ICT
MCID: CRC014
MIFTS: 51

Carcinoid Tumors, Intestinal (ICT)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Carcinoid Tumors, Intestinal

MalaCards integrated aliases for Carcinoid Tumors, Intestinal:

Name: Carcinoid Tumors, Intestinal 57 13
Gastrointestinal Carcinoid Tumor 75 55 73
Carcinoid 75 37 55
Malignant Carcinoid Syndrome 59 73
Carcinoid Tumor 44 73
Argentaffinoma 75 73
Carcinoid Tumor No Icd-O Subtype 73
Tumor, Carcinoid, Intestinal 40
Carcinoid Tumor of Intestine 73
Intestinal Carcinoid Tumor 75
Carcinoid Syndrome 59
Ict 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
carcinoid tumors, intestinal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 114900
Orphanet 59 ORPHA100093
ICD10 via Orphanet 34 E34.0
MedGen 42 C0349535
MeSH 44 D002276
KEGG 37 H00034
SNOMED-CT via HPO 69 263681008

Summaries for Carcinoid Tumors, Intestinal

UniProtKB/Swiss-Prot : 75 Intestinal carcinoid tumor: A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract.

MalaCards based summary : Carcinoid Tumors, Intestinal, also known as gastrointestinal carcinoid tumor, is related to carcinoid syndrome and serotonin syndrome. An important gene associated with Carcinoid Tumors, Intestinal is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Neuroscience. The drugs Afinitor and Aloxi have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and liver, and related phenotypes are intestinal carcinoid and nausea and vomiting

Description from OMIM: 114900

Related Diseases for Carcinoid Tumors, Intestinal

Diseases related to Carcinoid Tumors, Intestinal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 549)
# Related Disease Score Top Affiliating Genes
1 carcinoid syndrome 33.4 SYP SST MEN1 ENO2 CHGA
2 serotonin syndrome 31.8 SST NOTCH1 MEN1 CHGA
3 pulmonary blastoma 31.8 CHGA NKX2-1 SYP
4 goblet cell carcinoid 30.8 CHGA ENO2
5 cystic teratoma 30.4 ENO2 NKX2-1 SYP
6 cystadenoma 30.2 CHGA SYP
7 horseshoe kidney 30.1 SYP NKX2-1 ENO2 CHGA
8 lung oat cell carcinoma 30.1 CHGA ENO2
9 small cell carcinoma 29.9 SYP NKX2-1 ENO2 CHGA
10 large cell neuroendocrine carcinoma 29.8 SYP NKX2-1 ENO2 CHGA
11 tubular adenocarcinoma 29.8 CHGA SYP
12 gastric tubular adenocarcinoma 29.8 CHGA SYP
13 ganglioneuroblastoma 29.8 ENO2 SYP
14 zollinger-ellison syndrome 29.7 CHGA MEN1 SST
15 spinal meningioma 29.7 CHGA ENO2
16 glomus tumor 29.6 ENO2 SDHD SYP
17 paragangliomas 1 29.6 CHGA SDHD
18 sclerosing hemangioma 29.6 CHGA NKX2-1 SYP
19 vipoma 29.6 CHGA SST
20 multiple endocrine neoplasia, type iia 29.6 MEN1 SDHD
21 somatostatinoma 29.6 SST ENO2 CHGA
22 paraganglioma 29.5 SYP SST SDHD ENO2 CHGA
23 middle ear adenoma 29.5 ENO2 SYP
24 teratoma 29.5 ENO2 NKX2-1 SYP
25 acromegaly 29.5 MEN1 SST SSTR2
26 gastrinoma 29.5 CHGA MEN1 SST
27 pituitary tumors 29.5 MEN1 SST
28 islet cell tumor 29.5 CHGA MEN1 SST
29 ependymoma 29.4 ENO2 MEN1 SYP
30 insulinoma 29.4 CHGA MEN1 SST
31 collagenous colitis 29.4 CHGA CHGB
32 hemangioma 29.4 SYP NKX2-1 ENO2 CHGA
33 pulmonary sclerosing hemangioma 29.4 SYP NKX2-1 CHGA
34 ectopic cushing syndrome 29.4 MEN1 SST SYP
35 pituitary adenoma, prolactin-secreting 29.4 MEN1 SST SSTR2
36 malignant pheochromocytoma 29.1 SYP SST ENO2 CHGA
37 von hippel-lindau syndrome 29.1 SDHD MEN1 CHGB CHGA
38 gastrointestinal stromal tumor 29.1 SYP SDHD MEN1 ENO2 CHGA
39 duodenal gastrinoma 29.1 SST MEN1 ENO2 CHGA
40 medulloblastoma 29.0 ENO2 NOTCH1 SSTR2 SYP
41 multiple endocrine neoplasia, type i 28.9 SYP SST SDHD MEN1 CHGA
42 small cell cancer of the lung 28.9 SYP SSTR2 SST NKX2-1 ENO2 CHGA
43 thyroid carcinoma, familial medullary 28.7 SSTR2 SST NKX2-1 MEN1 ENO2 CHGB
44 meningioma, familial 28.7 SYP SSTR2 SST MEN1 ENO2
45 neuroendocrine tumor 28.7 SYP SSTR2 SST NKX2-1 MEN1 ENO2
46 pheochromocytoma 28.5 SYP SST SDHD MEN1 ENO2 CHGB
47 appendix carcinoid tumor 12.4
48 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.2
49 carcinoid tumor childhood 12.1
50 small intestine carcinoid neuroendocrine tumor 12.0

