MCID: MLN008
MIFTS: 63

Melanoma malady

Genetic diseases, Cancer diseases, Rare diseases categories

Summaries for Melanoma

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Sources:
9Disease Ontology, 35MedlinePlus, 47Novus Biologicals, 66Wikipedia, 48OMIM, 34MalaCards
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MedlinePlus:35 Melanoma is the most serious type of skin cancer. often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. most melanomas have a black or black-blue area. melanoma may also appear as a new mole. it may be black, abnormal, or "ugly looking." thinking of "abcde" can help you remember what to watch for: asymmetry - the shape of one half does not match the other border - the edges are ragged, blurred or irregular color - the color is uneven and may include shades of black, brown and tan diameter - there is a change in size, usually an increase evolving - the mole has changed over the past few weeks or months surgery is the first treatment of all stages of melanoma. other treatments include chemotherapy and radiation, biologic, and targeted therapies. biologic therapy boosts your body's own ability to fight cancer. targeted therapy uses substances that attack cancer cells without harming normal cells. nih: national cancer institute

MalaCards: Melanoma, also known as cutaneous melanoma, is related to ocular melanoma and intraocular melanoma. An important gene associated with Melanoma is MFI2 (antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5), and among its related pathways is Immune response IL 23 signaling pathway. The drugs temozolomide and carmustine and the compounds hemocyanin and rantes have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and lymph node, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:9 A cell type cancer that has material basis in abnormally proliferating cells derived from melanocytes which are found in skin, the bowel and the eye.

Novus Biologicals:47 Melanoma is a malignant tumor that results from uncontrolled growth of pigmented cells, called melanocytes. Several types of melanoma exist, including superficial spreading melanoma, nodular melanoma and lentigo melanoma. Melanoma diagnosis is traditionally supported by the presence of the S-100 protein marker and HMB-45, however research has determined the sensitivity and specificity of three novel antibodies as markers for melanoma: Mitf, Melan-A and tyrosinase.

Wikipedia:66 Melanoma (i/?m?l??no?m?/; from Greek ????? melas, \"dark\") is a type of skin cancer, which form from... more...

Description from OMIM:48 155600

Aliases & Classifications for Melanoma

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Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 35MedlinePlus, 32LifeMap Discoveryā„¢, 63UMLS, 36MeSH, 59SNOMED-CT, 41NCIt, 48OMIM, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Cancer diseases, Rare diseases


Aliases & Descriptions:

melanoma 9 11 46 35 32 63
cutaneous melanoma 63
malignant melanoma 9
naevocarcinoma 9


External Ids:

Disease Ontology9 DOID:1909
MeSH36 D008545
NCIt41 C3224
OMIM48 155600
ICD1026 D03.9

Related Diseases for Melanoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Melanoma family:

Familial Melanoma

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

(show top 50)    (show all 616)
idRelated DiseaseScoreTop Affiliating Genes
1ocular melanoma31.7MAGEA1, MAGEA3
2intraocular melanoma31.2MAGEA1, MAGEA3, PMEL
3breast cancer30.9CXCL1, IL24, MAGEA3, MAGEA1, CD63
4leukemia30.7MRPL28, CXCL1, MAGEA3, MAGEA1, CSPG4
5lung cancer30.6CD63, MAGEA1, MAGEA3, IL24
6hepatocellular carcinoma30.4CD63, MAGEA1, MAGEA3
7prostate cancer30.4CD63, IL24, CXCL1, MCAM
8ovarian cancer30.0CXCL1, IL24, MAGEA3, MAGEA1
9influenza30.0MRPL28, PMEL, IL24, MAGEA3
10malignant glioma29.7CSPG4, IL24, MCAM, PMEL
11cutaneous malignant melanoma11.1
12amelanotic melanoma10.9
13choroiditis10.8
14skin melanoma10.8
15lentigo maligna melanoma10.8
16endotheliitis10.8
17acral lentiginous melanoma10.8
18familial melanoma10.8
19posterior uveal melanoma10.7
20sarcoma10.7
21clear cell sarcoma10.7
22superficial spreading melanoma10.6
23dysplastic nevus syndrome10.6
24microphthalmia10.6
25hypoxia10.5
26hepatitis10.5
27renal cell carcinoma10.5
28melanoma of soft parts10.5
29vulvar melanoma10.5
30basal cell carcinoma10.5
31spitz nevus10.5
32vitiligo10.5
33keratosis10.5
34orbital melanoma10.5
35nodular malignant melanoma10.4
36pancreatitis10.4
37burns10.4
38retinitis10.4
39burn scar10.4
40neurocutaneous melanosis10.4
41nevus of ota10.4
42xeroderma pigmentosum10.4
43thyroiditis10.4
44cystic teratoma10.4
45retinoblastoma10.4
46teratoma10.4
47adenocarcinoma10.3
48meningitis10.3
49seborrheic keratosis10.3
50glaucoma10.3

Graphical network of the top 20 diseases related to Melanoma:



Diseases related to melanoma

Symptoms for Melanoma

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Sources:
48OMIM
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Clinical features from OMIM:

155600

Drugs & Therapeutics for Melanoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Genetic Tests for Melanoma

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Anatomical Context for Melanoma

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Sources:
34MalaCards
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MalaCards organs/tissues related to Melanoma:

34
Skin, T cells, Lymph node, Endothelial, Lung, Breast, Eye, Brain, Liver, Testes, Bone, Monocytes, Colon, Testis, Thyroid, Kidney, Prostate, Nk cells, Bone marrow, Pancreas, Myeloid, B cells, Cervix, Ovary, Spinal cord, Pituitary, Small intestine, Pineal, Tongue, Whole blood, Retina, Placenta, Heart, Spleen, Smooth muscle, Adipocyte, Uterus, Adrenal gland

Animal Models for Melanoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Melanoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053769.8SLC45A2, CD63, CSPG4, IL24, IL19, MCAM

Publications for Melanoma

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53PubMed
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Articles related to Melanoma:

(show top 50)    (show all 9835)
idTitleAuthorsYear
1
Relationship between rate of posterior uveal melanoma flattening following plaque radiotherapy and GEP class of tumor cells. (24408979)
2014
2
Thermal sensitisation by lonidamine of human melanoma cells grown at low extracellular pH. (24295212)
2013
3
Melanoma of the sellar region mimicking pituitary adenoma. (22624497)
2013
4
Ocular immune privilege and ocular melanoma: parallel universes or immunological plagiarism? (22707951)
2012
5
RIN1 exhibits oncogenic property to suppress apoptosis and its aberrant accumulation associates with poor prognosis in melanoma. (22627834)
2012
6
PTEN loss confers BRAF inhibitor resistance to melanoma cells through the suppression of BIM expression. (21317224)
2011
7
Increases in serum TARC/CCL17 levels are associated with progression-free survival in advanced melanoma patients in response to dendritic cell-based immunotherapy. (19421847)
2009
8
Novel therapeutics for melanoma. (19496721)
2009
9
MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. (18316599)
2008
10
PP2A activity is controlled by methylation and regulates oncoprotein expression in melanoma cells: a mechanism which participates in growth inhibition induced by chloroethylnitrosourea treatment. (18097542)
2008
11
Human high molecular weight-melanoma-associated antigen: utility for detection of metastatic melanoma in sentinel lymph nodes. (18519770)
2008
12
Polymorphisms of TP53 Arg72Pro, but not p73 G4C14>A4TA4 and p21 Ser31Arg, contribute to risk of cutaneous melanoma. (18049450)
2008
13
Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma. (17970806)
2007
14
Phase I trial of BAY 50-4798, an interleukin-2-specific agonist in advanced melanoma and renal cancer. (17545537)
2007
15
Genetic testing for melanoma predisposition: current challenges. (18025917)
2007
16
Phenotypic and functional changes of human melanoma xenografts induced by DNA hypomethylation: immunotherapeutic implications. (16252259)
2006
17
A collision tumor involving Basal cell carcinoma and lentigo maligna melanoma. (16121053)
2005
18
Effect of exogenous wild-type p53 on melanoma cell death pathways induced by irradiation at different linear energy transfer. (16409115)
2005
19
Transforming growth factor-beta and malignant melanoma: molecular mechanisms. (15953371)
2005
20
Unilateral conjunctival-corneal argyrosis simulating conjunctival melanoma. (14557191)
2003
21
Hypoxia-inducible factors 1alpha and 2alpha are related to vascular endothelial growth factor expression and a poorer prognosis in nodular malignant melanomas of the skin. (14512791)
2003
22
Ultrasound biomicroscopy in management of malignant iris melanoma. (12742854)
2003
23
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
24
Fibroblast growth factor-2 but not Mel-CAM and/or beta3 integrin promotes progression of melanocytes to melanoma. (12823444)
2003
25
Regulation of CD36 expression in human melanoma cells. (12664607)
2002
26
Ribozyme-mediated attenuation of survivin expression sensitizes human melanoma cells to cisplatin-induced apoptosis. (11805141)
2002
27
Tumor necrosis factor-alpha-promoted expression of Bcl-2 and inhibition of mitochondrial cytochrome c release mediate resistance of mature dendritic cells to melanoma-induced apoptosis. (11300499)
2001
28
Cyclin-dependent kinase inhibitory protein expression in human choroidal melanoma tumors. (10967035)
2000
29
T cell immune responses against melanoma and melanocytes in cancer and autoimmunity. (11041376)
2000
30
ML-IAP, a novel inhibitor of apoptosis that is preferentially expressed in human melanomas. (11084335)
2000
31
Expression of epidermal growth factor receptor: risk factor in uveal melanoma. (10892838)
2000
32
Somatic mutations in the Peutz-Jeghers (LKB1/STKII) gene in sporadic malignant melanomas. (10201537)
1999
33
Expression and targeting of the apoptosis inhibitor, survivin, in human melanoma. (10594755)
1999
34
Relation of TNF-related apoptosis-inducing ligand (TRAIL) receptor and FLICE-inhibitory protein expression to TRAIL-induced apoptosis of melanoma. (10364001)
1999
35
Molecular genetics of familial cutaneous melanoma. (9469357)
1998
36
Development of targeted chemoradiotherapy for malignant melanoma by exploitation of metabolic pathway]. (9612704)
1998
37
Contrasting effects of T cell growth factors on T cell responses to melanoma in vitro. (9067406)
1997
38
Dose efficacy study of two schedules of high-dose bolus administration of interleukin 2 and interferon alpha in metastatic melanoma. (8826864)
1996
39
Familial uveal melanoma: absence of germline mutations involving the cyclin-dependent kinase-4 inhibitor gene (p16). (8740697)
1996
40
Interferon system defects in human malignant melanoma. (7664286)
1995
41
Stimulation of glycosphingolipid biosynthesis by L-threo-1-phenyl-2-decanoylamino-1-propanol and its homologs in B16 melanoma cells. (7592537)
1995
42
Transfection of human melanoma cells with type I interleukin-1 (IL-1) receptor cDNA rendered them IL-1-responsive and revealed the importance of ODC activity down-regulation in IL-1-induced growth inhibition. (8576096)
1995
43
Estramustine binding protein in primary tumours and metastases of malignant melanoma. (7703721)
1994
44
Two mechanisms of iron uptake from transferrin by melanoma cells. The effect of desferrioxamine and ferric ammonium citrate. (1629195)
1992
45
Neuron specific enolase (NSE) in serum of patients with malignant melanoma. (2354416)
1990
46
Effects of tumor promoters on adenylate cyclase activity in melanoma cells in culture. (2244938)
1990
47
Paraneoplastic syndromes, tumor markers, and other unusual features of malignant melanoma. (2869074)
1986
48
Malignant melanomas causing Horner's syndrome in a horse. (3948837)
1986
49
Acral lentiginous melanoma in situ. (7122752)
1982
50
Osseous choristoma of the choroid simulating a choroidal melanoma. Association with a positive 32P test. (697626)
1978

Variations for Melanoma

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

1
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
2PIK3CANM_006218.2(PIK3CA): c.1633G> A (p.Glu545Lys)single nucleotide variantPathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
3BRAFNM_004333.4(BRAF): c.1799T> A (p.Val600Glu)single nucleotide variantPathogenicrs113488022GRCh37Chr 7, 140453136: 140453136
4NM_000231.2(SGCG): c.787G> A (p.Glu263Lys)single nucleotide variantPathogenicrs104894423GRCh37Chr 13, 23898591: 23898591
5OTOFNM_194248.2(OTOF): c.2887C> T (p.Arg963Ter)single nucleotide variantPathogenicrs80356595GRCh37Chr 2, 26698886: 26698886
6ADAMTS13NM_139025.4(ADAMTS13): c.1193G> A (p.Arg398His)single nucleotide variantPathogenicrs121908471GRCh37Chr 9, 136298598: 136298598
7SCN11ANM_014139.2(SCN11A): c.673C> T (p.Arg225Cys)single nucleotide variantPathogenicrs138607170GRCh37Chr 3, 38966945: 38966945

Expression for genes affiliated with Melanoma

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

Search GEO for disease gene expression data for Melanoma.

Pathways for genes affiliated with Melanoma

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Melanoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
10.2IL24, IL19, CXCL1

Compounds for genes affiliated with Melanoma

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46Novoseek
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Compounds related to Melanoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hemocyanin4610.2MAGEA3, PMEL
2rantes4610.1CD63, CXCL1, MRPL28
3ethidium bromide4610.0MAGEA1, MAGEA3

GO Terms for genes affiliated with Melanoma

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17Gene Ontology
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Biological processes related to Melanoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:04243810.3SLC45A2, PMEL

Products for genes affiliated with Melanoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Melanoma

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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