MCID: MLN043
MIFTS: 27

Melanoma, Cutaneous Malignant 8

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 8

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 8:

Name: Melanoma, Cutaneous Malignant 8 57 75
Cutaneous Malignant Melanoma 8 75 29 6
Melanoma, Cutaneous Malignant, Susceptibility to, 8 57 13
Cmm8 57 75
Mitf-Related Melanoma and Renal Cell Carcinoma Predisposition Syndrome 59
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 8 40
Melanoma and Renal Cell Carcinoma, Susceptibility to 57
Susceptibility to Melanoma and Renal Cell Carcinoma 75
Melanoma and Renal Cell Carcinoma 57

Characteristics:

Orphanet epidemiological data:

59

HPO:

32
melanoma, cutaneous malignant 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614456
Orphanet 59 ORPHA293822
MedGen 42 C3152204
MeSH 44 D008545

Summaries for Melanoma, Cutaneous Malignant 8

OMIM : 57 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 skin/hair/eye pigmentation, variation in, 3 and renal cell carcinoma, nonpapillary. An important gene associated with Melanoma, Cutaneous Malignant 8 is MITF (Melanogenesis Associated Transcription Factor). Affiliated tissues include skin, eye and nk cells, and related phenotypes are renal cell carcinoma and cutaneous melanoma

UniProtKB/Swiss-Prot : 75 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 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

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

# Related Disease Score Top Affiliating Genes
1 skin/hair/eye pigmentation, variation in, 3 11.2
2 renal cell carcinoma, nonpapillary 10.4
3 melanoma 10.4
4 leukemia, acute myeloid 9.8
5 leukemia 9.8
6 myeloid leukemia 9.8

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

Human phenotypes related to Melanoma, Cutaneous Malignant 8:

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

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 8

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 8

Genetic Tests for Melanoma, Cutaneous Malignant 8

Genetic tests related to Melanoma, Cutaneous Malignant 8:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 8 29 MITF

Anatomical Context for Melanoma, Cutaneous Malignant 8

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

41
Skin, Eye, Nk Cells, T Cells, Myeloid

Publications for Melanoma, Cutaneous Malignant 8

Articles related to Melanoma, Cutaneous Malignant 8:

(show all 18)
# Title Authors Year
1
The Toxicity and Benefit of Various Dosing Strategies for Interleukin-2 in Metastatic Melanoma and Renal Cell Carcinoma. ( 26557408 )
2015
2
Expression and regulatory effects of murine Schlafen (Slfn) genes in malignant melanoma and renal cell carcinoma. ( 24089532 )
2013
3
Histamine dihydrochloride for the treatment of acute myeloid leukemia, malignant melanoma and renal cell carcinoma. ( 18407731 )
2008
4
IL-21 induces in vivo immune activation of NK cells and CD8(+) T cells in patients with metastatic melanoma and renal cell carcinoma. ( 18286285 )
2008
5
Interleukin-2 for the treatment of solid tumors other than melanoma and renal cell carcinoma. ( 16317284 )
2006
6
Enhanced cytotoxicity of allogeneic NK cells with killer immunoglobulin-like receptor ligand incompatibility against melanoma and renal cell carcinoma cells. ( 15016654 )
2004
7
Immune effects of escalating doses of granulocyte-macrophage colony-stimulating factor added to a fixed, low-dose, inpatient interleukin-2 regimen: a randomized phase I trial in patients with metastatic melanoma and renal cell carcinoma. ( 12616104 )
2003
8
Phase I trial of combined immunotherapy with subcutaneous granulocyte macrophage colony-stimulating factor, low-dose interleukin 2, and interferon alpha in progressive metastatic melanoma and renal cell carcinoma. ( 10778950 )
2000
9
Correspondence re: G. C. de Gast et al., Phase I trial of combined immunotherapy with subcutaneous granulocyte macrophage colony-stimulating factor, low-dose interleukin 2, and interferon alpha in progressive metastatic melanoma and renal cell carcinoma. Clin. Cancer Res., 6: 1267-1272, 2000. ( 11051273 )
2000
10
Low-dose intravenous bolus interleukin-2 with interferon-alpha therapy for metastatic melanoma and renal cell carcinoma. ( 9456437 )
1998
11
Randomized placebo-controlled clinical trial of high-dose interleukin-2 in combination with a soluble p75 tumor necrosis factor receptor immunoglobulin G chimera in patients with advanced melanoma and renal cell carcinoma. ( 9060545 )
1997
12
Adoptive immunotherapy with tumor-infiltrating lymphocytes and interleukin-2 in patients with metastatic malignant melanoma and renal cell carcinoma: a pilot study. ( 7636534 )
1995
13
The hematologic toxicity of interleukin-2 in patients with metastatic melanoma and renal cell carcinoma. ( 7842405 )
1995
14
Treatment of metastatic melanoma and renal cell carcinoma with interleukin-2. ( 7933390 )
1994
15
Treatment of malignant melanoma and renal cell carcinoma with recombinant human interleukin-2: analysis of cytokine levels in sera and culture supernatants. ( 1567693 )
1992
16
Pilot study of interleukin-2 and lymphokine-activated killer cells combined with immunomodulatory doses of chemotherapy and sequenced with interferon alfa-2a in patients with metastatic melanoma and renal cell carcinoma. ( 1629914 )
1992
17
Malignant melanoma and renal cell carcinoma: immunological and haematological effects of recombinant human interleukin-2. ( 1832884 )
1991
18
Weekly 24-hour continuous infusion interleukin-2 for metastatic melanoma and renal cell carcinoma: a phase I study. ( 2012799 )
1991

Variations for Melanoma, Cutaneous Malignant 8

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

75
# Symbol AA change Variation ID SNP ID
1 MITF p.Glu425Lys VAR_067367 rs149617956

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 8:

6
# 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
2 MITF NM_000248.3(MITF): c.952G> A (p.Glu318Lys) single nucleotide variant risk factor rs149617956 GRCh38 Chromosome 3, 69964940: 69964940

Cosmic variations for Melanoma, Cutaneous Malignant 8:

9
(show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 5
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 5
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 5
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 5
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 5
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 5
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 5
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 5
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 5
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 5
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 5
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 5
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 5
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 5

Expression for Melanoma, Cutaneous Malignant 8

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

Pathways for Melanoma, Cutaneous Malignant 8

GO Terms for Melanoma, Cutaneous Malignant 8

Sources for Melanoma, Cutaneous Malignant 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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