Graphical network of the top 20 diseases related to Carcinoid Tumors, Intestinal:



Diseases related to Carcinoid Tumors, Intestinal

Symptoms & Phenotypes for Carcinoid Tumors, Intestinal

Symptoms via clinical synopsis from OMIM:

57
Oncology:
intestinal carcinoid
appendiceal carcinoid
malignant carcinoid of ileum


Clinical features from OMIM:

114900

Human phenotypes related to Carcinoid Tumors, Intestinal:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal carcinoid 59 32 Frequent (79-30%) HP:0006723
2 nausea and vomiting 59 Occasional (29-5%)
3 myopathy 59 Very rare (<4-1%)
4 elevated hepatic transaminases 59 Occasional (29-5%)
5 asthma 59 Occasional (29-5%)
6 carcinoid tumor 59 Obligate (100%)
7 episodic abdominal pain 59 Frequent (79-30%)
8 tricuspid regurgitation 59 Occasional (29-5%)
9 night sweats 59 Frequent (79-30%)
10 paraganglioma 59 Very rare (<4-1%)
11 increased lacrimation 59 Occasional (29-5%)
12 heart murmur 59 Occasional (29-5%)
13 rhinorrhea 59 Occasional (29-5%)
14 palpitations 59 Occasional (29-5%)
15 pulmonary carcinoid tumor 59 Occasional (29-5%)
16 right ventricular failure 59 Occasional (29-5%)
17 chronic noninfectious lymphadenopathy 59 Occasional (29-5%)
18 hepatic necrosis 59 Very rare (<4-1%)
19 erythematous plaque 59 Frequent (79-30%)
20 facial telangiectasia 59 Occasional (29-5%)
21 lack of bowel sounds 59 Very rare (<4-1%)
22 increased serum serotonin 59 Occasional (29-5%)
23 protracted diarrhea 59 Frequent (79-30%)
24 bronchospasm 59 Occasional (29-5%)
25 small intestine carcinoid 59 Frequent (79-30%)
26 abnormal b-type natriuretic peptide level 59 Occasional (29-5%)
27 atypical pulmonary carcinoid tumor 59 Very rare (<4-1%)

MGI Mouse Phenotypes related to Carcinoid Tumors, Intestinal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 MEN1 NKX2-1 NOTCH1 SST SSTR2
2 endocrine/exocrine gland MP:0005379 9.63 CHGA CHGB MEN1 NKX2-1 NOTCH1 SDHD
3 homeostasis/metabolism MP:0005376 9.56 CHGA CHGB MEN1 NKX2-1 NOTCH1 SDHD
4 nervous system MP:0003631 9.32 CHGA CHGB ENO2 MEN1 NKX2-1 NOTCH1

