MCID: MLN043
MIFTS: 36

Melanoma, Cutaneous Malignant 8

Categories: Genetic diseases, Rare diseases, Skin diseases, Nephrological diseases, Cancer diseases

Aliases & Classifications for Melanoma, Cutaneous Malignant 8

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 8:

Name: Melanoma, Cutaneous Malignant 8 54 54 71
Cutaneous Malignant Melanoma 8 71 29
Mitf-Related Melanoma and Renal Cell Carcinoma Predisposition Syndrome 56
Susceptibility to Melanoma and Renal Cell Carcinoma 71
Skin/hair/eye Pigmentation, Variation in, 3 29
Cmm8 71

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
melanoma, cutaneous malignant 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Orphanet 56 ORPHA293822
MedGen 40 C3152204
MeSH 42 D008545

Summaries for Melanoma, Cutaneous Malignant 8

OMIM : 54
Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see CMM1 (155600). (614456)

MalaCards based summary : Melanoma, Cutaneous Malignant 8, also known as cutaneous malignant melanoma 8, is related to mitf-related susceptibility to cutaneous malignant melanoma and tietz albinism-deafness syndrome, and has symptoms including cutaneous melanoma and renal cell carcinoma. An important gene associated with Melanoma, Cutaneous Malignant 8 is MITF (Melanogenesis Associated Transcription Factor), and among its related pathways/superpathways is Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. The drugs Aldesleukin and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotype is pigmentation.

UniProtKB/Swiss-Prot : 71 Melanoma, cutaneous malignant 8: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

Related Diseases for Melanoma, Cutaneous Malignant 8

Diseases in the Melanoma, Cutaneous Malignant 8 family:

Melanoma, Cutaneous Malignant, 9 Melanoma, Cutaneous Malignant 10
Melanoma, Cutaneous Malignant, 2 Melanoma, Cutaneous Malignant, 3
Melanoma, Cutaneous Malignant, 6 Melanoma, Cutaneous Malignant, 5
Cdk4-Related Cutaneous Malignant Melanoma Cdkn2a-Related Cutaneous Malignant Melanoma
Mc1r-Related Cutaneous Malignant Melanoma Mitf-Related Susceptibility to Cutaneous Malignant Melanoma
Pot1-Related Susceptibility to Cutaneous Malignant Melanoma Tert-Related Cutaneous Malignant Melanoma
Xrcc3-Related Cutaneous Malignant Melanoma

Diseases related to Melanoma, Cutaneous Malignant 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 mitf-related susceptibility to cutaneous malignant melanoma 10.8
2 tietz albinism-deafness syndrome 9.9 MITF TYR
3 commad syndrome 9.9 MITF TYR
4 sebaceous basal cell carcinoma 9.8 MITF TYR
5 schnitzler syndrome 9.8 MITF TYR
6 fallopian tube serous papilloma 9.8 MITF TYR
7 thyroid angiosarcoma 9.8 MITF TYR
8 acute hydrops keratoconus 9.8 MITF TYR
9 epidermolysis bullosa simplex-mcr 9.8 MITF TYR
10 autism susceptibility 16 9.8 MITF TYR
11 rh deficiency syndrome 9.8 MITF TYR
12 gangliosidosis gm2 9.8 MITF TYR
13 dyschromatosis symmetrica hereditaria 9.7 MITF TYR
14 heavy chain disease 9.7 MITF TYR
15 autoinflammation with arthritis and dyskeratosis 9.7 MITF TYR
16 collagenopathy, types ii and xi 9.7 MITF TYR
17 atrophic gastritis 9.7 MITF TYR
18 brown-vialetto-van laere syndrome 9.6 MITF TYR
19 tyrosinemia 9.6 MITF TYR
20 telangiectatic glomangioma 9.5 MITF TYR
21 partial optic atrophy 9.4 MITF TYR
22 sex cord-gonadal stromal tumor 9.2 MITF TYR

Graphical network of the top 20 diseases related to Melanoma, Cutaneous Malignant 8:



Diseases related to Melanoma, Cutaneous Malignant 8

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 8

Clinical features from OMIM:

614456 601800

Human phenotypes related to Melanoma, Cutaneous Malignant 8:

32
id Description HPO Frequency HPO Source Accession
1 cutaneous melanoma 32 HP:0012056
2 renal cell carcinoma 32 HP:0005584

MGI Mouse Phenotypes related to Melanoma, Cutaneous Malignant 8:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 MITF TYR

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 8

Drugs for Melanoma, Cutaneous Malignant 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 3,Phase 2 85898-30-2, 110942-02-4
2 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
3 Analgesics Phase 3,Phase 2
4 Analgesics, Non-Narcotic Phase 3,Phase 2
5 Anti-HIV Agents Phase 3,Phase 2
6 Anti-Infective Agents Phase 3,Phase 2,Phase 1
7 Anti-Retroviral Agents Phase 3,Phase 2
8 Antiviral Agents Phase 3,Phase 2
9 Freund's Adjuvant Phase 3,Phase 2,Phase 1
10 Interleukin-2 Phase 3,Phase 2
11 Peripheral Nervous System Agents Phase 3,Phase 2
12 Vaccines Phase 3,Phase 2,Phase 1
13 Antibodies Phase 3,Phase 2,Phase 1
14 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
15 Immunoglobulins Phase 3,Phase 2,Phase 1
16 Interferon-alpha Phase 3,Phase 2
17 interferons Phase 3,Phase 2,Phase 1
18
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
19
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
20
Bevacizumab Approved, Investigational Phase 2,Phase 1 216974-75-3
21
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
22
Everolimus Approved Phase 2 159351-69-6 6442177
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
25
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
26
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
27
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
28
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
29
Vidarabine Approved Phase 2 24356-66-9 32326 21704
30
Imiquimod Approved, Investigational Phase 2,Phase 1 99011-02-6 57469
31
Nintedanib Approved Phase 1, Phase 2 656247-17-5 56843413
32
nivolumab Approved Phase 2,Phase 1 946414-94-4
33
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
34
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
35
Daclizumab Approved, Investigational Phase 2 152923-56-3
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
37
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
38
Nicotinamide Approved, Nutraceutical Phase 2 98-92-0 936
39
Vatalanib Investigational Phase 2 212141-54-3 151194
40
Tremelimumab Investigational Phase 1, Phase 2 745013-59-6
41
Imidazole Experimental Phase 2 288-32-4 795
42 Protein Kinase Inhibitors Phase 2,Phase 1
43 Alkylating Agents Phase 2,Phase 1
44 Angiogenesis Inhibitors Phase 2,Phase 1
45 Angiogenesis Modulating Agents Phase 2,Phase 1
46 Endothelial Growth Factors Phase 2,Phase 1
47 Micronutrients Phase 2
48 Mitogens Phase 2,Phase 1
49 Nicotinic Acids Phase 2
50 Trace Elements Phase 2

Interventional clinical trials:

(show all 48)

