MCID: MLG108
MIFTS: 52

Malignant Melanoma, Somatic malady

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

Aliases & Classifications for Malignant Melanoma, Somatic

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Sources:
46OMIM, 8Disease Ontology, 48Orphanet, 61UMLS, 9diseasecard, 22GTR, 42NIH Rare Diseases, 20GeneTests, 39NCIt, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Malignant Melanoma, Somatic:

Name: Malignant Melanoma, Somatic 46
Melanoma, Cutaneous Malignant, 1 9 22
Familial Melanoma 8 48
Melanoma, Cutaneous Malignant 1 46
 
Cutaneous Malignant Melanoma 20
Hereditary Melanoma 61
Melanoma, Familial 42
Cutaneous Melanoma 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial melanoma:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult


External Ids:

OMIM46 155600
Disease Ontology8 DOID:6846
NCIt39 C8498
Orphanet48 618
ICD10 via Orphanet26 C43

Summaries for Malignant Melanoma, Somatic

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OMIM:46 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.

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:

 48 (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:00011868.9PTEN, MC1R, CDKN2A, SLC45A2
2MP:00053678.6CDKN2B, CDK4, PTEN, STK11
3MP:00053708.5PTEN, STK11, CDK4, CDKN2A
4MP:00053888.4CDKN2A, PTEN, CDKN2D, STK11
5MP:00053818.3PTEN, STK11, CDKN2A, TERT, CDK4
6MP:00053698.2PTEN, STK11, CDK4, CDKN2D, CDKN2A
7MP:00053808.1POT1, STK11, CDKN2A, CDK4, PTEN
8MP:00030128.1MC1R, POT1, STK11, CDKN2A, CDKN2B
9MP:00053917.9CDKN2D, CDK4, CDKN2A, STK11, PTEN, SLC45A2
10MP:00053977.8TERT, CDKN2B, PTEN, STK11, CDKN2A, CDK4
11MP:00053877.7CDKN2B, CDK4, CDKN2A, STK11, PTEN, TERT
12MP:00107717.7STK11, CDKN2A, CDK4, CDKN2B, SLC45A2, MC1R
13MP:00053867.5SLC45A2, CDK4, CDKN2A, STK11, MC1R, CDKN2D
14MP:00036317.5PTEN, CDK4, CDKN2D, CDKN2A, STK11, TERT
15MP:00053797.3PTEN, STK11, CDKN2A, CDKN2D, CDK4, CDKN2B
16MP:00053787.1SLC45A2, TERT, PTEN, MC1R, STK11, CDKN2A
17MP:00053897.0CDK4, CDKN2D, CDKN2A, STK11, PTEN, SLC45A2
18MP:00053767.0TERT, PTEN, STK11, CDKN2A, CDKN2D, CDK4
19MP:00020067.0TERT, PTEN, MC1R, STK11, CDKN2A, CDKN2D
20MP:00107686.7POT1, STK11, CDKN2A, CDKN2D, CDKN2B, TERT
21MP:00053846.4CDKN2A, CDK4, CDKN2B, CDKN2D, TERT, STK11

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:

5
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:

6 (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
9.6TERT, CDK4
2
Show member pathways
9.5POT1, TERT
39.5POT1, TERT
49.4STK11, CDK4, PTEN
59.4CDK4, PTEN, STK11
69.2CDK4, CDKN2A
79.2PTEN, CDK4, CDKN2B
88.9CDKN2A, CDK4, PTEN
9
Show member pathways
DNA damage response36
8.9CDKN2A, PTEN, CDK4
108.9CDKN2B, STK11, PTEN, CDK4
11
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation59
8.7CDKN2B, CDK4, CDKN2A
128.7CDKN2B, CDK4, CDKN2A
13
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
8.7PTEN, STK11, CDKN2B, CDKN2D
148.4CDKN2A, PTEN, CDKN2B, CDK4
15
Show member pathways
Signaling Pathways in Glioblastoma36
8.4CDKN2A, CDKN2B, CDK4, PTEN
16
Show member pathways
8.4PTEN, POT1, CDKN2A, TERT
178.3CDKN2B, CDK4, CDKN2A, TERT
188.1CDKN2B, CDKN2A, CDKN2D, CDK4
19
Show member pathways
8.1CDK4, CDKN2B, CDKN2D, CDKN2A
20
Show member pathways
8.1CDKN2B, CDK4, CDKN2A, CDKN2D
21
Show member pathways
Cell cycle36
8.1CDKN2D, CDKN2B, CDK4, CDKN2A
22
Show member pathways
8.1CDKN2D, CDKN2A, CDK4, CDKN2B
23
Show member pathways
7.6POT1, CDKN2A, CDKN2D, CDK4, CDKN2B
24
Show member pathways
7.5PTEN, CDKN2D, CDKN2A, CDKN2B, STK11, CDK4
25
Show member pathways
7.1TERT, POT1, CDK4, CDKN2B, CDKN2D, CDKN2A