Drugs & Therapeutics for Carcinoid Tumors, Intestinal

FDA approved drugs:

(show all 39)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Afinitor 18 49 EVEROLIMUS Novartis March 2009
2
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
3
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
4
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
5
Inform HER-2/neu breast cancer test 18 Oncor January 1998
6
Kadian 18 MORPHINE SULFATE Purepac Pharmaceutical July 1996
7
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
8
Self-examination breast pad 18 Inventive Products on December 22, 1995
9
Sprycel 18 49 DASATINIB Bristol-Myers Squibb June 2006
10
Synercid I.V. 18 DALFOPRISTIN; QUINUPRISTIN QUINUPRISTIN; DALFOPRISTIN Rhone Poulenc Rorer September 1999
11
Taxotere 18 49 DOCETAXEL Rhone Poulenc Rorer May 1996
12
Trelstar Depot/ Trelstar LA 18 TRIPTORELIN PAMOATE Debio Rechereche Pharmaceutique, Target Research Associates/ Debiopharm June 2000/ June 2001
13
UroXatral 18 ALFUZOSIN HYDROCHLORIDE Sanofi-aventis June 2003
14
Visipaque (270 &320) 18 IODIXANOL Nycomed April 1996
15
Zometa 18 49 ZOLEDRONIC ACID Novartis August 2001/ February 2002
16
Adcirca 18 TADALAFIL Eli Lilly May 2009
17
Advair 18 FLUTICASONE PROPIONATE; SALMETEROL XINAFOATE GlaxoSmithKline August 2000
18
Aldurazyme 18 LARONIDASE Genzyme May 2003
19
Alvesco 18 CICLESONIDE Nycomed January 2008
20
Arcapta 18 INDACATEROL MALEATE Novartis July 2011
21
Brovana 18 ARFORMOTEROL TARTRATE Sepracor in October 2006
22
Cayston 18 AZTREONAM Gilead February 2010
23
Esbriet 18 PIRFENIDONE InterMune October 2014
24
Foradil Aerolizer 18 FORMOTEROL FUMARATE Novartis February 2001 (asthma, bronchospasm); September 2001 (COPD)
25
Incruse Ellipta 18 UMECLIDINIUM BROMIDE GlaxoSmithKline May 2014
26
Kalydeco 18 IVACAFTOR Vertex Pharmaceuticals January of 2012
27
Letairis 18 AMBRISENTAN Gilead June 2007
28
Opsumit 18 MACITENTAN Actelion Pharmaceuticals October 2013
29
Pulmozyme 18 DORNASE ALFA Genentech December 1996|March 1998
30
Singulair 18 MONTELUKAST SODIUM Merck February 1998
31
Spiriva HandiHaler 18 TIOTROPIUM BROMIDE Boehringer Ingelheim February 2004
32
Tequin 18 Bristol-Myers Squibb December, 1999
33
Tobi 18 TOBRAMYCIN PathoGenesis December 1997
34
Tracleer 18 BOSENTAN Actelion November 2001
35
Tudorza Pressair 18 ACLIDINIUM BROMIDE Forest Laboratories July 2012
36
Visipaque 18 IODIXANOL Nycomed April 1996
37
Xolair 18 OMALIZUMAB Genentech June 2003
38
Xopenex 18 LEVALBUTEROL HYDROCHLORIDE Sepracor February 2002
39
Zyflo 18 ZILEUTON Abbott Laboratories January 1997

Drugs for Carcinoid Tumors, Intestinal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nivolumab Approved Phase 2 946414-94-4
2 Antibodies Phase 2
3 Immunologic Factors Phase 2
4 Antibodies, Monoclonal Phase 2
5 Immunoglobulins Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Ipilimumab and Nivolumab for the Treatment of Rare Cancers Recruiting NCT02923934 Phase 2 Ipilimumab;Nivolumab
2 Clinic, Pathologic and Genetic Characterization of Patients With Familial Carcinoid Tumors (Study From the GTE, Groupe d'étude Des Tumeurs Endocrines) Recruiting NCT03622333 Not Applicable