id Name Status NCT ID Phase Drugs
1 Aldesleukin With or Without Vaccine Therapy in Treating Patients With Locally Advanced or Metastatic Melanoma Completed NCT00019682 Phase 3 Montanide ISA 51 VG
2 A Study of Vemurafenib Adjuvant Therapy in Participants With Surgically Resected Cutaneous BRAF-Mutant Melanoma Active, not recruiting NCT01667419 Phase 3 Vemurafenib;Placebo
3 Ipilimumab or High-Dose Interferon Alfa-2b in Treating Patients With High-Risk Stage III-IV Melanoma That Has Been Removed by Surgery Active, not recruiting NCT01274338 Phase 3
4 Vatalanib in Treating Patients With Metastatic Cutaneous Melanoma That Cannot be Removed by Surgery Completed NCT00563823 Phase 2 vatalanib
5 Phase II Study Incorporating Pegylated Interferon In the Treatment For Children With High-Risk Melanoma Completed NCT00539591 Phase 2 Peginterferon alfa-2b;Temozolomide;Recombinant interferon alfa-2b
6 Bevacizumab and Sorafenib in Treating Patients With Unresectable Stage III or Stage IV Malignant Melanoma Completed NCT00387751 Phase 2 Sorafenib Tosylate
7 Temsirolimus and Bevacizumab in Treating Patients With Stage III or Stage IV Malignant Melanoma Completed NCT00397982 Phase 2 Temsirolimus
8 Carboplatin, Paclitaxel, and Bevacizumab With or Without Everolimus in Treating Patients With Metastatic Malignant Melanoma Completed NCT00976573 Phase 2 carboplatin;everolimus;paclitaxel
9 Bevacizumab With or Without Interferon Alfa in Treating Patients With Metastatic Malignant Melanoma Completed NCT00026221 Phase 2
10 A Study to Assess APO866 for the Treatment of Advanced Melanoma Completed NCT00432107 Phase 2 APO866
11 Natural Killer Cells Plus IL-2 Following Chemotherapy to Treat Advanced Melanoma or Kidney Cancer Completed NCT00328861 Phase 2 Natural Killer (NK) Lymphocytes;Cyclophosphamide;Fludarabine
12 Evaluation of the Impact of Adjuvants Accompanying Peptide Immunization in High-Risk Melanoma Completed NCT00273910 Phase 2 gp100:209-217 (210M);Montanide ISA-51;Imiquimod
13 Efficacy and Safety of Nintedanib Combined With Paclitaxel Chemotherapy for Patients With BRAF wt Metastatic Melanoma Recruiting NCT02308553 Phase 1, Phase 2 Nintedanib;Nintedanib-Placebo;Paclitaxel
14 Vaccination With Autologous Dendritic Cells Loaded With Autologous Tumor Lysate or Homogenate Combined With Immunomodulating Radiotherapy and/or Preleukapheresis IFN-alfa in Patients With Metastatic Melanoma: a Randomized "Proof-of-principle" Phase II Stu Recruiting NCT01973322 Phase 2
15 Phase 1b/2 Study of the Combination of IMCgp100 With Durvalumab and/or Tremelimumab in Cutaneous Melanoma Recruiting NCT02535078 Phase 1, Phase 2 IMCgp100;durvalumab;tremelimumab
16 A Study of T-VEC (Talimogene Laherparepvec) With or Without Radiotherapy for Melanoma, Merkel Cell Carcinoma, or Other Solid Tumors Recruiting NCT02819843 Phase 2 TALIMOGENE LAHERPAREPVEC (TVEC)
17 Tumor-Infiltrating Lymphocytes After Combination Chemotherapy in Treating Patients With Metastatic Melanoma Recruiting NCT01807182 Phase 2 Cyclophosphamide;Fludarabine Phosphate
18 Ipilimumab With or Without Nivolumab in Treating Patients With Melanoma That is Stage IV or Stage III and Cannot Be Removed by Surgery Recruiting NCT03033576 Phase 2
19 Aldesleukin and Pembrolizumab in Treating Patients With Stage III-IV Melanoma Recruiting NCT02748564 Phase 2
20 Ipilimumab With or Without Bevacizumab in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT01950390 Phase 2
21 Epacadostat and Vaccine Therapy in Treating Patients With Stage III-IV Melanoma Active, not recruiting NCT01961115 Phase 2 Epacadostat
22 Nab-Paclitaxel and Bevacizumab or Ipilimumab as First-Line Therapy in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT02158520 Phase 2 Nab-paclitaxel
23 Aldesleukin With or Without Ziv-Aflibercept in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT01258855 Phase 2
24 Ipilimumab With or Without High-Dose Recombinant Interferon Alfa-2b in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Active, not recruiting NCT01708941 Phase 2
25 Phase II Study of Abraxane Plus Ipilimumab in Patients With Metastatic Melanoma Active, not recruiting NCT01827111 Phase 2 ABI-007;Ipilimumab
26 Immunization With 8 Peptides Mixed With Adjuvant Montanide ISA 51 in HLA-A2 Patients With Metastatic Cutaneous Melanoma Suspended NCT00145158 Phase 1, Phase 2
27 Pembrolizumab and Ibrutinib in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Suspended NCT03021460 Phase 2 Ibrutinib
28 Effect of rIL-21 on Metastases in Lymph Nodes in Melanoma Skin Cancer Terminated NCT00601861 Phase 2 recombinant interleukin-21
29 Drosophila-generated CTL Terminated NCT01271907 Phase 2 fludarabine;cyclophosphamide;Drosophila-peptide pulsed Melanoma-reactive autologous CD8+ PBL;Aldesleukin
30 A Study of Safety and Clinical Activity of Immunotherapy Plus Chemotherapy in Metastatic Melanoma Patients Terminated NCT00849875 Phase 2 Dacarbazine
31 Vaccine Therapy With or Without Recombinant Interleukin-12 Followed by Daclizumab in Treating Patients With Metastatic Melanoma Terminated NCT01307618 Phase 2
32 Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Stage IV Melanoma Terminated NCT01120275 Phase 2 gamma-secretase/Notch signalling pathway inhibitor RO4929097
33 Immunotherapy of Melanoma Patients Completed NCT00112216 Phase 1
34 Booster Vaccination in Preventing Disease Recurrence in Previously Vaccinated Patients With Melanoma That Has Been Removed By Surgery Completed NCT01989559 Phase 1
35 Combination Therapy of Topical Imiquimod Plus Multipeptide Vaccination for Cutaneous Metastases of Melanoma Completed NCT01264731 Phase 1 Imiquimod
36 Gamma-Secretase Inhibitor RO4929097 and Cediranib Maleate in Treating Patients With Advanced Solid Tumors Completed NCT01131234 Phase 1 Gamma-Secretase Inhibitor RO4929097;Cediranib Maleate
37 A Study of Anti-PD-L1 Checkpoint Antibody (LY3300054) Alone and in Combination in Participants With Advanced Refractory Solid Tumors Recruiting NCT02791334 Phase 1 LY3300054;Ramucirumab;Abemaciclib;Merestinib
38 SRS and Nivolumab in Treating Patients With Newly Diagnosed Melanoma Metastases in the Brain or Spine Recruiting NCT02716948 Phase 1
39 Romidepsin in Treating Patients With Lymphoma, Chronic Lymphocytic Leukemia, or Solid Tumors With Liver Dysfunction Recruiting NCT01638533 Phase 1 Romidepsin
40 Onalespib, Dabrafenib, and Trametinib in Treating Patients With BRAF-Mutant Melanoma or Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02097225 Phase 1 Dabrafenib;Onalespib;Trametinib
41 Radiation Therapy and MK-3475 for Patients With Recurrent/Metastatic Head and Neck Cancer, Renal Cell Cancer, Melanoma, and Lung Cancer Recruiting NCT02318771 Phase 1 MK-3475
42 TLR8 Agonist VTX-2337 and Cyclophosphamide in Treating Patients With Metastatic, Persistent, Recurrent, or Progressive Solid Tumors Active, not recruiting NCT02650635 Phase 1 Cyclophosphamide;TLR8 Agonist VTX-2337
43 Cediranib Maleate and Selumetinib in Treating Patients With Solid Malignancies Active, not recruiting NCT01364051 Phase 1 Cediranib Maleate;Selumetinib
44 Akt Inhibitor MK2206 and Hydroxychloroquine in Treating Patients With Advanced Solid Tumors, Melanoma, Prostate or Kidney Cancer Active, not recruiting NCT01480154 Phase 1 Akt Inhibitor MK2206;Hydroxychloroquine
45 Paclitaxel Albumin-Stabilized Nanoparticle Formulation and Bevacizumab in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery or Gynecological Cancers Suspended NCT02020707 Phase 1 Paclitaxel Albumin-Stabilized Nanoparticle Formulation
46 Determine Toxicity and Antibody Responses With a KLH Conjugated Bivalent Vaccine Containing GD2 Lactone, GD3 Lactone With Immunological Adjuvant QS-DG or OPT-821 in Patients With Disease Free AJCC Stage III or IV Cutaneous Melanoma Completed NCT00597272
47 A Feasibility Study to Identify T-cell Responses to Neo-epitopes in Tumor Invaded Lymph Nodes (NeoEpitope) Recruiting NCT02831634
48 Interactive Tailored Website to Promote Sun Protection and Skin Self-Check Behaviors in Patients With Stage 0-III Melanoma Recruiting NCT03028948