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 108944 6011.0PTEN, CDK4
2tin(2+)449.9POT1, TERT
3indole-3-carbinol449.8CDK4, PTEN
4fascaplysin449.7CDK4, CDKN2A
5ceramide449.6TERT, PTEN, CDK4
6calcitriol44 60 24 1112.6PTEN, TERT, CDK4
7tgf beta1449.6CDKN2B, PTEN, CDK4
8olomoucine44 1110.6CDKN2A, CDK4
9hmba449.5CDK4, CDKN2A
10vitamin d449.5PTEN, CDK4, MC1R
11crcs449.5CDKN2A, PTEN
12sodium bisulfite449.5CDKN2B, CDKN2A
135-methylthioadenosine449.4CDKN2A, CDKN2B
14rapamycin449.4CDK4, STK11, PTEN, TERT
15o6-methylguanine449.4CDKN2B, CDKN2A
16lovastatin44 50 60 28 1113.3CDKN2A, CDK4, PTEN
17agar449.2CDK4, CDKN2A, PTEN
185-methylcytosine44 2410.2STK11, CDKN2A, CDKN2B
19ly294002449.2TERT, PTEN, CDK4
20pd 98,059449.2TERT, CDKN2B, CDK4, PTEN
21thymidylate449.2CDK4, CDKN2A, TERT
22camptothecin44 60 1111.2CDKN2A, CDK4, TERT
23egcg449.2CDKN2A, CDK4, TERT
24n acetylcysteine449.0CDKN2A, TERT, CDK4
25butyrate449.0TERT, CDK4, CDKN2A
265fluorouracil448.9CDKN2A, CDK4, PTEN, TERT
27paclitaxel44 50 1110.9CDK4, CDKN2A, TERT, PTEN
28doxorubicin44 50 1110.9TERT, CDKN2A, PTEN, CDK4
29genistein44 28 60 1 24 1113.9PTEN, TERT, CDK4, CDKN2A
30h2o2448.9PTEN, CDKN2A, MC1R, TERT
31cisplatin44 50 60 1111.9PTEN, TERT, CDK4, CDKN2A
32arsenite44 249.8CDKN2A, CDKN2B, TERT, PTEN
33testosterone44 60 24 1111.8TERT, CDKN2A, CDK4, PTEN
34arginine448.8CDK4, TERT, CDKN2A, PTEN
35nitric oxide44 24 1110.7CDK4, CDKN2A, TERT, PTEN
36cyclic amp44 249.7STK11, PTEN, CDK4, CDKN2A, MC1R
37alanine448.6CDK4, MC1R, PTEN, CDKN2A, STK11
38atp44 289.6STK11, PTEN, CDK4, CDKN2A
39glucose448.6CDKN2A, CDK4, STK11, PTEN
40paraffin448.6STK11, CDKN2A, PTEN, TERT, CDK4
41vegf448.6CDK4, PTEN, TERT, STK11, CDKN2A
42oxygen44 249.5TERT, PTEN, STK11, CDKN2A, CDK4
435-aza-2deoxycytidine448.5CDKN2B, CDKN2A, STK11, PTEN, TERT
44oligonucleotide448.4TERT, POT1, CDKN2A, CDK4, PTEN
45estrogen448.4CDK4, PTEN, TERT, CDKN2A, CDKN2B
46retinoic acid44 249.4CDKN2A, PTEN, CDKN2B, CDK4, TERT
47cysteine448.2TERT, PTEN, CDKN2A, CDK4
48calcium44 50 24 1111.1CDK4, MC1R, TERT, PTEN, STK11, CDKN2A
49threonine448.1STK11, CDK4, TERT, CDKN2A, CDKN2B, PTEN
50serine447.7CDKN2A, STK11, MC1R, PTEN, CDKN2B, TERT

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

Sources for Malignant Melanoma, Somatic

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet