Melanoma, Cutaneous Malignant 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Eye diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609048

MedGen ⁴² C1836892

MeSH ⁴⁴ D008545

SNOMED-CT via HPO ⁶⁹ 263681008 254818000 61814002 more

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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.

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Related Diseases for Melanoma, Cutaneous Malignant 3

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

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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 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

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Drugs & Therapeutics for Melanoma, Cutaneous Malignant 3

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

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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

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Anatomical Context for Melanoma, Cutaneous Malignant 3

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

⁴¹

Skin, Eye

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Publications for Melanoma, Cutaneous Malignant 3

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Genes for Melanoma, Cutaneous Malignant 3

Genes related to Melanoma, Cutaneous Malignant 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1402.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)	9425228 15880589 5377176 (more) 7652577 8528263

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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

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Expression for Melanoma, Cutaneous Malignant 3

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

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Pathways for Melanoma, Cutaneous Malignant 3

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GO Terms for Melanoma, Cutaneous Malignant 3

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