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 8

Genetic Tests for Melanoma, Cutaneous Malignant 8

Genetic tests related to Melanoma, Cutaneous Malignant 8:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 8 29
2 Skin/hair/eye Pigmentation, Variation in, 3 29

Anatomical Context for Melanoma, Cutaneous Malignant 8

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 8:

39
Skin, Eye, Liver, Kidney, Lymph Node, Endothelial, T Cells

Publications for Melanoma, Cutaneous Malignant 8

Variations for Melanoma, Cutaneous Malignant 8

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 8:

71
id Symbol AA change Variation ID SNP ID
1 MITF p.Glu425Lys VAR_067367 rs149617956

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh37 Chromosome 3, 70014091: 70014091

Cosmic variations for Melanoma, Cutaneous Malignant 8:

9 (show all 19)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM44126 TP53 skin,eye,carcinoma,NS c.507G>A p.M169I 7
2 COSM43583 TP53 skin,eye,carcinoma,NS c.425C>T p.P142L 7
3 COSM45444 TP53 skin,eye,carcinoma,NS c.587G>T p.R196L 7
4 COSM144245 PTCH1 skin,eye,carcinoma,NS c.1585A>T p.K529* 7
5 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 7
6 COSM498 HRAS skin,eye,carcinoma,NS c.182A>T p.Q61L 7
7 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 6
8 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 6
9 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 6
10 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 6
11 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 6
12 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 6
13 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6
14 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 6
15 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 6
16 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 6
17 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 6
18 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 6
19 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 6

Expression for Melanoma, Cutaneous Malignant 8

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 8.

Pathways for Melanoma, Cutaneous Malignant 8

Pathways related to Melanoma, Cutaneous Malignant 8 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.98 MITF TYR

GO Terms for Melanoma, Cutaneous Malignant 8

Sources for Melanoma, Cutaneous Malignant 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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