MCC
MCID: CTN026
MIFTS: 43

Cutaneous Neuroendocrine Carcinoma (MCC) malady

Skin diseases, Endocrine diseases, Cancer diseases, Rare diseases, Neuronal diseases categories

Summaries for Cutaneous Neuroendocrine Carcinoma

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34MalaCards
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MalaCards: Cutaneous Neuroendocrine Carcinoma, also known as merkel cell carcinoma, is related to neuroendocrine carcinoma and melanoma. An important gene associated with Cutaneous Neuroendocrine Carcinoma is SYP (synaptophysin), and among its related pathways are Notch Signaling Pathways and Presenilin action in Notch and Wnt signaling. The compounds 111in-pentetreotide and estracyt have been mentioned in the context of this disorder. Affiliated tissues include skin and salivary gland, and related mouse phenotypes are cardiovascular system and endocrine/exocrine gland.

Aliases & Classifications for Cutaneous Neuroendocrine Carcinoma

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50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
merkel cell carcinoma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

cutaneous neuroendocrine carcinoma 50
merkel cell carcinoma 50 63
mcc 50


External Ids:

SNOMED-CT via Orphanet60 254729005
ICD10 via Orphanet27 C44

Related Diseases for Cutaneous Neuroendocrine Carcinoma

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Cutaneous Neuroendocrine Carcinoma:



Diseases related to cutaneous neuroendocrine carcinoma

Symptoms for Cutaneous Neuroendocrine Carcinoma

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Drugs & Therapeutics for Cutaneous Neuroendocrine Carcinoma

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cutaneous Neuroendocrine Carcinoma

Drug clinical trials:

Search ClinicalTrials for Cutaneous Neuroendocrine Carcinoma

Search NIH Clinical Center for Cutaneous Neuroendocrine Carcinoma

Search CenterWatch for Cutaneous Neuroendocrine Carcinoma

Genetic Tests for Cutaneous Neuroendocrine Carcinoma

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Anatomical Context for Cutaneous Neuroendocrine Carcinoma

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34MalaCards
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MalaCards organs/tissues related to Cutaneous Neuroendocrine Carcinoma:

34
Skin, Salivary gland

Animal Models for Cutaneous Neuroendocrine Carcinoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cutaneous Neuroendocrine Carcinoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1CTNNB1, CDH1, NOTCH1, CHGA
2MP:00053798.0CTNNB1, CDH1, NOTCH1, CHGA
3MP:00028737.8SYP, NOTCH1, CDH1, CTNNB1

Publications for Cutaneous Neuroendocrine Carcinoma

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53PubMed
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Articles related to Cutaneous Neuroendocrine Carcinoma:

(show all 17)
idTitleAuthorsYear
1
Primary cutaneous neuroendocrine carcinoma, Merkel cell carcinoma. Case series 1991-2012. (24094946)
2013
2
Cutaneous neuroendocrine carcinoma of the external auditory canal: a case report and review of the literature. (22928140)
2012
3
Primary cutaneous neuroendocrine carcinoma within a cystic trichoblastoma: a nonfortuitous association? (21048490)
2011
4
Expression of Notch-1 and alteration of the E-cadherin/beta-catenin cell adhesion complex are observed in primary cutaneous neuroendocrine carcinoma (Merkel cell carcinoma). (19396152)
2009
5
Merkel cell carcinoma (primary cutaneous neuroendocrine carcinoma): an overview on management. (16866994)
2006
6
Immunohistochemical and ultrastructural investigation on cutaneous neuroendocrine carcinoma: report of a case and review of the literature. (16998628)
2006
7
Feline cutaneous neuroendocrine carcinoma (Merkel cell tumour): clinical and pathological findings. (12662269)
2003
8
Cytokeratin 20 immunoreactivity distinguishes Merkel cell (primary cutaneous neuroendocrine) carcinomas and salivary gland small cell carcinomas from small cell carcinomas of various sites. (9042291)
1997
9
Selective lymphadenectomy in patients with Merkel cell (cutaneous neuroendocrine) carcinoma. (9259965)
1997
10
Immunophenotypic characterization of cutaneous neuroendocrine carcinoma derived from Merkel cells]. (9005817)
1996
11
Fatal Merkel-cell tumour (cutaneous neuroendocrine carcinoma) complicating renal transplantation. (8808240)
1995
12
Tripartite differentiation (squamous, glandular, and melanocytic) of a primary cutaneous neuroendocrine carcinoma. An immunocytochemical and ultrastructural study. (8517496)
1993
13
An analysis of prognostic factors in cutaneous neuroendocrine carcinoma. (1545650)
1992
14
Primary cutaneous neuroendocrine carcinoma (Merkel cell tumor). An adnexal epithelial neoplasm. (2138434)
1990
15
Coexpression of neurofilament and keratin proteins in cutaneous neuroendocrine carcinoma cells. (2427595)
1986
16
The intermediate filament cytoskeleton of cutaneous neuroendocrine carcinoma (Merkel cell tumour). Immunohistochemical and biochemical analyses. (3923709)
1985
17
New immunocytochemical observations with diagnostic significance in cutaneous neuroendocrine carcinoma. (6084425)
1984

Variations for Cutaneous Neuroendocrine Carcinoma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cutaneous Neuroendocrine Carcinoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1SDHDNM_003002.3(SDHD): c.149A> G (p.His50Arg)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers11214077GRCh37Chr 11, 111958677: 111958677

Expression for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cutaneous Neuroendocrine Carcinoma

Search GEO for disease gene expression data for Cutaneous Neuroendocrine Carcinoma.

Pathways for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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51PathCards, 55R&D Systems, 39NCBI BioSystems Database, 31KEGG, 5Cell Signaling Technology, 54QIAGEN, 58SinoBiological, 61Thomson Reuters, 56Reactome
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Pathways related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1CTNNB1, NOTCH1
29.1CTNNB1, NOTCH1
39.1NOTCH1, CTNNB1
49.0CTNNB1, CDH1
59.0CTNNB1, CDH1
69.0CDH1, CTNNB1
79.0CDH1, CTNNB1
89.0CTNNB1, CDH1
99.0CTNNB1, CDH1
10
Show member pathways
RAC1 signaling pathway39
9.0CDH1, CTNNB1
119.0CTNNB1, CDH1
129.0CTNNB1, CDH1
139.0CDH1, CTNNB1
149.0CTNNB1, CDH1
159.0CDH1, CTNNB1
16
Show member pathways
9.0CTNNB1, CDH1
179.0CDH1, CTNNB1
189.0CTNNB1, CDH1
199.0SYP, NOTCH1, ENO2
208.5CTNNB1, CDH1, NOTCH1
218.5CTNNB1, CDH1, NOTCH1
22
Show member pathways
8.5CTNNB1, CDH1, NOTCH1

Compounds for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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Sources:
46Novoseek, 25HMDB, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR, 3BitterDB, 12DrugBank
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Compounds related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1111in-pentetreotide469.9CHGA, SYP
2estracyt469.8ENO2, CHGA
3metanephrine46 2510.8CHGA, ENO2
4vanillylmandelic acid46 2510.6CHGA, ENO2
5smcc469.5CHGA, SYP, ENO2
6s 100469.5ENO2, SYP, CHGA
7l-amino acid469.5SYP, CHGA, ENO2
8lithium chloride469.5CHGA, CTNNB1
9amine469.4ENO2, SYP, CHGA
10catecholamine469.4SYP, ENO2, CHGA
11chlorophyllin469.4CDH1, CTNNB1
12b 723469.4SYP, CDH1, CHGA
135-hydroxytryptamine469.3CHGA, SYP, ENO2
14cyclopamine46 6210.2CTNNB1, CDH1
15mibg469.2ENO2, CHGA
16acth469.2SYP, CHGA, ENO2
17haloperidol46 52 30 3 1213.1CHGA, SYP, CTNNB1
18gaba469.1SYP, CHGA, ENO2
19exisulind469.0CDH1, CTNNB1
20sodium bisulfite468.9CDH1, CTNNB1
21hematoxylin468.9ENO2, CDH1, CHGA, SYP
22silver468.9CHGA, SYP, ENO2, CDH1
23bromodeoxyuridine468.9ENO2, CHGA, CTNNB1
24methylcellulose468.9CDH1, ENO2, CTNNB1
25formaldehyde46 259.9ENO2, CHGA, SYP, CDH1
26p002468.9CHGA, CDH1, CTNNB1
27etoposide46 52 62 1211.9SYP, CHGA, CDH1, ENO2
28creatinine468.8CHGA, ENO2, SYP, CDH1
29mannitol46 129.8ENO2, CDH1, CTNNB1
30nitric oxide46 25 1210.7ENO2, CHGA, NOTCH1, SYP
31guanine46 25 1210.7CHGA, CTNNB1, SYP, ENO2
32dopamine46 30 25 1211.6CHGA, SYP, ENO2, CTNNB1
33sucrose46 25 1210.6SYP, CDH1, CHGA, CTNNB1
34histamine46 30 2510.5CTNNB1, CHGA, CDH1, SYP
35genistein46 30 62 3 25 1213.5CDH1, CTNNB1, SYP, NOTCH1
36glutamine468.5ENO2, CDH1, CTNNB1, SYP
37matrigel468.4CDH1, NOTCH1, CHGA, CTNNB1
38aspartate468.3NOTCH1, ENO2, CDH1, CTNNB1
39paraffin468.1CDH1, CHGA, CTNNB1, SYP, ENO2
40cisplatin46 52 62 1211.1CTNNB1, CHGA, SYP, ENO2, CDH1
41progesterone46 30 62 25 1212.1CDH1, CTNNB1, CHGA, SYP, ENO2
42testosterone46 62 25 1211.1CDH1, CTNNB1, ENO2, SYP, CHGA
43serine467.9CTNNB1, CHGA, SYP, CDH1, NOTCH1
44glycogen46 258.6CDH1, NOTCH1, CTNNB1, SYP, CHGA, ENO2
45dexamethasone46 52 30 1210.6ENO2, CTNNB1, SYP, NOTCH1, CDH1, CHGA
46vegf467.6ENO2, CDH1, NOTCH1, CHGA, SYP, CTNNB1
47glutamate467.6ENO2, CDH1, NOTCH1, CTNNB1, CHGA, SYP
48estrogen467.6CHGA, CTNNB1, CDH1, ENO2, NOTCH1, SYP
49retinoic acid46 258.6CHGA, CDH1, ENO2, CTNNB1, SYP, NOTCH1
50tyrosine467.5CTNNB1, ENO2, NOTCH1, SYP, CHGA, CDH1

GO Terms for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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17Gene Ontology
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Cellular components related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1catenin complexGO:0163429.2CTNNB1, CDH1
2cell-cell adherens junctionGO:0059139.1CTNNB1, CDH1
3cytoplasmic side of plasma membraneGO:0098989.1CTNNB1, CDH1
4lateral plasma membraneGO:0163289.0CTNNB1, CDH1
5apical part of cellGO:0451779.0CTNNB1, CDH1
6cell junctionGO:0300548.5SYP, CDH1, CTNNB1
7perinuclear region of cytoplasmGO:0484718.3CTNNB1, CDH1, CHGA

Biological processes related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of oligodendrocyte differentiationGO:0487159.4CTNNB1, NOTCH1
2cell fate specificationGO:0017089.3NOTCH1, CTNNB1
3hair follicle morphogenesisGO:0310699.3CTNNB1, NOTCH1
4cellular response to indole-3-methanolGO:0716819.3CTNNB1, CDH1
5embryonic hindlimb morphogenesisGO:0351169.3CTNNB1, NOTCH1
6regulation of protein localization to cell surfaceGO:20000089.3CTNNB1, CDH1
7epithelial to mesenchymal transitionGO:0018379.2NOTCH1, CTNNB1
8cellular component disassembly involved in execution phase of apoptosisGO:0069219.1CTNNB1, CDH1
9negative regulation of canonical Wnt signaling pathwayGO:0900909.0CDH1, NOTCH1
10liver developmentGO:0018899.0NOTCH1, CTNNB1
11cell-cell adhesionGO:0163379.0CTNNB1, CDH1
12positive regulation of transcription, DNA-templatedGO:0458938.5CTNNB1, CDH1, NOTCH1

Molecular functions related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:0199039.0CTNNB1, CDH1

Products for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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  • Antibodies
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Sources for Cutaneous Neuroendocrine Carcinoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet