MCID: CRC014
MIFTS: 46

Carcinoid Tumors, Intestinal

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

Aliases & Classifications for Carcinoid Tumors, Intestinal

MalaCards integrated aliases for Carcinoid Tumors, Intestinal:

Name: Carcinoid Tumors, Intestinal 53 13
Gastrointestinal Carcinoid Tumor 71 51 69
Carcinoid 71 36 51
Malignant Carcinoid Syndrome 55 69
Carcinoid Tumor of Intestine 69 28
Carcinoid Tumor 41 69
Argentaffinoma 71 69
Carcinoid Tumor No Icd-O Subtype 69
Intestinal Carcinoid Tumor 71
Carcinoid Syndrome 55
Ict 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
carcinoid tumors, intestinal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

OMIM 53 114900
Orphanet 55 ORPHA100093
ICD10 via Orphanet 33 E34.0
MedGen 39 C0349535
MeSH 41 D002276
KEGG 36 H00034
SNOMED-CT via HPO 65 263681008

Summaries for Carcinoid Tumors, Intestinal

UniProtKB/Swiss-Prot : 71 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, and has symptoms including intestinal carcinoid, nausea and vomiting and rhinorrhea. 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 nivolumab and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include small intestine and heart, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

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 242)
# Related Disease Score Top Affiliating Genes
1 carcinoid syndrome 32.7 CHGA ENO2 MEN1 SST SYP
2 serotonin syndrome 30.7 CHGA MEN1 NOTCH1 SST
3 vipoma 29.7 CHGA SST
4 gastrointestinal neuroendocrine tumor 29.7 CHGA SYP
5 adenoma 29.6 MEN1 SST SSTR2
6 zollinger-ellison syndrome 29.5 CHGA MEN1 SST
7 somatostatinoma 29.5 CHGA ENO2 SST
8 acromegaly 29.2 MEN1 SST SSTR2
9 multiple endocrine neoplasia, type i 28.2 CHGA MEN1 SDHD SST SYP
10 pheochromocytoma 27.2 CHGA CHGB ENO2 MEN1 SDHD SST
11 neuroendocrine tumor 26.8 CHGA CHGB ENO2 MEN1 NKX2-1 SDHD
12 appendix carcinoid tumor 12.2
13 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.0
14 connective tissue disease 10.9
15 collagen disease 10.9
16 gastric leiomyosarcoma 10.5 ENO2 SDHD
17 intracranial primitive neuroectodermal tumor 10.4 CHGA ENO2
18 rete testis adenocarcinoma 10.4 ENO2 NKX2-1
19 epithelioid malignant peripheral nerve sheath tumor 10.4 CHGA ENO2
20 goblet cell carcinoid 10.4 CHGA ENO2
21 acute thyroiditis 10.4 CHGA ENO2
22 rete testis neoplasm 10.4 ENO2 NKX2-1
23 nodular ganglioneuroblastoma 10.4 CHGA ENO2
24 retroperitoneal neuroblastoma 10.4 ENO2 SST
25 spinal canal and spinal cord meningioma 10.4 CHGA ENO2
26 duodenal somatostatinoma 10.4 ENO2 SST
27 gastrointestinal neuroendocrine benign tumor 10.4 CHGA SST
28 gastric neuroendocrine neoplasm 10.4 CHGA SST
29 spinal meningioma 10.3 CHGA ENO2
30 malignant sertoli cell tumor 10.3 ENO2 SYP
31 diffuse pulmonary fibrosis 10.3 CHGA ENO2
32 sinonasal undifferentiated carcinoma 10.3 ENO2 SYP
33 cutaneous ganglioneuroma 10.3 ENO2 SYP
34 sensory organ benign neoplasm 10.3 ENO2 SYP
35 hyperinsulinemic hypoglycemia, familial, 2 10.3 CHGA SST
36 middle ear adenoma 10.3 ENO2 SYP
37 extrahepatic bile duct adenocarcinoma 10.3 ENO2 SYP
38 papillary tumor of the pineal region 10.3 ENO2 SYP
39 orbital cancer 10.3 ENO2 SYP
40 ureter small cell carcinoma 10.3 CHGA SYP
41 ovarian carcinosarcoma 10.3 ENO2 SYP
42 esophageal neuroendocrine tumor 10.3 CHGA SYP
43 central nervous system primitive neuroectodermal neoplasm 10.3 ENO2 SYP
44 cerebellum cancer 10.3 ENO2 SYP
45 subependymal glioma 10.3 ENO2 SYP
46 ovarian large-cell neuroendocrine carcinoma 10.3 CHGA SYP
47 cerebral neuroblastoma 10.3 ENO2 SYP
48 acinar cell cystadenocarcinoma 10.3 CHGA SYP
49 peritoneal serous adenocarcinoma 10.3 CHGA SYP
50 extraosseous chondrosarcoma 10.3 ENO2 SYP

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:

53
Oncology:
intestinal carcinoid
appendiceal carcinoid
malignant carcinoid of ileum


Clinical features from OMIM:

114900

Human phenotypes related to Carcinoid Tumors, Intestinal:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal carcinoid 55 31 Frequent (79-30%) HP:0006723
2 nausea and vomiting 55 Occasional (29-5%)
3 rhinorrhea 55 Occasional (29-5%)
4 night sweats 55 Frequent (79-30%)
5 myopathy 55 Very rare (<4-1%)
6 elevated hepatic transaminases 55 Occasional (29-5%)
7 asthma 55 Occasional (29-5%)
8 carcinoid tumor 55 Obligate (100%)
9 episodic abdominal pain 55 Frequent (79-30%)
10 tricuspid regurgitation 55 Occasional (29-5%)
11 paraganglioma 55 Very rare (<4-1%)
12 increased lacrimation 55 Occasional (29-5%)
13 heart murmur 55 Occasional (29-5%)
14 palpitations 55 Occasional (29-5%)
15 pulmonary carcinoid tumor 55 Occasional (29-5%)
16 chronic noninfectious lymphadenopathy 55 Occasional (29-5%)
17 hepatic necrosis 55 Very rare (<4-1%)
18 right ventricular failure 55 Occasional (29-5%)
19 erythematous plaque 55 Frequent (79-30%)
20 facial telangiectasia 55 Occasional (29-5%)
21 lack of bowel sounds 55 Very rare (<4-1%)
22 increased serum serotonin 55 Occasional (29-5%)
23 protracted diarrhea 55 Frequent (79-30%)
24 bronchospasm 55 Occasional (29-5%)
25 small intestine carcinoid 55 Frequent (79-30%)
26 abnormal b-type natriuretic peptide level 55 Occasional (29-5%)
27 atypical pulmonary carcinoid tumor 55 Very rare (<4-1%)

MGI Mouse Phenotypes related to Carcinoid Tumors, Intestinal:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 SST SSTR2 MEN1 NKX2-1 NOTCH1
2 endocrine/exocrine gland MP:0005379 9.63 SDHD CHGA CHGB MEN1 NKX2-1 NOTCH1
3 homeostasis/metabolism MP:0005376 9.56 SST SSTR2 CHGA CHGB MEN1 NKX2-1
4 nervous system MP:0003631 9.28 SST SSTR2 SYP CHGB ENO2 MEN1

Drugs & Therapeutics for Carcinoid Tumors, Intestinal

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, Monoclonal Phase 2
3 Immunoglobulins Phase 2
4 Antibodies 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

Search NIH Clinical Center for Carcinoid Tumors, Intestinal

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: carcinoid tumor

Genetic Tests for Carcinoid Tumors, Intestinal

Genetic tests related to Carcinoid Tumors, Intestinal:

# Genetic test Affiliating Genes
1 Carcinoid Tumor of Intestine 28 SDHD

Anatomical Context for Carcinoid Tumors, Intestinal

MalaCards organs/tissues related to Carcinoid Tumors, Intestinal:

38
Small Intestine, Heart

Publications for Carcinoid Tumors, Intestinal

Articles related to Carcinoid Tumors, Intestinal:

(show all 14)
# Title Authors Year
1
AKT and PTEN expression in human gastrointestinal carcinoid tumors. ( 19956439 )
2009
2
Immunohistochemical staining for CDX-2, PDX-1, NESP-55, and TTF-1 can help distinguish gastrointestinal carcinoid tumors from pancreatic endocrine and pulmonary carcinoid tumors. ( 19065104 )
2009
3
Gastrointestinal carcinoid tumor and chylous ascites, a rare association with a poor prognosis. A case report. ( 18705413 )
2008
4
Nuclear translocation of beta-catenin protein but absence of beta-catenin and APC mutation in gastrointestinal carcinoid tumor. ( 17009161 )
2006
5
Regulation of neuroendocrine differentiation in gastrointestinal carcinoid tumor cells by notch signaling. ( 15870121 )
2005
6
Current management of gastrointestinal carcinoid tumors. ( 15358337 )
2004
7
Insulin-like growth factor 1 signaling in human gastrointestinal carcinoid tumor cells. ( 15657590 )
2004
8
Genetic alterations in goblet cell carcinoids of the vermiform appendix and comparison with gastrointestinal carcinoid tumors. ( 14681318 )
2003
9
Different beta-catenin immunoexpression in carcinoid tumors of the appendix in comparison to other gastrointestinal carcinoid tumors. ( 12389996 )
2002
10
Carcinoid syndrome from gastrointestinal carcinoid tumor without distant metastases. ( 12080244 )
2002
11
Accumulation of beta-catenin protein and mutations in exon 3 of beta-catenin gene in gastrointestinal carcinoid tumor. ( 11559529 )
2001
12
Gastrointestinal carcinoid tumors and second primary malignancies. ( 11135275 )
2000
13
[Gastrointestinal carcinoid tumor--an immunohistochemical and histochemical study]. ( 1723678 )
1991
14
Ampullary somatostatinoma: psammomatous variant of gastrointestinal carcinoid tumor--an immunohistochemical and ultrastructural study. Report of a case and review of the literature. ( 6314801 )
1983

Variations for Carcinoid Tumors, Intestinal

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:

36
# 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 negative regulation of cell proliferation GO:0008285 9.46 MEN1 NOTCH1 SST SSTR2
3 negative regulation of osteoblast differentiation GO:0045668 9.43 MEN1 NOTCH1
4 oligodendrocyte differentiation GO:0048709 9.37 NKX2-1 NOTCH1
5 endoderm development GO:0007492 9.32 NKX2-1 NOTCH1
6 neuron fate commitment GO:0048663 9.26 NKX2-1 NOTCH1
7 negative regulation of cell-substrate adhesion GO:0010812 8.96 MEN1 NOTCH1
8 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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