )
2016
3
Adenocarcinoma of appendix presenting as flank fistula. ( 24426725 )
2013
4
Primary mucinous adenocarcinoma of appendix treated with chemotherapy and radiotherapy: a case report. ( 18822701 )
2008
5
Appendix adenocarcinoma associated with ulcerative colitis: a case report and literature review. ( 16528481 )
2006
6
Enterovesical fistula secondary to mucinous adenocarcinoma of appendix. ( 3041057 )
1987
Sources

Variations for Appendix Adenocarcinoma

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Cosmic variations for Appendix Adenocarcinoma:

9
(show top 50) (show all 361)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6938356 ZFHX3 large intestine,appendix,carcinoma,adenocarcinoma c.3122A>C p.K1041T 16:72950563-72950563 22
2 COSM6933903 XIAP large intestine,appendix,carcinoma,adenocarcinoma c.591A>T p.Q197H 23:123886253-123886253 22
3 COSM6976113 WT1 large intestine,appendix,carcinoma,adenocarcinoma c.463G>A p.D155N 11:32428599-32428599 22
4 COSM10648 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.524G>A p.R175H 17:7675088-7675088 22
5 COSM11183 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.799C>T p.R267W 17:7673821-7673821 22
6 COSM44944 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.451C>G p.P151A 17:7675161-7675161 22
7 COSM10883 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.731G>A p.G244D 17:7674232-7674232 22
8 COSM10704 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.844C>T p.R282W 17:7673776-7673776 22
9 COSM10645 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.527G>T p.C176F 17:7675085-7675085 22
10 COSM10808 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.488A>G p.Y163C 17:7675124-7675124 22
11 COSM11286 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.1015G>T p.E339* 17:7670694-7670694 22
12 COSM10863 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.833C>T p.P278L 17:7673787-7673787 22
13 COSM11073 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.1024C>T p.R342* 17:7670685-7670685 22
14 COSM10659 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.817C>T p.R273C 17:7673803-7673803 22
15 COSM43955 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.514G>A p.V172I 17:7675098-7675098 22
16 COSM10662 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.743G>A p.R248Q 17:7674220-7674220 22
17 COSM10794 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.796G>A p.G266R 17:7673824-7673824 22
18 COSM12193 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.668C>T p.P223L 17:7674863-7674863 22
19 COSM44093 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.644G>A p.S215N 17:7674887-7674887 22
20 COSM43872 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.560-1G>C p.? 17:7674972-7674972 22
21 COSM6901 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.559+1G>A p.? 17:7675052-7675052 22
22 COSM44388 TP53 large intestine,appendix,carcinoma,adenocarcinoma c.853G>T p.E285* 17:7673767-7673767 22
23 COSM6954252 TOP1 large intestine,appendix,carcinoma,adenocarcinoma c.1303A>G p.I435V 20:41101348-41101348 22
24 COSM2983542 TGFBR2 large intestine,appendix,carcinoma,adenocarcinoma c.1582C>G p.R528G 3:30691477-30691477 22
25 COSM33076 TGFBR2 large intestine,appendix,carcinoma,adenocarcinoma c.1583G>A p.R528H 3:30691478-30691478 22
26 COSM6938933 TGFBR2 large intestine,appendix,carcinoma,adenocarcinoma c.1069G>T p.G357W 3:30672252-30672252 22
27 COSM6503127 TGFBR2 large intestine,appendix,carcinoma,adenocarcinoma c.155A>C p.K52T 3:30644807-30644807 22
28 COSM6967188 TCF7L2 large intestine,appendix,carcinoma,adenocarcinoma c.1760C>T p.P587L 10:113165941-113165941 22
29 COSM6083762 STK11 large intestine,appendix,carcinoma,adenocarcinoma c.752G>T p.G251V 19:1221230-1221230 22
30 COSM6932862 STAT3 large intestine,appendix,carcinoma,adenocarcinoma c.365C>T p.A122V 17:42345566-42345566 22
31 COSM6938938 SPOP large intestine,appendix,carcinoma,adenocarcinoma c.413G>A p.R138H 17:49619048-49619048 22
32 COSM4067486 SPOP large intestine,appendix,carcinoma,adenocarcinoma c.295C>T p.R99W 17:49619291-49619291 22
33 COSM6982254 SOX9 large intestine,appendix,carcinoma,adenocarcinoma c.613A>T p.K205* 17:72122900-72122900 22
34 COSM2719086 SOX17 large intestine,appendix,carcinoma,adenocarcinoma c.329C>T p.T110M 8:54459079-54459079 22
35 COSM4596765 SMARCB1 large intestine,appendix,carcinoma,adenocarcinoma c.1130G>T p.R377L 22:23834152-23834152 22
36 COSM3724529 SMARCA4 large intestine,appendix,carcinoma,adenocarcinoma c.2438+1G>A p.? 19:11013113-11013113 22
37 COSM6983349 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1528G>T p.G510* 18:51078336-51078336 22
38 COSM14151 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1081C>A p.R361S 18:51065548-51065548 22
39 COSM14096 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1333C>T p.R445* 18:51076662-51076662 22
40 COSM14134 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1576G>T p.E526* 18:51078384-51078384 22
41 COSM14122 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1082G>A p.R361H 18:51065549-51065549 22
42 COSM6963798 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1607T>C p.L536P 18:51078415-51078415 22
43 COSM14050 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1516G>A p.V506M 18:51078324-51078324 22
44 COSM6972560 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.424+1G>T p.? 18:51048861-51048861 22
45 COSM14049 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1067C>T p.P356L 18:51065534-51065534 22
46 COSM6053946 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.413C>G p.S138* 18:51048849-51048849 22
47 COSM6976714 SMAD4 large intestine,appendix,carcinoma,adenocarcinoma c.1207A>T p.S403C 18:51067086-51067086 22
48 COSM6963796 SMAD3 large intestine,appendix,carcinoma,adenocarcinoma c.523A>G p.N175D 15:67165375-67165375 22
49 COSM6983347 SMAD3 large intestine,appendix,carcinoma,adenocarcinoma c.809G>T p.C270F 15:67181391-67181391 22
50 COSM6023609 SMAD3 large intestine,appendix,carcinoma,adenocarcinoma c.269G>T p.R90L 15:67164957-67164957 22
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Expression for Appendix Adenocarcinoma

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Search GEO for disease gene expression data for Appendix Adenocarcinoma.
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Pathways for Appendix Adenocarcinoma

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GO Terms for Appendix Adenocarcinoma

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Biological processes related to Appendix Adenocarcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.62 KRT20 KRT7
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Sources for Appendix Adenocarcinoma

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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