Search NIH Clinical Center for Carcinoid Tumors, Intestinal

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: carcinoid tumor

Genetic Tests for Carcinoid Tumors, Intestinal

Anatomical Context for Carcinoid Tumors, Intestinal

MalaCards organs/tissues related to Carcinoid Tumors, Intestinal:

41
Small Intestine, Colon, Liver, Lung, Kidney, Bone, Heart

Publications for Carcinoid Tumors, Intestinal

Articles related to Carcinoid Tumors, Intestinal:

(show all 18)
# Title Authors Year
1
Synchronous Gastrointestinal Carcinoid Tumor and Colon Adenocarcinoma: Case Reports and Literature Review. ( 28584225 )
2017
2
Bilateral Extraocular Muscle Metastases From a Gastrointestinal Carcinoid Tumor. ( 26767734 )
2016
3
Cardiac manifestations of gastrointestinal carcinoid tumor. ( 23834689 )
2013
4
Costal metastasis: A singular localization of gastrointestinal carcinoid tumor. ( 22558016 )
2012
5
Gastrointestinal carcinoid tumor and chylous ascites, a rare association with a poor prognosis. A case report. ( 18705413 )
2008
6
Metastatic Gastrointestinal Carcinoid Tumor with Unknown Primary Site. ( 27303478 )
2007
7
Nuclear translocation of beta-catenin protein but absence of beta-catenin and APC mutation in gastrointestinal carcinoid tumor. ( 17009161 )
2006
8
Regulation of neuroendocrine differentiation in gastrointestinal carcinoid tumor cells by notch signaling. ( 15870121 )
2005
9
Insulin-like growth factor 1 signaling in human gastrointestinal carcinoid tumor cells. ( 15657590 )
2004
10
Carcinoid syndrome from gastrointestinal carcinoid tumor without distant metastases. ( 12080244 )
2002
11
Gastrointestinal carcinoid tumor in a patient with chronic diarrhea. ( 11784227 )
2002
12
Accumulation of beta-catenin protein and mutations in exon 3 of beta-catenin gene in gastrointestinal carcinoid tumor. ( 11559529 )
2001
13
Strip biopsy for gastrointestinal carcinoid tumor. ( 9610665 )
1998
14
[Gastrointestinal carcinoid tumor--an immunohistochemical and histochemical study]. ( 1723678 )
1991
15
Gastrointestinal carcinoid tumor metastatic to the orbit. ( 2688132 )
1989
16
Ampullary somatostatinoma: psammomatous variant of gastrointestinal carcinoid tumor--an immunohistochemical and ultrastructural study. Report of a case and review of the literature. ( 6314801 )
1983
17
Whole abdominal radiation in the management of metastatic gastrointestinal carcinoid tumor. ( 6174487 )
1981
18
Association of gastrointestinal carcinoid tumor with cardiovascular abnormalities. ( 13248872 )
1955

Variations for Carcinoid Tumors, Intestinal

ClinVar genetic disease variations for Carcinoid Tumors, Intestinal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh37 Chromosome 11, 111958677: 111958677
2 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh38 Chromosome 11, 112087953: 112087953

Expression for Carcinoid Tumors, Intestinal

Search GEO for disease gene expression data for Carcinoid Tumors, Intestinal.

Pathways for Carcinoid Tumors, Intestinal

Pathways related to Carcinoid Tumors, Intestinal according to KEGG:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Carcinoid Tumors, Intestinal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 ENO2 NKX2-1 NOTCH1 SYP

GO Terms for Carcinoid Tumors, Intestinal

Biological processes related to Carcinoid Tumors, Intestinal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.58 MEN1 NKX2-1 NOTCH1
2 oligodendrocyte differentiation GO:0048709 9.37 NKX2-1 NOTCH1
3 endoderm development GO:0007492 9.32 NKX2-1 NOTCH1
4 neuron fate commitment GO:0048663 9.26 NKX2-1 NOTCH1
5 negative regulation of cell proliferation GO:0008285 9.26 MEN1 NOTCH1 SST SSTR2
6 negative regulation of cell-substrate adhesion GO:0010812 9.16 MEN1 NOTCH1
7 forebrain development GO:0030900 8.8 NKX2-1 NOTCH1 SSTR2

Sources for Carcinoid Tumors, Intestinal

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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