MCC
MCID: CTN026
MIFTS: 43

Cutaneous Neuroendocrine Carcinoma (MCC) malady

Skin diseases, Endocrine diseases, Cancer diseases, Rare diseases, Neuronal diseases categories
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Summaries for Cutaneous Neuroendocrine Carcinoma

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33MalaCards
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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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49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
merkel cell carcinoma:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

cutaneous neuroendocrine carcinoma 49
merkel cell carcinoma 49 62
mcc 49


External Ids:

SNOMED-CT via Orphanet59 254729005
ICD10 via Orphanet26 C44

Related Diseases for Cutaneous Neuroendocrine Carcinoma

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cutaneous Neuroendocrine Carcinoma

Search NIH Clinical Center for Cutaneous Neuroendocrine Carcinoma

Genetic Tests for Cutaneous Neuroendocrine Carcinoma

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Anatomical Context for Cutaneous Neuroendocrine Carcinoma

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33MalaCards
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MalaCards organs/tissues related to Cutaneous Neuroendocrine Carcinoma:

33
Skin, Salivary gland

Animal Models for Cutaneous Neuroendocrine Carcinoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cutaneous Neuroendocrine Carcinoma:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 54R&D Systems, 38NCBI BioSystems Database, 30KEGG, 5Cell Signaling Technology, 53QIAGEN, 57SinoBiological, 60Thomson Reuters, 55Reactome
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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 pathway38
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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45Novoseek, 24HMDB, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 3BitterDB, 11DrugBank
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Compounds related to Cutaneous Neuroendocrine Carcinoma according to GeneCards/GeneDecks:

(show top 50)    (show all 99)
idCompoundScoreTop Affiliating Genes
1111in-pentetreotide459.9CHGA, SYP
2estracyt459.8ENO2, CHGA
3metanephrine45 2410.8CHGA, ENO2
4vanillylmandelic acid45 2410.6CHGA, ENO2
5smcc459.5CHGA, SYP, ENO2
6s 100459.5ENO2, SYP, CHGA
7l-amino acid459.5SYP, CHGA, ENO2
8lithium chloride459.5CHGA, CTNNB1
9amine459.4ENO2, SYP, CHGA
10catecholamine459.4SYP, ENO2, CHGA
11chlorophyllin459.4CDH1, CTNNB1
12b 723459.4SYP, CDH1, CHGA
135-hydroxytryptamine459.3CHGA, SYP, ENO2
14cyclopamine45 6110.2CTNNB1, CDH1
15mibg459.2ENO2, CHGA
16acth459.2SYP, CHGA, ENO2
17haloperidol45 51 29 3 1113.1CHGA, SYP, CTNNB1
18gaba459.1SYP, CHGA, ENO2
19exisulind459.0CDH1, CTNNB1
20sodium bisulfite458.9CDH1, CTNNB1
21hematoxylin458.9ENO2, CDH1, CHGA, SYP
22silver458.9CHGA, SYP, ENO2, CDH1
23bromodeoxyuridine458.9ENO2, CHGA, CTNNB1
24methylcellulose458.9CDH1, ENO2, CTNNB1
25formaldehyde45 249.9ENO2, CHGA, SYP, CDH1
26p002458.9CHGA, CDH1, CTNNB1
27etoposide45 51 61 1111.9SYP, CHGA, CDH1, ENO2
28creatinine458.8CHGA, ENO2, SYP, CDH1
29mannitol45 119.8ENO2, CDH1, CTNNB1
30nitric oxide45 24 1110.7ENO2, CHGA, NOTCH1, SYP
31guanine45 24 1110.7CHGA, CTNNB1, SYP, ENO2
32dopamine45 29 24 1111.6CHGA, SYP, ENO2, CTNNB1
33sucrose45 24 1110.6SYP, CDH1, CHGA, CTNNB1
34histamine45 29 2410.5CTNNB1, CHGA, CDH1, SYP
35genistein45 29 61 3 24 1113.5CDH1, CTNNB1, SYP, NOTCH1
36glutamine458.5ENO2, CDH1, CTNNB1, SYP
37matrigel458.4CDH1, NOTCH1, CHGA, CTNNB1
38aspartate458.3NOTCH1, ENO2, CDH1, CTNNB1
39paraffin458.1CDH1, CHGA, CTNNB1, SYP, ENO2
40cisplatin45 51 61 1111.1CTNNB1, CHGA, SYP, ENO2, CDH1
41progesterone45 29 61 24 1112.1CDH1, CTNNB1, CHGA, SYP, ENO2
42testosterone45 61 24 1111.1CDH1, CTNNB1, ENO2, SYP, CHGA
43serine457.9CTNNB1, CHGA, SYP, CDH1, NOTCH1
44glycogen45 248.6CDH1, NOTCH1, CTNNB1, SYP, CHGA, ENO2
45dexamethasone45 51 29 1110.6ENO2, CTNNB1, SYP, NOTCH1, CDH1, CHGA
46vegf457.6ENO2, CDH1, NOTCH1, CHGA, SYP, CTNNB1
47glutamate457.6ENO2, CDH1, NOTCH1, CTNNB1, CHGA, SYP
48estrogen457.6CHGA, CTNNB1, CDH1, ENO2, NOTCH1, SYP
49retinoic acid45 248.6CHGA, CDH1, ENO2, CTNNB1, SYP, NOTCH1
50tyrosine457.5CTNNB1, ENO2, NOTCH1, SYP, CHGA, CDH1

GO Terms for genes affiliated with Cutaneous Neuroendocrine Carcinoma

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16Gene 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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Sources for Cutaneous Neuroendocrine Carcinoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet