MCID: MLG108
MIFTS: 52

Malignant Melanoma, Somatic malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Summaries for Malignant Melanoma, Somatic

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OMIM:45 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but... (155600) more...

MalaCards based summary: Malignant Melanoma, Somatic, also known as melanoma, cutaneous malignant, 1, is related to breast cancer and melanoma, and has symptoms including melanoma, dry skin and freckling. An important gene associated with Malignant Melanoma, Somatic is PTEN (phosphatase and tensin homolog), and among its related pathways are Telomere C-strand (Lagging Strand) Synthesis and Telomere Extension By Telomerase. The compounds eb 1089 and tin(2+) have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and pancreas, and related mouse phenotypes are pigmentation and renal/urinary system.

Aliases & Classifications for Malignant Melanoma, Somatic

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Sources:
45OMIM, 9Disease Ontology, 47Orphanet, 60UMLS, 10diseasecard, 22GTR, 41NIH Rare Diseases, 20GeneTests, 38NCIt, 26ICD10 via Orphanet
See all sources

Malignant Melanoma, Somatic, Aliases & Descriptions:

Name: Malignant Melanoma, Somatic 45
Melanoma, Cutaneous Malignant, 1 10 22
Familial Melanoma 9 47
Melanoma, Cutaneous Malignant 1 45
 
Cutaneous Malignant Melanoma 20
Hereditary Melanoma 60
Melanoma, Familial 41
Cutaneous Melanoma 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial melanoma:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult


External Ids:

OMIM45 155600
Disease Ontology9 DOID:6846
NCIt38 C8498
Orphanet47 618
ICD10 via Orphanet26 C43

Related Diseases for Malignant Melanoma, Somatic

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Diseases related to Malignant Melanoma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer30.4CDK4, STK11, PTEN, TERT
2melanoma30.1SLC45A2, TERT, PTEN, MC1R, STK11, CDKN2A
3pancreatic cancer30.0TERT, STK11, CDKN2A, CDK4
4uveal melanoma29.9MC1R, CDKN2A, CDK4
5astrocytoma29.3PTEN, STK11, CDKN2A, CDK4, CDKN2B
6gliomatosis cerebri10.5PTEN
7basal cell carcinoma10.5
8choroiditis10.4
9atypical mole syndrome10.4
10cdkn2a-related cutaneous malignant melanoma10.4
11cdk4-related cutaneous malignant melanoma10.4
12endotheliitis10.4
13polyposis, juvenile intestinal10.4STK11, PTEN
14cowden disease10.3STK11, PTEN
15albinism10.3MC1R, SLC45A2
16oculocutaneous albinism10.3MC1R, SLC45A2
17peutz-jeghers syndrome10.3STK11, PTEN
18lipoma10.3PTEN, CDK4
19pancreatitis10.3
20gliosarcoma10.3CDK4, PTEN
21ependymoma10.3CDKN2B
22pilocytic astrocytoma10.3PTEN, CDK4
23thyroid cancer, anaplastic10.2TERT, PTEN
24li-fraumeni syndrome10.1CDKN2A, PTEN
25melanoma, cutaneous malignant 810.1
26celiac disease10.1
27melanoma, cutaneous malignant, 210.1
28melanoma, cutaneous malignant, 610.1
29neurofibromatosis, type 110.1
30melanoma metastasis10.1
31mycosis fungoides10.1
32neurofibromatosis10.1
33lichen planus10.1
34clear cell sarcoma10.1
35gastroduodenitis10.1
36angiolipoma10.1
37breast disease10.1
38embryonal rhabdomyosarcoma10.1
39hypopyon10.1
40intestinal perforation10.1
41learning disability10.1
42leiomyoma10.1
43night blindness10.1
44psoriasis10.1
45retinitis10.1
46rhabdomyosarcoma10.1
47sarcoma10.1
48thyroid cancer10.1
49thyroiditis10.1
50giant congenital nevus10.1

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



Diseases related to malignant melanoma, somatic

Symptoms for Malignant Melanoma, Somatic

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Symptoms by clinical synopsis from OMIM:

155600

Clinical features from OMIM:

155600

Symptoms:

 47 (show all 12)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • melanoma
  • dry/squaly skin/exfoliation
  • excessive freckling
  • hair and scalp anomalies
  • anomalies of the lymphatic system
  • retinopathy
  • extrapyramidal syndrome
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • breast neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance

HPO human phenotypes related to Malignant Melanoma, Somatic:

(show all 16)
id Description Frequency HPO Source Accession
1 melanoma hallmark (90%) HP:0002861
2 dry skin typical (50%) HP:0000958
3 freckling typical (50%) HP:0001480
4 abnormality of the lymphatic system typical (50%) HP:0100763
5 retinopathy occasional (7.5%) HP:0000488
6 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
7 neoplasm of the pancreas occasional (7.5%) HP:0002894
8 neoplasm of the stomach occasional (7.5%) HP:0006753
9 neoplasm of the breast occasional (7.5%) HP:0100013
10 autosomal dominant inheritance HP:0000006
11 abnormality of the eye HP:0000478
12 numerous nevi HP:0001054
13 atypical nevi (>5mm with irregular edge and pigmentation) HP:0001062
14 atypical nevi in non-sun exposed areas HP:0001074
15 intraocular melanoma HP:0007716
16 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Malignant Melanoma, Somatic

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Drug clinical trials:

Search ClinicalTrials for Malignant Melanoma, Somatic

Search NIH Clinical Center for Malignant Melanoma, Somatic

Genetic Tests for Malignant Melanoma, Somatic

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Genetic tests related to Malignant Melanoma, Somatic:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma20 MC1R
2 Cutaneous Malignant Melanoma 122

Anatomical Context for Malignant Melanoma, Somatic

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MalaCards organs/tissues related to Malignant Melanoma, Somatic:

31
Skin, Eye, Pancreas, Breast

Animal Models for Malignant Melanoma, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Malignant Melanoma, Somatic:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9SLC45A2, CDKN2A, MC1R, PTEN
2MP:00053678.6PTEN, STK11, CDK4, CDKN2B
3MP:00053708.5CDK4, CDKN2A, STK11, PTEN
4MP:00053888.4CDKN2D, CDKN2A, STK11, PTEN
5MP:00053818.3CDK4, CDKN2A, STK11, PTEN, TERT
6MP:00053698.2PTEN, STK11, CDKN2A, CDKN2D, CDK4
7MP:00053808.1PTEN, POT1, STK11, CDKN2A, CDK4
8MP:00030128.1MC1R, POT1, STK11, CDKN2A, CDKN2B
9MP:00053917.9PTEN, STK11, CDKN2A, CDKN2D, CDK4, SLC45A2
10MP:00053977.8TERT, PTEN, STK11, CDKN2A, CDK4, CDKN2B
11MP:00053877.7TERT, PTEN, STK11, CDKN2A, CDK4, CDKN2B
12MP:00107717.7PTEN, MC1R, STK11, CDKN2A, CDK4, CDKN2B
13MP:00053867.5PTEN, MC1R, STK11, CDKN2A, CDKN2D, CDK4
14MP:00036317.5TERT, PTEN, STK11, CDKN2A, CDKN2D, CDK4
15MP:00053797.3TERT, PTEN, STK11, CDKN2A, CDKN2D, CDK4
16MP:00053787.1TERT, PTEN, MC1R, STK11, CDKN2A, CDKN2D
17MP:00053897.0TERT, PTEN, STK11, CDKN2A, CDKN2D, CDK4
18MP:00053767.0TERT, PTEN, STK11, CDKN2A, CDKN2D, CDK4
19MP:00020067.0CDKN2B, TERT, PTEN, MC1R, STK11, CDKN2A
20MP:00107686.7TERT, PTEN, POT1, STK11, CDKN2A, CDKN2D
21MP:00053846.4TERT, PTEN, MC1R, POT1, STK11, CDKN2A

Publications for Malignant Melanoma, Somatic

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Variations for Malignant Melanoma, Somatic

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Clinvar genetic disease variations for Malignant Melanoma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.252C> A (p.Asp84Glu)single nucleotide variantrisk factorrs1805006GRCh37Chr 16, 89985918: 89985918
2CDK4NM_000075.3(CDK4): c.70C> T (p.Arg24Cys)single nucleotide variantrisk factorrs11547328GRCh37Chr 12, 58145431: 58145431
3CDK4NM_000075.3(CDK4): c.71G> A (p.Arg24His)single nucleotide variantrisk factorrs104894340GRCh37Chr 12, 58145430: 58145430
4TERTTERT, -57, T-Gsingle nucleotide variantrisk factor
5SLC45A2NM_016180.3(SLC45A2): c.1122C> G (p.Phe374Leu)single nucleotide variantPathogenic, protectivers16891982GRCh37Chr 5, 33951693: 33951693
6STK11NM_000455.4(STK11): c.580G> T (p.Asp194Tyr)single nucleotide variantPathogenicrs121913315GRCh37Chr 19, 1220487: 1220487
7STK11NM_000455.4(STK11): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs121913323GRCh37Chr 19, 1220415: 1220415
8STK11NM_000455.4(STK11): c.145T> G (p.Tyr49Asp)single nucleotide variantPathogenicrs137853080GRCh37Chr 19, 1207057: 1207057
9STK11NM_000455.4(STK11): c.403G> C (p.Gly135Arg)single nucleotide variantPathogenicrs137853081GRCh37Chr 19, 1219351: 1219351
10NM_001100119.1(XRCC3): c.722C> T (p.Thr241Met)single nucleotide variantrisk factorrs861539GRCh37Chr 14, 104165753: 104165753

Cosmic variations for Malignant Melanoma, Somatic:

7 (show all 30)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
11125BRAFskin,ear,malignant melanoma,NS3
21131BRAFskin,ear,malignant melanoma,NS3
3476BRAFskin,ear,malignant melanoma,NS3
4478BRAFskin,ear,malignant melanoma,NS3
527639BRAFskin,ear,malignant melanoma,NS3
6471BRAFskin,ear,malignant melanoma,NS3
7109660GRIN2Askin,ear,malignant melanoma,NS3
8110485GRIN2Askin,ear,malignant melanoma,NS3
9327818GRIN2Askin,ear,malignant melanoma,NS3
10327817GRIN2Askin,ear,malignant melanoma,NS3
11580NRASskin,ear,malignant melanoma,NS3
1236378NRASskin,ear,malignant melanoma,NS3
1333693NRASskin,ear,malignant melanoma,NS3
14192176KDRskin,ear,malignant melanoma,NS3
15327838KDRskin,ear,malignant melanoma,NS3
16327803FLT4skin,ear,malignant melanoma,NS3
17327796EPHB2skin,ear,malignant melanoma,NS3
18327766APCskin,ear,malignant melanoma,NS3
19327771ATRskin,ear,malignant melanoma,NS3
20327772AXLskin,ear,malignant melanoma,NS3
2152969GNA11skin,eye,malignant melanoma,NS3
22327797EPHB6skin,ear,malignant melanoma,NS3
23327836IRAK3skin,ear,malignant melanoma,NS3
2423653PTENskin,ear,malignant melanoma,NS3
25327871PTK7skin,ear,malignant melanoma,NS3
26125734RAC1skin,ear,malignant melanoma,NS3
27327869PIK3CBskin,ear,malignant melanoma,NS3
28327842KRASskin,ear,malignant melanoma,NS3
29327862NRKskin,ear,malignant melanoma,NS3
3025340SATB1skin,ear,malignant melanoma,NS3

Expression for genes affiliated with Malignant Melanoma, Somatic

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Search GEO for disease gene expression data for Malignant Melanoma, Somatic.

Pathways for genes affiliated with Malignant Melanoma, Somatic

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Pathways related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CDK4, TERT
2
Show member pathways
9.5POT1, TERT
39.5POT1, TERT
49.4PTEN, STK11, CDK4
59.4CDK4, STK11, PTEN
69.2CDKN2A, CDK4
79.2PTEN, CDK4, CDKN2B
88.9PTEN, CDKN2A, CDK4
9
Show member pathways
DNA damage response36
8.9CDK4, CDKN2A, PTEN
108.9CDKN2B, CDK4, STK11, PTEN
11
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation58
8.7CDKN2B, CDK4, CDKN2A
128.7CDKN2A, CDK4, CDKN2B
13
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.7PTEN, STK11, CDKN2D, CDKN2B
148.4PTEN, CDKN2A, CDK4, CDKN2B
15
Show member pathways
Signaling Pathways in Glioblastoma36
8.4PTEN, CDKN2A, CDK4, CDKN2B
16
Show member pathways
8.4CDKN2A, POT1, PTEN, TERT
178.3TERT, CDKN2A, CDK4, CDKN2B
188.1CDKN2B, CDK4, CDKN2D, CDKN2A
19
Show member pathways
8.1CDKN2B, CDK4, CDKN2D, CDKN2A
20
Show member pathways
8.1CDKN2B, CDK4, CDKN2D, CDKN2A
21
Show member pathways
Cell cycle36
8.1CDKN2A, CDKN2D, CDK4, CDKN2B
22
Show member pathways
8.1CDKN2A, CDKN2D, CDK4, CDKN2B
23
Show member pathways
7.6POT1, CDKN2A, CDKN2D, CDK4, CDKN2B
24
Show member pathways
7.5PTEN, STK11, CDKN2A, CDKN2D, CDK4, CDKN2B
25
Show member pathways
7.1TERT, POT1, CDKN2A, CDKN2D, CDK4, CDKN2B

Compounds for genes affiliated with Malignant Melanoma, Somatic

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Compounds related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1eb 108943 5911.0CDK4, PTEN
2tin(2+)439.9TERT, POT1
3indole-3-carbinol439.8PTEN, CDK4
4fascaplysin439.7CDK4, CDKN2A
5ceramide439.6CDK4, PTEN, TERT
6calcitriol43 59 24 1212.6CDK4, PTEN, TERT
7tgf beta1439.6CDKN2B, CDK4, PTEN
8olomoucine43 1210.6CDKN2A, CDK4
9hmba439.5CDK4, CDKN2A
10vitamin d439.5CDK4, MC1R, PTEN
11crcs439.5PTEN, CDKN2A
12sodium bisulfite439.5CDKN2A, CDKN2B
135-methylthioadenosine439.4CDKN2B, CDKN2A
14rapamycin439.4TERT, PTEN, STK11, CDK4
15o6-methylguanine439.4CDKN2A, CDKN2B
16lovastatin43 49 59 28 1213.3PTEN, CDKN2A, CDK4
17agar439.2PTEN, CDKN2A, CDK4
185-methylcytosine43 2410.2STK11, CDKN2A, CDKN2B
19ly294002439.2TERT, PTEN, CDK4
20pd 98,059439.2CDKN2B, CDK4, PTEN, TERT
21thymidylate439.2CDK4, CDKN2A, TERT
22camptothecin43 59 1211.2CDK4, CDKN2A, TERT
23egcg439.2TERT, CDKN2A, CDK4
24n acetylcysteine439.0TERT, CDKN2A, CDK4
25butyrate439.0CDK4, CDKN2A, TERT
265fluorouracil438.9TERT, PTEN, CDKN2A, CDK4
27paclitaxel43 49 1210.9CDK4, CDKN2A, PTEN, TERT
28doxorubicin43 49 1210.9TERT, PTEN, CDKN2A, CDK4
29genistein43 28 59 2 24 1213.9CDK4, CDKN2A, PTEN, TERT
30h2o2438.9CDKN2A, MC1R, PTEN, TERT
31cisplatin43 49 59 1211.9TERT, PTEN, CDKN2A, CDK4
32arsenite43 249.8CDKN2B, CDKN2A, PTEN, TERT
33testosterone43 59 24 1211.8TERT, PTEN, CDKN2A, CDK4
34arginine438.8TERT, PTEN, CDKN2A, CDK4
35nitric oxide43 24 1210.7CDK4, CDKN2A, PTEN, TERT
36cyclic amp43 249.7PTEN, MC1R, STK11, CDKN2A, CDK4
37alanine438.6PTEN, MC1R, STK11, CDKN2A, CDK4
38atp43 289.6CDK4, CDKN2A, STK11, PTEN
39glucose438.6CDK4, CDKN2A, STK11, PTEN
40paraffin438.6TERT, PTEN, STK11, CDKN2A, CDK4
41vegf438.6TERT, PTEN, STK11, CDKN2A, CDK4
42oxygen43 249.5CDK4, CDKN2A, STK11, PTEN, TERT
435-aza-2deoxycytidine438.5CDKN2B, CDKN2A, STK11, PTEN, TERT
44oligonucleotide438.4TERT, PTEN, POT1, CDKN2A, CDK4
45estrogen438.4TERT, PTEN, CDKN2A, CDK4, CDKN2B
46retinoic acid43 249.4TERT, PTEN, CDKN2A, CDK4, CDKN2B
47cysteine438.2CDK4, CDKN2A, PTEN, TERT
48calcium43 49 24 1211.1TERT, PTEN, MC1R, STK11, CDKN2A, CDK4
49threonine438.1TERT, PTEN, STK11, CDKN2A, CDK4, CDKN2B
50serine437.7TERT, PTEN, MC1R, STK11, CDKN2A, CDK4

GO Terms for genes affiliated with Malignant Melanoma, Somatic

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Cellular components related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear telomere cap complexGO:00007839.6POT1, TERT
2chromosome, telomeric regionGO:00007819.2POT1, TERT
3nucleoplasmGO:00056548.3CDK4, CDKN2A, POT1, TERT
4nucleolusGO:00057308.0TERT, PTEN, CDKN2A, CDK4, CDKN2B
5cytosolGO:00058297.6PTEN, STK11, CDKN2A, CDKN2D, CDK4, CDKN2B
6cytoplasmGO:00057377.0TERT, PTEN, POT1, STK11, CDKN2A, CDKN2D
7nucleusGO:00056346.8PTEN, POT1, STK11, CDKN2A, CDKN2D, CDK4

Biological processes related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1melanin biosynthetic processGO:004243810.0MC1R, SLC45A2
2telomere formation via telomeraseGO:00322039.8POT1, TERT
3negative regulation of G1/S transition of mitotic cell cycleGO:020001349.7CDKN2B, PTEN
4telomere maintenance via telomeraseGO:00070049.7TERT, POT1
5positive regulation of transforming growth factor beta receptor signaling pathwayGO:00305119.6CDKN2B, STK11
6telomere maintenanceGO:00007239.5POT1, TERT
7negative regulation of protein serine/threonine kinase activityGO:00719019.5CDKN2B, CDKN2D
8replicative senescenceGO:00903999.4TERT, CDKN2A
9negative regulation of epithelial cell proliferationGO:00506809.4CDKN2B, PTEN
10regulation of cyclin-dependent protein serine/threonine kinase activityGO:00000799.3PTEN, CDKN2D, CDKN2B
11regulation of protein stabilityGO:00316479.3PTEN, CDKN2A
12negative regulation of cell growthGO:00303088.9CDKN2D, CDKN2A, STK11
13negative regulation of phosphorylationGO:00423268.8CDKN2A, CDKN2D, CDKN2B
14G1/S transition of mitotic cell cycleGO:00000828.7CDKN2A, CDKN2D, CDK4
15cell cycle arrestGO:00070508.5STK11, CDKN2A, CDKN2D, CDKN2B
16mitotic cell cycleGO:00002788.4CDKN2B, CDK4, CDKN2D, CDKN2A
17negative regulation of cell proliferationGO:00082858.2CDKN2B, CDKN2D, CDKN2A, STK11, PTEN

Molecular functions related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.3CDKN2A, STK11
2cyclin-dependent protein serine/threonine kinase inhibitor activityGO:00048618.5CDKN2B, CDKN2D, CDKN2A
3protein kinase bindingGO:00199017.9PTEN, CDKN2A, CDKN2D, CDKN2B
4protein bindingGO:00055156.0TERT, PTEN, MC1R, POT1, STK11, CDKN2A

Products for genes affiliated with Malignant Melanoma, Somatic

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Sources for Malignant Melanoma, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet