MCID: MLN079
MIFTS: 39

Melanoma in Congenital Melanocytic Nevus

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Melanoma in Congenital Melanocytic Nevus

MalaCards integrated aliases for Melanoma in Congenital Melanocytic Nevus:

Name: Melanoma in Congenital Melanocytic Nevus 12 15
Malignant Melanoma in Congenital Melanocytic Nevus 12
Melanocytic Nevi 12
Nevi Melanocytic 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0070327
NCIt 49 C48613
SNOMED-CT 67 75931002

Summaries for Melanoma in Congenital Melanocytic Nevus

Disease Ontology : 12 A skin melanoma that arises from a congenital melanocytic nevus.

MalaCards based summary : Melanoma in Congenital Melanocytic Nevus, also known as malignant melanoma in congenital melanocytic nevus, is related to melanocytic nevus syndrome, congenital and large congenital melanocytic nevus. An important gene associated with Melanoma in Congenital Melanocytic Nevus is MLANA (Melan-A), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Vitamin D3 and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include skin and colon, and related phenotypes are behavior/neurological and homeostasis/metabolism

Related Diseases for Melanoma in Congenital Melanocytic Nevus

Diseases related to Melanoma in Congenital Melanocytic Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 394)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 33.4 TYR NRAS MC1R HRAS
2 large congenital melanocytic nevus 33.0 NRAS MLANA MITF MC1R HRAS
3 lentigines 32.8 TYR RAF1 MLANA MITF MC1R BRAF
4 spitz nevus 31.8 HRAS CDKN2A BRAF
5 keratosis 31.2 TYR HRAS CDKN2A
6 halo nevi 31.1 TYR PMEL MLANA
7 conjunctival nevus 31.0 NRAS MLANA
8 acral lentiginous melanoma 30.9 NRAS MLANA HRAS CDKN2A BRAF
9 keratosis, seborrheic 30.9 MLANA MC1R CDKN2A
10 thyroid cancer, nonmedullary, 2 30.8 NRAS HRAS BRAF
11 vitiligo-associated multiple autoimmune disease susceptibility 1 30.8 TYR PMEL MLANA MITF MC1R
12 skin carcinoma 30.7 TYR NRAS MLANA MC1R HRAS H2AC18
13 langerhans cell histiocytosis 30.7 S100B NRAS BRAF
14 histiocytosis 30.7 S100B NRAS BRAF
15 amelanotic melanoma 30.7 TYR S100B MLANA MITF BRAF
16 ochronosis 30.7 TYR MITF MC1R
17 albinism 30.7 TYR MITF MC1R
18 neurofibroma 30.6 TYR S100B S100A1 NGFR MLANA MITF
19 cutaneous fibrous histiocytoma 30.6 S100B S100A1 MLANA
20 glomus tumor 30.6 S100B S100A1 CDKN2A
21 cutaneous ganglioneuroma 30.6 S100A6 MITF
22 spitzoid melanoma 30.6 NRAS MLANA HRAS CDKN2A BRAF
23 skin benign neoplasm 30.6 MLANA HRAS BRAF
24 differentiated thyroid carcinoma 30.6 NRAS HRAS BRAF
25 rhabdoid cancer 30.5 KDM4C H2AC18 CDKN2A
26 lentigo maligna melanoma 30.5 S100B MLANA MITF MC1R
27 melanoma 30.5 TYR S100B S100A6 RAF1 PMEL NRAS
28 squamous cell papilloma 30.5 HRAS CDKN2A
29 microphthalmia 30.5 TYR S100B PMEL MLANA MITF MC1R
30 leiomyosarcoma 30.5 S100B S100A1 MLANA CDKN2A
31 oculocutaneous albinism 30.5 TYR PMEL MITF MC1R
32 skin disease 30.4 TYR S100B MITF MIR199A1 MC1R H2AC18
33 juvenile xanthogranuloma 30.4 S100B S100A1 PMEL MLANA BRAF
34 nodular malignant melanoma 30.3 TYR NRAS MLANA MITF MC1R HRAS
35 neurilemmoma 30.1 TYR S100B S100A1 NGFR MLANA MITF
36 skin melanoma 30.1 TYR PMEL NRAS MLANA MITF MIR214
37 lynch syndrome 30.1 KDM4C HRAS H2AC18 CDKN2A BRAF
38 breast disease 29.9 MIR24-1 MIR214 MIR199A1 KDM4C H2AC18
39 actinic keratosis 29.9 TYR MMP14 MITF MC1R HRAS CDKN2A
40 leukemia, chronic myeloid 29.9 RAF1 NRAS MIR199A1 KDM4C HRAS H2AC18
41 lymphoma, non-hodgkin, familial 29.7 NRAS MIR214 MIR199A1 KDM4C H2AC18 CDKN2A
42 leukemia, acute lymphoblastic 29.7 MIR199A1 KDM4C HRAS H2AC18 CDKN2A
43 melanoma, cutaneous malignant 1 29.7 TYR RAF1 PMEL NRAS MLANA MITF
44 melanosis, neurocutaneous 12.0
45 cutaneous mastocytoma 11.7
46 phacomatosis pigmentovascularis 11.4
47 melanoma, cutaneous malignant 10 10.8
48 melphalan allergy 10.6 NRAS BRAF
49 malignant leptomeningeal tumor 10.6 NRAS MLANA
50 meningeal melanoma 10.6 NRAS MLANA

Graphical network of the top 20 diseases related to Melanoma in Congenital Melanocytic Nevus:



Diseases related to Melanoma in Congenital Melanocytic Nevus

Symptoms & Phenotypes for Melanoma in Congenital Melanocytic Nevus

MGI Mouse Phenotypes related to Melanoma in Congenital Melanocytic Nevus:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 BRAF CDKN2A HRAS MC1R MITF MMP14
2 homeostasis/metabolism MP:0005376 10.28 BRAF CDKN2A HRAS KDM4C MITF MMP14
3 cellular MP:0005384 10.25 BRAF CDKN2A KDM4C MC1R MITF MMP14
4 integument MP:0010771 10.25 BRAF CDKN2A HRAS KDM4C MC1R MITF
5 cardiovascular system MP:0005385 10.22 BRAF CDKN2A HRAS MC1R MMP14 NGFR
6 endocrine/exocrine gland MP:0005379 10.18 BRAF CDKN2A HRAS KDM4C MITF MMP14
7 craniofacial MP:0005382 10.15 BRAF HRAS MC1R MITF MMP14 NGFR
8 hearing/vestibular/ear MP:0005377 10 BRAF MC1R MITF MMP14 NGFR RAF1
9 no phenotypic analysis MP:0003012 10 CDKN2A HRAS KDM4C MC1R MITF MLANA
10 neoplasm MP:0002006 9.92 BRAF CDKN2A HRAS KDM4C MC1R NRAS
11 limbs/digits/tail MP:0005371 9.91 BRAF MC1R MITF MMP14 NGFR NRAS
12 normal MP:0002873 9.85 BRAF HRAS MITF MMP14 NGFR NRAS
13 pigmentation MP:0001186 9.56 BRAF CDKN2A MC1R MITF MLANA NRAS
14 vision/eye MP:0005391 9.28 BRAF CDKN2A MITF MMP14 NGFR NRAS

Drugs & Therapeutics for Melanoma in Congenital Melanocytic Nevus

Drugs for Melanoma in Congenital Melanocytic Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D3 Approved, Nutraceutical Phase 1 67-97-0 5280795 6221
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
3 Micronutrients Phase 1
4 Trace Elements Phase 1
5 Vitamins Phase 1
6 Hormones Phase 1
7 Nutrients Phase 1
8 Calciferol Phase 1
9
carbamide peroxide Approved 124-43-6
10 Calcium, Dietary
11
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Skin Cancer Prevention in a Pediatric Population Completed NCT01464957 Phase 2
2 Pilot Study on the Bioactivity of Vitamin D in the Skin After Oral Supplementation Completed NCT01447355 Phase 1 cholecalciferol
3 Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy Unknown status NCT01194947
4 Improving Diagnosis of Skin Cancer Patients Via Optical Coherence Tomography and Teledermatology- A Pilot Study Unknown status NCT01680562
5 BRAF and Nevi.Nevi Are Common Benign Pigmented Tumors of the Skin. Mutations in So-called BRAF and NRAS Genes Genes Appear to be Initiating Events Responsible for the Formation of Nevi. Completed NCT00422448
6 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
7 The miRNA Machinery in Melanoma, Melanoma Metastases and Benign Melanocytic Naevi Completed NCT01444560
8 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
9 Genetic Basis of Melanocytic Nevi Recruiting NCT03054584
10 Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study Recruiting NCT02280889
11 Family Study of Melanoma in Italy Recruiting NCT00339222
12 Molecular Analysis of Childhood and Adolescent Melanocytic Lesions Active, not recruiting NCT02775643
13 Effect of Phototherapy on Serum Level of Calcium in Infants With Hyperbilirubinemia Not yet recruiting NCT04215601

Search NIH Clinical Center for Melanoma in Congenital Melanocytic Nevus

Genetic Tests for Melanoma in Congenital Melanocytic Nevus

Anatomical Context for Melanoma in Congenital Melanocytic Nevus

MalaCards organs/tissues related to Melanoma in Congenital Melanocytic Nevus:

40
Skin, Colon

Publications for Melanoma in Congenital Melanocytic Nevus

Articles related to Melanoma in Congenital Melanocytic Nevus:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Eruptive nevi associated with medications (ENAMs). 61
27241804 2016
2
Out-of-plane Stokes imaging polarimeter for early skin cancer diagnosis. 61
22894497 2012
3
Real-time Raman spectroscopy for in vivo skin cancer diagnosis. 61
22434431 2012
4
Letter: Cutaneous mastocytosis with systemic involvement mimicking clinical and dermatoscopically multiple melanocytic nevi. 61
22136871 2011
5
The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. 54
20482673 2010
6
Fluorescence in situ hybridization as a diagnostic modality in melanocytic neoplasma. 61
20197743 2010
7
Molecular pathogenesis of malignant melanoma: a different perspective from the studies of melanocytic nevus and acral melanoma. 54
19788535 2010
8
The absence of BRAF, FGFR3, and PIK3CA mutations differentiates lentigo simplex from melanocytic nevus and solar lentigo. 54
19536147 2009
9
Malignant melanoma--a genetic overview. 54
20096196 2009
10
Polyclonality of BRAF mutations in acquired melanocytic nevi. 54
19752400 2009
11
The role of BRAF mutation and p53 inactivation during transformation of a subpopulation of primary human melanocytes. 54
19389934 2009
12
Allelotyping, microsatellite instability, and BRAF mutation analyses in common and atypical melanocytic nevi and primary cutaneous melanomas. 54
19461239 2009
13
Proliferation arrest in B-Raf mutant melanoma cell lines upon MAPK pathway activation. 54
18650848 2009
14
Expression of S100A6 protein in a broad spectrum of cutaneous tumors using tissue microarrays. 54
18201235 2008
15
G1 cell cycle regulators in congenital melanocytic nevi. Comparison with acquired nevi and melanomas. 54
18494826 2008
16
Differential gene expression in melanocytic nevi with the V600E BRAF mutation. 54
17696195 2007
17
Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi. 54
17301836 2007
18
The significance of Ki-67 proliferative index and cyclin D1 expression of dysplastic nevi in the biologic spectrum of melanocytic lesions. 54
17525627 2007
19
Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. 54
16888631 2007
20
BRAF and NRAS mutations in spitzoid melanocytic lesions. 54
16799476 2006
21
BRAF and NRAS mutations in melanoma and melanocytic nevi. 54
16845322 2006
22
Genetic alterations in melanocytic tumors. 54
16750612 2006
23
Implication of MT1-MMP in the maturation steps of benign melanocytic nevi. 54
16420309 2006
24
Absence of mutations in the coding sequence of the potential tumor suppressor 3pK in metastatic melanoma. 54
16367997 2005
25
Fatty acid synthase expression in cutaneous melanocytic neoplasms. 54
15920554 2005
26
Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. 54
15982315 2005
27
Spitz nevi and atypical Spitz nevi/tumors: a histologic and immunohistochemical analysis. 54
15467715 2005
28
Usefulness of the novel oncofetal antigen glypican-3 for diagnosis of hepatocellular carcinoma and melanoma. 54
15807627 2005
29
Identification of glypican-3 as a novel tumor marker for melanoma. 54
15475451 2004
30
SPRY2 is an inhibitor of the ras/extracellular signal-regulated kinase pathway in melanocytes and melanoma cells with wild-type BRAF but not with the V599E mutant. 54
15313890 2004
31
BRAF mutations are common somatic events in melanocytic nevi. 54
15009715 2004
32
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. 54
15009714 2004
33
BRAF mutation: a frequent event in benign, atypical, and malignant melanocytic lesions of the skin. 54
14501284 2003
34
Expression of translation initiation factor eIF-2alpha is increased in benign and malignant melanocytic and colonic epithelial neoplasms. 54
12942578 2003
35
BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. 54
12873977 2003
36
S100A6 protein expression is different in Spitz nevi and melanomas. 54
12748257 2003
37
The density of melanocytic nevi correlates with constitutional variables and history of sunburns: a prevalence study among Italian schoolchildren. 61
12209963 2002
38
MMP-2, TIMP-2 and MT1-MMP are differentially expressed in lesional skin of melanocytic nevi and their expression is modulated by UVB-light. 54
12139633 2002
39
Melanocytic proliferations associated with lichen sclerosus. 61
11790170 2002
40
Loss of p14ARF expression in melanoma. 54
11876522 2002
41
Alterations of mismatch repair protein expression in benign melanocytic nevi, melanocytic dysplastic nevi, and cutaneous malignant melanomas. 61
11481522 2001
42
S100A6 expression in fibrohistiocytic lesions. 54
11401666 2001
43
Immunohistochemical distinction of epithelioid histiocytic proliferations from epithelioid melanocytic nevi. 54
10871066 2000
44
A comparative immunohistochemical study of MART-1 expression in Spitz nevi, ordinary melanocytic nevi, and malignant melanomas. 54
10688724 2000
45
Lack of p73 mutations and late occurrence of p73 allelic deletions in melanoma tissues and cell lines. 54
10404074 1999
46
A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. 54
10417291 1999
47
Expression of catenins and p120cas in melanocytic nevi and cutaneous melanoma: deficient alpha-catenin expression is associated with melanoma progression. 54
10503270 1999
48
Expression of melan-A (MART1) in benign melanocytic nevi and primary cutaneous malignant melanoma. 54
9706977 1998
49
Prognostic significance of allelic losses in primary melanoma. 54
9619830 1998
50
Loss of expression of the p16INK4/CDKN2 gene in cutaneous malignant melanoma correlates with tumor cell proliferation and invasive stage. 54
9221801 1997

Variations for Melanoma in Congenital Melanocytic Nevus

Expression for Melanoma in Congenital Melanocytic Nevus

Search GEO for disease gene expression data for Melanoma in Congenital Melanocytic Nevus.

Pathways for Melanoma in Congenital Melanocytic Nevus

Pathways related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 RAF1 NRAS HRAS CDKN2A BRAF
2 12.8 RAF1 NRAS MITF HRAS CDKN2A BRAF
3
Show member pathways
12.79 RAF1 NRAS NGFR HRAS BRAF
4 12.75 RAF1 NRAS NGFR HRAS BRAF
5
Show member pathways
12.75 RAF1 NRAS HRAS CDKN2A BRAF
6
Show member pathways
12.71 RAF1 NRAS NGFR HRAS BRAF
7
Show member pathways
12.68 RAF1 NRAS NGFR HRAS BRAF
8
Show member pathways
12.67 RAF1 NRAS NGFR HRAS CDKN2A
9
Show member pathways
12.59 RAF1 NRAS MITF HRAS CDKN2A BRAF
10
Show member pathways
12.39 RAF1 NRAS HRAS BRAF
11
Show member pathways
12.39 RAF1 NRAS MITF HRAS BRAF
12 12.37 RAF1 NRAS MIR214 MIR199A1 HRAS CDKN2A
13
Show member pathways
12.33 TYR RAF1 NRAS MITF MC1R HRAS
14
Show member pathways
12.32 RAF1 NRAS HRAS BRAF
15 12.28 RAF1 NRAS HRAS BRAF
16
Show member pathways
12.28 RAF1 NRAS HRAS BRAF
17
Show member pathways
12.26 RAF1 NRAS HRAS BRAF
18
Show member pathways
12.26 RAF1 NRAS HRAS BRAF
19
Show member pathways
12.14 RAF1 NRAS HRAS BRAF
20 12.12 RAF1 NRAS HRAS CDKN2A
21
Show member pathways
12.05 RAF1 NRAS HRAS BRAF
22
Show member pathways
12.05 RAF1 NRAS HRAS BRAF
23
Show member pathways
12.02 RAF1 NRAS HRAS BRAF
24
Show member pathways
12.01 RAF1 NRAS NGFR HRAS BRAF
25 11.95 RAF1 NRAS HRAS BRAF
26 11.92 RAF1 NRAS HRAS BRAF
27
Show member pathways
11.9 RAF1 NRAS HRAS BRAF
28 11.82 RAF1 NRAS HRAS
29
Show member pathways
11.74 RAF1 NRAS HRAS BRAF
30 11.7 RAF1 NRAS HRAS
31 11.7 RAF1 NRAS HRAS CDKN2A BRAF
32 11.68 NRAS MITF HRAS
33 11.68 RAF1 HRAS BRAF
34 11.64 RAF1 NRAS HRAS
35
Show member pathways
11.59 RAF1 NRAS HRAS BRAF
36 11.58 RAF1 MMP14 HRAS CDKN2A BRAF
37 11.56 RAF1 MMP14 BRAF
38 11.54 RAF1 NRAS HRAS BRAF
39 11.49 RAF1 NRAS HRAS
40 11.3 NRAS HRAS BRAF
41 11.3 RAF1 NRAS HRAS BRAF
42 11.23 RAF1 NRAS HRAS
43 11.2 RAF1 NRAS HRAS BRAF
44 11.07 RAF1 NRAS HRAS
45 11.01 RAF1 NRAS HRAS
46 10.88 RAF1 NRAS HRAS CDKN2A BRAF
47 10.85 RAF1 HRAS
48 10.81 NRAS HRAS

GO Terms for Melanoma in Congenital Melanocytic Nevus

Cellular components related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.92 TYR PMEL MMP14 MLANA

Biological processes related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.72 MITF KDM4C HRAS CDKN2A BRAF
2 MAPK cascade GO:0000165 9.71 RAF1 NRAS HRAS BRAF
3 positive regulation of connective tissue replacement GO:1905205 9.43 MIR214 MIR199A1
4 Ras protein signal transduction GO:0007265 9.43 NRAS HRAS CDKN2A
5 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.37 MIR214 MIR199A1
6 thymus development GO:0048538 9.33 TYR RAF1 BRAF
7 pigmentation GO:0043473 9.13 TYR MITF MC1R
8 melanin biosynthetic process GO:0042438 8.8 TYR PMEL MC1R

Molecular functions related to Melanoma in Congenital Melanocytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.13 S100B S100A6 S100A1
2 S100 protein binding GO:0044548 8.8 S100B S100A6 S100A1

Sources for Melanoma in Congenital Melanocytic Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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