MCID: MLN075
MIFTS: 19

Melanoma, Cutaneous Malignant 3

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 3

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 3:

Name: Melanoma, Cutaneous Malignant 3 57 75
Cutaneous Malignant Melanoma 3 75 29 6
Melanoma, Cutaneous Malignant, 3 57 13
Cmm3 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 3 40
Melanoma, Cutaneous Malignant, Susceptibility to, 3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset before 50 years of age


HPO:

32
melanoma, cutaneous malignant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609048
MedGen 42 C1836892
MeSH 44 D008545

Summaries for Melanoma, Cutaneous Malignant 3

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 malignant melanoma, see 155600. (609048)

MalaCards based summary : Melanoma, Cutaneous Malignant 3, is also known as cutaneous malignant melanoma 3. An important gene associated with Melanoma, Cutaneous Malignant 3 is CDK4 (Cyclin Dependent Kinase 4). Affiliated tissues include skin and eye, and related phenotypes are numerous nevi and atypical nevus

UniProtKB/Swiss-Prot : 75 Melanoma, cutaneous malignant 3: 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 3

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
atypical nevi (>5mm with irregular edge and pigmentation)
numerous nevi
atypical nevi often present in non-sun exposed areas

Neoplasia:
malignant melanoma


Clinical features from OMIM:

609048

Human phenotypes related to Melanoma, Cutaneous Malignant 3:

32
# Description HPO Frequency HPO Source Accession
1 numerous nevi 32 HP:0001054
2 atypical nevus 32 HP:0001062
3 atypical nevi in non-sun exposed areas 32 HP:0001074
4 cutaneous melanoma 32 HP:0012056

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 3

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 3

Genetic Tests for Melanoma, Cutaneous Malignant 3

Genetic tests related to Melanoma, Cutaneous Malignant 3:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 3 29 CDK4

Anatomical Context for Melanoma, Cutaneous Malignant 3

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 3:

41
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 3

Variations for Melanoma, Cutaneous Malignant 3

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 3:

75
# Symbol AA change Variation ID SNP ID
1 CDK4 p.Arg24Cys VAR_006200 rs11547328
2 CDK4 p.Arg24His VAR_006201 rs104894340
3 CDK4 p.Asn41Ser VAR_021152 rs144890720

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 3:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK4 NM_000075.3(CDK4): c.70C> T (p.Arg24Cys) single nucleotide variant Pathogenic rs11547328 GRCh37 Chromosome 12, 58145431: 58145431
2 CDK4 NM_000075.3(CDK4): c.70C> T (p.Arg24Cys) single nucleotide variant Pathogenic rs11547328 GRCh38 Chromosome 12, 57751648: 57751648
3 CDK4 NM_000075.3(CDK4): c.71G> A (p.Arg24His) single nucleotide variant Likely pathogenic,risk factor rs104894340 GRCh37 Chromosome 12, 58145430: 58145430
4 CDK4 NM_000075.3(CDK4): c.71G> A (p.Arg24His) single nucleotide variant Likely pathogenic,risk factor rs104894340 GRCh38 Chromosome 12, 57751647: 57751647
5 CDK4 NM_000075.3(CDK4): c.764G> A (p.Arg255His) single nucleotide variant Conflicting interpretations of pathogenicity rs144657355 GRCh37 Chromosome 12, 58143020: 58143020
6 CDK4 NM_000075.3(CDK4): c.764G> A (p.Arg255His) single nucleotide variant Conflicting interpretations of pathogenicity rs144657355 GRCh38 Chromosome 12, 57749237: 57749237
7 CDK4 NM_000075.3(CDK4): c.696G> A (p.Leu232=) single nucleotide variant Benign rs2227953 GRCh37 Chromosome 12, 58143088: 58143088
8 CDK4 NM_000075.3(CDK4): c.696G> A (p.Leu232=) single nucleotide variant Benign rs2227953 GRCh38 Chromosome 12, 57749305: 57749305
9 CDK4 NM_000075.3(CDK4): c.549C> T (p.Pro183=) single nucleotide variant Likely benign rs778696237 GRCh37 Chromosome 12, 58144522: 58144522
10 CDK4 NM_000075.3(CDK4): c.549C> T (p.Pro183=) single nucleotide variant Likely benign rs778696237 GRCh38 Chromosome 12, 57750739: 57750739
11 CDK4 NM_000075.3(CDK4): c.447A> G (p.Thr149=) single nucleotide variant Benign rs2069501 GRCh37 Chromosome 12, 58144781: 58144781
12 CDK4 NM_000075.3(CDK4): c.447A> G (p.Thr149=) single nucleotide variant Benign rs2069501 GRCh38 Chromosome 12, 57750998: 57750998
13 CDK4 NM_000075.3(CDK4): c.306A> G (p.Thr102=) single nucleotide variant Benign/Likely benign rs201202764 GRCh37 Chromosome 12, 58145038: 58145038
14 CDK4 NM_000075.3(CDK4): c.306A> G (p.Thr102=) single nucleotide variant Benign/Likely benign rs201202764 GRCh38 Chromosome 12, 57751255: 57751255
15 CDK4 NM_000075.3(CDK4): c.132_134delAGG (p.Gly48del) deletion Uncertain significance rs770784286 GRCh37 Chromosome 12, 58145367: 58145369
16 CDK4 NM_000075.3(CDK4): c.132_134delAGG (p.Gly48del) deletion Uncertain significance rs770784286 GRCh38 Chromosome 12, 57751584: 57751586

Cosmic variations for Melanoma, Cutaneous Malignant 3:

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 3

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 3.

Pathways for Melanoma, Cutaneous Malignant 3

GO Terms for Melanoma, Cutaneous Malignant 3

Sources for Melanoma, Cutaneous Malignant 3

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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