MCID: CTN021
MIFTS: 48

Cutaneous Malignant Melanoma malady

Genetic diseases, Cancer diseases, Rare diseases, Nephrological diseases categories
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Summaries for Cutaneous Malignant Melanoma

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33MalaCards
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MalaCards: Cutaneous Malignant Melanoma, also known as megalencephaly cutis marmorata telangiectatica congenita, is related to melanoma and dysplastic nevus syndrome. An important gene associated with Cutaneous Malignant Melanoma is MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)), and among its related pathways are Oncogene Induced Senescence and Transcription P53 signaling pathway. The compounds fascaplysin and phaeomelanin have been mentioned in the context of this disorder. Affiliated tissues include lymph node, skin and breast, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Aliases & Classifications for Cutaneous Malignant Melanoma

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20GeneTests, 62UMLS
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Classifications:



Aliases & Descriptions:

cutaneous malignant melanoma 20
megalencephaly cutis marmorata telangiectatica congenita 62
familial atypical multiple mole-melanoma 62
dysplastic nevus syndrome 62
cutaneous melanoma 62


Related Diseases for Cutaneous Malignant Melanoma

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17GeneCards, 18GeneDecks
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Diseases in the Melanoma, Cutaneous Malignant, 2 family:

cutaneous malignant melanoma Cdkn2a-Related Cutaneous Malignant Melanoma
Cdk4-Related Cutaneous Malignant Melanoma Melanoma, Cutaneous Malignant, 1
Melanoma, Cutaneous Malignant, 4 Melanoma, Cutaneous Malignant 8
Melanoma, Cutaneous Malignant, 9 Melanoma, Cutaneous Malignant 10
Melanoma, Cutaneous Malignant, 3 Melanoma, Cutaneous Malignant, 6
Melanoma, Cutaneous Malignant, 5 Melanoma, Cutaneous Malignant, 7

Diseases related to Cutaneous Malignant Melanoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma32.1ASIP, CCR10, CDKN2A, CDK4, MC1R
2dysplastic nevus syndrome10.5
3basal cell carcinoma10.5
4atypical mole syndrome10.4
5choroiditis10.4
6endotheliitis10.4
7cdkn2a-related cutaneous malignant melanoma10.3
8cdk4-related cutaneous malignant melanoma10.3
9melanoma, malignant, somatic10.3
10neurofibromatosis10.1
11lichen planus10.1
12clear cell sarcoma10.1
13mycosis fungoides10.1
14vitiligo10.1
15angiolipoma10.1
16breast cancer10.1
17breast disease10.1
18embryonal rhabdomyosarcoma10.1
19hypopyon10.1
20intestinal perforation10.1
21learning disability10.1
22leiomyoma10.1
23meningioma10.1
24night blindness10.1
25psoriasis10.1
26retinitis10.1
27rhabdomyosarcoma10.1
28sarcoma10.1
29thyroid cancer10.1
30thyroiditis10.1
31chromosome 9p deletion10.1
32giant congenital nevus10.1
33lentigo maligna melanoma10.1
34melanoma-associated retinopathy10.1
35mutagen sensitivity10.1
36ocular melanoma10.1
37superficial spreading melanoma10.1
38melanoma, cutaneous malignant 810.1
39melanoma, cutaneous malignant, 210.1
40melanoma, cutaneous malignant, 610.1
41blindness10.1
42nevus of ota10.1
43anaplastic astrocytoma10.1CDK4, CDKN2A
44anaplastic oligodendroglioma10.0CDK4, CDKN2A
45malignant peripheral nerve sheath tumor10.0CDKN2A, CDK4
46intraocular melanoma10.0MC1R, CDKN2A, CDK4

Graphical network of the top 20 diseases related to Cutaneous Malignant Melanoma:



Diseases related to cutaneous malignant melanoma

Symptoms for Cutaneous Malignant Melanoma

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Drugs & Therapeutics for Cutaneous Malignant Melanoma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cutaneous Malignant Melanoma

Search NIH Clinical Center for Cutaneous Malignant Melanoma

Genetic Tests for Cutaneous Malignant Melanoma

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20GeneTests
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Genetic tests related to Cutaneous Malignant Melanoma:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma20 MC1R

Anatomical Context for Cutaneous Malignant Melanoma

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33MalaCards
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MalaCards organs/tissues related to Cutaneous Malignant Melanoma:

33
Lymph node, Skin, Breast, Endothelial, Pancreas, T cells, Eye, Thyroid, Bone, Testes

Animal Models for Cutaneous Malignant Melanoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cutaneous Malignant Melanoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.4CDK4, CDKN2A, ASIP, MC1R
2MP:00053798.4HOXA11, ASIP, CCR10, CDKN2A, CDK4
3MP:00107718.3CDK4, CDKN2A, IFNE, CCR10, ASIP, MC1R

Publications for Cutaneous Malignant Melanoma

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52PubMed
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Articles related to Cutaneous Malignant Melanoma:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
Decreased PITX1 gene expression in human cutaneous malignant melanoma and its clinicopathological significance. (23816528)
2013
2
Genetics and epigenetics of cutaneous malignant melanoma: a concert out of tune. (22503822)
2012
3
Value and prognostic significance of mitotic rate in a retrospective series of pT1 cutaneous malignant melanoma patients. (22153914)
2012
4
UVA, UVB and incidence of cutaneous malignant melanoma in Norway and Sweden. (21986949)
2012
5
Birth outcome in women with breast cancer, cutaneous malignant melanoma, or Hodgkin's disease: a review. (21326655)
2011
6
Patterns of GRP78 and MTJ1 expression in primary cutaneous malignant melanoma. (19838160)
2010
7
The feasibility of sentinel lymph node biopsy with a multidisciplinary cooperative team approach for the management of koreans with cutaneous malignant melanoma. (20548877)
2010
8
FOXP3+ cell density in primary tumor has no prognostic impact in patients with cutaneous malignant melanoma. (20306313)
2010
9
Divergent cancer pathways for early onset and late onset cutaneous malignant melanoma: a role for sex-site interaction. (20225335)
2010
10
Multiple metastases from cutaneous malignant melanoma patients may display heterogeneous genomic and epigenomic patterns. (20848731)
2010
11
Epidemiology and clinical and pathologic characteristics of cutaneous malignant melanoma in Abruzzo (Italy). (19570077)
2009
12
Case of cutaneous malignant melanoma surviving 16 years with late recurrence. (19878393)
2009
13
Carbon dioxide laser ablation for the management of in-transit cutaneous malignant melanoma metastases. (18458014)
2008
14
Expression of neutral endopeptidase and motility-related protein-1 in cutaneous malignant melanoma]. (17845760)
2007
15
EGFR gene copy number alterations in primary cutaneous malignant melanomas are associated with poor prognosis. (17594688)
2007
16
Recent trends in cutaneous malignant melanoma in the Yorkshire region of England; incidence, mortality and survival in relation to stage of disease, 1993-2003. (16755289)
2006
17
Polymorphisms of the FAS and FAS ligand genes associated with risk of cutaneous malignant melanoma. (16538172)
2006
18
Regressed cutaneous malignant melanoma mimicking lymphoma: a potential diagnostic pitfall. (16086086)
2005
19
Treatment strategy for cutaneous malignant melanoma. (16247657)
2005
20
The significant threat of patients with cutaneous malignant melanoma to develop ocular melanoma. (15654168)
2005
21
Circulating vascular endothelial growth factor in cutaneous malignant melanoma. (15840099)
2005
22
Sun exposure, phenotypic characteristics, and cutaneous malignant melanoma. An analysis according to different clinico-pathological variants and anatomic locations (Italy). (16132799)
2005
23
Abnormal uterine bleeding as a presenting sign of metastasis to the endometrium in a patient with a history of cutaneous malignant melanoma. (15047246)
2004
24
Effect of pregnancy on survival in women with cutaneous malignant melanoma. (15514378)
2004
25
A beneficial effect of a short-term formal training course in epiluminescence microscopy on the diagnostic performance of dermatologists about cutaneous malignant melanoma. (12877690)
2003
26
Body site of cutaneous malignant melanoma--a study on patients with hereditary and multiple sporadic tumours. (12777983)
2003
27
Ultraviolet radiation and cutaneous malignant melanoma. (12789287)
2003
28
Ganglioneuroblastic differentiation in a primary cutaneous malignant melanoma. (12544099)
2003
29
Clinical and histologic features of level 2 cutaneous malignant melanoma associated with metastasis. (12209764)
2002
30
Trends in incidence of cutaneous malignant melanoma in a Swedish population 1976-1994. (12102157)
2002
31
Population-based study of cutaneous malignant melanoma in the Granada province (Spain), 1985-1992. (11599692)
2001
32
Lectin binding to cutaneous malignant melanoma: HPA is associated with metastasis formation. (11259098)
2001
33
Binding of mistletoe lectins to cutaneous malignant melanoma: implications for prognosis and therapy. (11712781)
2001
34
Site-specific risk of cutaneous malignant melanoma and pattern of sun exposure in New Zealand. (10699940)
2000
35
p21(WAF1/CIP1) expression in stage I cutaneous malignant melanoma: its relationship with p53, cell proliferation and survival. (10070887)
1999
36
Sunlamp use and the risk of cutaneous malignant melanoma: a population-based case-control study in Connecticut, USA. (9839730)
1998
37
HLA-DQB1*0303 and *0301 alleles influence susceptibility to and prognosis in cutaneous malignant melanoma in the British Caucasian population. (9714476)
1998
38
Immunoreactivity of alpha-melanocyte-stimulating hormone, adrenocorticotrophic hormone and beta-endorphin in cutaneous malignant melanoma and benign melanocytic naevi. (9747358)
1998
39
The measurement of constitutive and facultative skin pigmentation and estimation of sun exposure in Caucasians with basal cell carcinoma and cutaneous malignant melanoma. (9892904)
1998
40
Evaluation on serum 2'-5'oligoadenylate synthetase (2'-5'oligoAS) and beta 2 microglobulin (B2M) in patients with nodal metastases from cutaneous malignant melanoma treated with rIFN-alpha 2A. (9677461)
1998
41
Molecular oncogene markers and their significance in cutaneous malignant melanoma. (9607628)
1998
42
Downregulation of transcription factor AP-2 predicts poor survival in stage I cutaneous malignant melanoma. (9817279)
1998
43
Homozygous deletion of the p16INK4a and the p15INK4b tumour suppressor genes in a subset of human sporadic cutaneous malignant melanoma. (9536218)
1998
44
Treatment outcome for 424 primary cases of clinical I cutaneous malignant melanoma of the head and neck. (9278752)
1997
45
Site, histological type, and thickness of primary cutaneous malignant melanoma in western Netherlands since 1980. (9155959)
1997
46
Overexpression of the cyclin-dependent kinase inhibitor p21(WAF1/CIP1) in human cutaneous malignant melanoma. (9194578)
1997
47
Clinical and pathological features of cutaneous malignant melanoma: a retrospective analysis of 124 Japanese patients. (8656554)
1996
48
Morphometric, DNA, and proliferating cell nuclear antigen measurements in benign melanocytic lesions and cutaneous malignant melanoma. (7864299)
1994
49
Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome. (1737497)
1992
50
A Taqi RFLP of the human TGF alpha gene is significantly associated with cutaneous malignant melanoma. (2902017)
1988

Variations for Cutaneous Malignant Melanoma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cutaneous Malignant Melanoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1PIK3CANM_006218.2(PIK3CA): c.1633G> A (p.Glu545Lys)single nucleotide variantPathogenicrs104886003GRCh37Chr 3, 178936091: 178936091

Expression for genes affiliated with Cutaneous Malignant Melanoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cutaneous Malignant Melanoma

Search GEO for disease gene expression data for Cutaneous Malignant Melanoma.

Pathways for genes affiliated with Cutaneous Malignant Melanoma

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50PathCards, 55Reactome, 60Thomson Reuters, 53QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database, 54R&D Systems
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Pathways related to Cutaneous Malignant Melanoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CDKN2A, CDK4
210.0CDK4, CDKN2A
39.9IFNA17, IFNA10
49.9IFNA10, IFNA17
59.9MC1R, ASIP
6
Show member pathways
9.6CDK4, IFNA17, IFNA10
7
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
9.6CDK4, IFNA17, IFNA10
8
Show member pathways
9.4IFNA17, IFNA10, CCR10
99.3IFNA17, IFNA10, IFNW1
108.7IFNW1, IFNA10, IFNA17, IFNK
11
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
8.7IFNW1, IFNA10, IFNA17, IFNK
12
Show member pathways
8.3IFNK, IFNA17, IFNA10, IFNE, IFNW1
13
Show member pathways
Type III interferon signaling38
8.3IFNW1, IFNE, IFNA10, IFNA17, IFNK
14
Show member pathways
7.8CCR10, IFNW1, IFNE, IFNA10, IFNA17, IFNK

Compounds for genes affiliated with Cutaneous Malignant Melanoma

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45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Cutaneous Malignant Melanoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fascaplysin4510.2CDK4, CDKN2A
2phaeomelanin4510.1ASIP, MC1R
3eumelanin4510.0MC1R, ASIP
4alpha msh4510.0ASIP, MC1R
5olomoucine45 1111.0CDK4, CDKN2A
6roscovitine4510.0CDK4, CDKN2A
7hmba459.9CDK4, CDKN2A
8cyclic amp45 2410.4MC1R, ASIP, CDKN2A, CDK4
9alanine459.0HOXA11, MC1R, CDKN2A, CDK4

GO Terms for genes affiliated with Cutaneous Malignant Melanoma

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16Gene Ontology
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Cellular components related to Cutaneous Malignant Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056157.9IFNK, IFNA17, IFNA10, IFNE, IFNW1, ASIP

Biological processes related to Cutaneous Malignant Melanoma according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1regulation of type I interferon-mediated signaling pathwayGO:0603389.9IFNA17, IFNA10
2melanin biosynthetic processGO:0424389.8MC1R, ASIP
3response to virusGO:0096158.8IFNK, IFNA17, IFNW1
4natural killer cell activation involved in immune responseGO:0023238.6IFNK, IFNW1, IFNE, IFNA10, IFNA17
5regulation of MHC class I biosynthetic processGO:0453438.6IFNW1, IFNE, IFNA10, IFNA17, IFNK
6positive regulation of peptidyl-serine phosphorylation of STAT proteinGO:0331418.6IFNW1, IFNE, IFNA10, IFNA17, IFNK
7T cell activation involved in immune responseGO:0022868.5IFNW1, IFNE, IFNA10, IFNA17, IFNK
8B cell proliferationGO:0421008.5IFNK, IFNA17, IFNA10, IFNE, IFNW1
9response to exogenous dsRNAGO:0433308.5IFNW1, IFNE, IFNA10, IFNA17, IFNK
10adaptive immune responseGO:0022508.5IFNW1, IFNE, IFNA10, IFNA17, IFNK
11humoral immune responseGO:0069598.5IFNK, IFNA17, IFNA10, IFNE, IFNW1
12B cell differentiationGO:0301838.4IFNW1, IFNE, IFNA10, IFNA17, IFNK
13defense response to virusGO:0516078.4IFNK, IFNA17, IFNA10, IFNE, IFNW1
14cytokine-mediated signaling pathwayGO:0192218.4IFNW1, IFNE, IFNA10, IFNA17, IFNK
15innate immune responseGO:0450878.3IFNK, IFNA17, IFNA10, IFNE, IFNW1

Molecular functions related to Cutaneous Malignant Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051258.3IFNE, IFNA10, IFNA17, IFNK, IFNW1
2type I interferon receptor bindingGO:0051328.0IFNK, IFNA17, IFNA10, IFNE, IFNW1

Products for genes affiliated with Cutaneous Malignant Melanoma

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Sources for Cutaneous Malignant Melanoma

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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