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MCID: MLN079
MIFTS: 37

Melanoma in Congenital Melanocytic Nevus

Categories: Cancer diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Melanoma in Congenital Melanocytic Nevus

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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:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0070327
NCIt 50 C48613
SNOMED-CT 67 75931002
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Summaries for Melanoma in Congenital Melanocytic Nevus

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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 lentigines. 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. Affiliated tissues include skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

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Related Diseases for Melanoma in Congenital Melanocytic Nevus

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

(show top 50) (show all 404)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 32.6 TYR NRAS MC1R HRAS
2 lentigines 32.4 RAF1 MC1R BRAF
3 large congenital melanocytic nevus 32.0 NRAS MLANA MITF MC1R HRAS CDKN2A
4 spitz nevus 31.6 HRAS CDKN2A BRAF
5 halo nevi 30.9 TYR PMEL MLANA
6 conjunctival nevus 30.7 NRAS MLANA HRAS
7 acral lentiginous melanoma 30.7 NRAS MC1R HRAS CDKN2A BRAF
8 vitiligo-associated multiple autoimmune disease susceptibility 1 30.7 TYR PMEL MLANA MITF MC1R
9 thyroid cancer, nonmedullary, 2 30.6 NRAS HRAS BRAF
10 amelanotic melanoma 30.6 TYR S100B MLANA BRAF
11 neurofibroma 30.6 TYR S100B S100A1 NGFR MLANA MITF
12 keratosis, seborrheic 30.6 TYR MLANA MC1R CDKN2A
13 thyroid gland follicular carcinoma 30.5 NRAS MIR199A1 HRAS BRAF
14 langerhans cell histiocytosis 30.5 S100B NRAS BRAF
15 histiocytosis 30.5 S100B NRAS BRAF
16 spitzoid melanoma 30.5 NRAS MLANA HRAS CDKN2A BRAF
17 ochronosis 30.4 TYR MITF MC1R
18 cutaneous ganglioneuroma 30.4 S100A6 MITF
19 cutaneous fibrous histiocytoma 30.4 S100B S100A1 MLANA
20 albinism 30.4 TYR MITF MC1R
21 microphthalmia 30.4 TYR S100B PMEL MLANA MITF MC1R
22 differentiated thyroid carcinoma 30.4 NRAS HRAS BRAF
23 squamous cell papilloma 30.4 HRAS CDKN2A
24 nodular malignant melanoma 30.4 TYR NRAS MLANA MITF MC1R HRAS
25 lentigo maligna melanoma 30.3 S100B MLANA MITF MC1R
26 skin benign neoplasm 30.3 TYR MLANA HRAS BRAF
27 rhabdoid cancer 30.3 KDM4C H2AC18 CDKN2A
28 leiomyosarcoma 30.3 S100B S100A1 MLANA CDKN2A
29 oculocutaneous albinism 30.3 TYR PMEL MITF MC1R
30 juvenile xanthogranuloma 30.2 S100B S100A1 PMEL MLANA BRAF
31 melanoma 30.2 TYR S100B S100A6 RAF1 PMEL NRAS
32 neurilemmoma 30.2 TYR S100B S100A1 NGFR MITF
33 melanoma, cutaneous malignant 1 30.1 TYR RAF1 PMEL NRAS MLANA MITF
34 neurofibromatosis, type i 30.0 S100B RAF1 NRAS NGFR HRAS CDKN2A
35 skin carcinoma 30.0 TYR RAF1 PMEL NRAS MLANA MITF
36 adenoid cystic carcinoma 30.0 S100B S100A1 HRAS CDKN2A
37 breast disease 30.0 MIR214 MIR199A1 KDM4C H2AC18
38 lynch syndrome 29.9 NRAS KDM4C HRAS H2AC18 CDKN2A BRAF
39 leukemia, chronic myeloid 29.9 RAF1 NRAS MIR199A1 HRAS H2AC18 BRAF
40 actinic keratosis 29.9 TYR MMP14 MITF MC1R HRAS CDKN2A
41 lymphoma, non-hodgkin, familial 29.8 NRAS MIR214 MIR199A1 KDM4C H2AC18 BRAF
42 leukemia, acute lymphoblastic 29.8 MIR199A1 KDM4C HRAS H2AC18 CDKN2A
43 skin melanoma 29.7 TYR S100B RAF1 PMEL NRAS NGFR
44 skin disease 29.7 TYR S100B NRAS NGFR MITF MIR24-1
45 renal cell carcinoma, nonpapillary 29.1 S100A1 RAF1 PMEL NRAS MITF MIR214
46 melanosis, neurocutaneous 11.5
47 cutaneous mastocytoma 11.2
48 phacomatosis pigmentovascularis 11.1
49 superficial spreading melanoma 10.5
50 melphalan allergy 10.5 NRAS BRAF

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



Diseases related to Melanoma in Congenital Melanocytic Nevus
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Symptoms & Phenotypes for Melanoma in Congenital Melanocytic Nevus

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MGI Mouse Phenotypes related to Melanoma in Congenital Melanocytic Nevus:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 BRAF CDKN2A HRAS MC1R MITF MMP14
2 homeostasis/metabolism MP:0005376 10.31 BRAF CDKN2A HRAS KDM4C MC1R MITF
3 integument MP:0010771 10.25 BRAF CDKN2A HRAS KDM4C MC1R MITF
4 craniofacial MP:0005382 10.13 BRAF HRAS MC1R MITF MMP14 NGFR
5 hearing/vestibular/ear MP:0005377 10 BRAF MC1R MITF MMP14 NGFR RAF1
6 no phenotypic analysis MP:0003012 10 CDKN2A HRAS KDM4C MC1R MITF MLANA
7 neoplasm MP:0002006 9.92 BRAF CDKN2A HRAS KDM4C MC1R NRAS
8 limbs/digits/tail MP:0005371 9.91 BRAF MC1R MITF MMP14 NGFR NRAS
9 normal MP:0002873 9.85 BRAF HRAS MITF MMP14 NGFR NRAS
10 pigmentation MP:0001186 9.56 BRAF CDKN2A MC1R MITF MLANA NRAS
11 vision/eye MP:0005391 9.28 BRAF CDKN2A MITF MMP14 NGFR NRAS
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Drugs & Therapeutics for Melanoma in Congenital Melanocytic Nevus

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Classification and Longitudinal Follow-up of Common Melanocytic Nevi With in Vivo Reflectance Confocal Microscopy Unknown status NCT01194947
2 Dermoscopic Diagnosis, Histopathological Correlation, and Cellular Immortalization of Melanocytic Nevi and Primary Cutaneous Melanoma Completed NCT00288938
3 Melanocytic-Nevi-Counts During Chemotherapy of Children With Malignancies. Completed NCT00600431
4 Genetic Basis of Melanocytic Nevi Recruiting NCT03054584
5 Quality of Life and Experience of Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision: a Prospective Study Recruiting NCT02280889

Search NIH Clinical Center for Melanoma in Congenital Melanocytic Nevus

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Genetic Tests for Melanoma in Congenital Melanocytic Nevus

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Anatomical Context for Melanoma in Congenital Melanocytic Nevus

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

40
Skin
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Publications for Melanoma in Congenital Melanocytic Nevus

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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
Molecular pathogenesis of malignant melanoma: a different perspective from the studies of melanocytic nevus and acral melanoma. 54
19788535 2010
7
Fluorescence in situ hybridization as a diagnostic modality in melanocytic neoplasma. 61
20197743 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
Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. 54
15009714 2004
32
BRAF mutations are common somatic events in melanocytic nevi. 54
15009715 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
Expression of catenins and p120cas in melanocytic nevi and cutaneous melanoma: deficient alpha-catenin expression is associated with melanoma progression. 54
10503270 1999
47
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
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
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Variations for Melanoma in Congenital Melanocytic Nevus

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Expression for Melanoma in Congenital Melanocytic Nevus

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

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

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Endometrial cancer 36
Show member pathways
 12.84 RAF1 NRAS HRAS CDKN2A BRAF
2
Pathways in cancer 36
12.8 RAF1 NRAS MITF HRAS CDKN2A BRAF
3
Beta-Adrenergic Signaling 63
Show member pathways
 12.79 RAF1 NRAS NGFR HRAS BRAF
4
MAPK signaling pathway 36 1
12.75 RAF1 NRAS NGFR HRAS BRAF
5
Gastric cancer 36
Show member pathways
 12.75 RAF1 NRAS HRAS CDKN2A BRAF
6
Ras signaling pathway 36
Show member pathways
 12.71 RAF1 NRAS NGFR HRAS BRAF
7
Development HGF signaling pathway 23
Show member pathways
 12.68 RAF1 NRAS NGFR HRAS BRAF
8
Apoptosis Modulation and Signaling 1
Show member pathways
 12.67 RAF1 NRAS NGFR HRAS CDKN2A
9
Glioma 36
Show member pathways
 12.59 RAF1 NRAS MITF HRAS CDKN2A BRAF
10
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.39 RAF1 NRAS HRAS BRAF
11
RANK Signaling in Osteoclasts 63
Show member pathways
 12.39 RAF1 NRAS MITF HRAS BRAF
12
MicroRNAs in cancer 36
12.37 RAF1 NRAS MIR214 MIR199A1 HRAS CDKN2A
13
Aldosterone synthesis and secretion 36
Show member pathways
 12.33 TYR RAF1 NRAS MITF MC1R HRAS
14
CNTF Signaling 63
Show member pathways
 12.32 RAF1 NRAS HRAS BRAF
15
Development ERBB-family signaling 23
Show member pathways
 12.3 RAF1 NRAS HRAS BRAF
16
Proteoglycans in cancer 36
12.28 RAF1 NRAS HRAS BRAF
17
Paradoxical activation of RAF signaling by kinase inactive BRAF 65
Show member pathways
 12.26 RAF1 NRAS HRAS BRAF
18
G-protein signaling Ras family GTPases in kinase cascades (scheme) 23
Show member pathways
 12.26 RAF1 NRAS HRAS BRAF
19
mTOR Pathway 69
Show member pathways
 12.14 RAF1 NRAS HRAS BRAF
20
Cellular senescence (KEGG) 36
12.12 RAF1 NRAS HRAS CDKN2A
21
FoxO signaling pathway 36
Show member pathways
 12.05 RAF1 NRAS HRAS BRAF
22
Oncogenic MAPK signaling 65
Show member pathways
 12.05 RAF1 NRAS HRAS BRAF
23
NGF Pathway 63
Show member pathways
 12.01 RAF1 NRAS NGFR HRAS BRAF
24
Serotonergic synapse 36
11.94 RAF1 NRAS HRAS BRAF
25
MAP Kinase Signaling 4
11.92 RAF1 NRAS HRAS BRAF
26
Long-term potentiation 36
Show member pathways
 11.9 RAF1 NRAS HRAS BRAF
27
Gap junction 36
11.82 RAF1 NRAS HRAS
28
VEGF Pathway (Tocris) 69
Show member pathways
 11.74 RAF1 NRAS HRAS BRAF
29
Central carbon metabolism in cancer 36
11.7 RAF1 NRAS HRAS
30
Glioblastoma Multiforme 63
11.7 RAF1 NRAS HRAS CDKN2A BRAF
31
Mitophagy - animal 36
11.68 NRAS MITF HRAS
32
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.68 RAF1 HRAS BRAF
33
Commom Cytokine Receptor G Chain Siganaling Pathway 66
11.65 RAF1 NRAS HRAS BRAF
34
GnRH secretion 36
11.64 RAF1 NRAS HRAS
35
Negative regulation of MAPK pathway 65
Show member pathways
 11.59 RAF1 NRAS HRAS BRAF
36
Senescence and Autophagy in Cancer 1
11.58 RAF1 MMP14 HRAS CDKN2A BRAF
37
Signaling events mediated by focal adhesion kinase 1
11.56 RAF1 MMP14 BRAF
38
Long-term depression 36
11.54 RAF1 NRAS HRAS BRAF
39
Aryl Hydrocarbon Receptor 1
11.49 RAF1 NRAS HRAS
40
BDNF-TrkB Signaling 1
11.3 NRAS HRAS BRAF
41
Vemurafenib Pathway, Pharmacodynamics 60
11.3 RAF1 NRAS HRAS BRAF
42
Extracellular vesicle-mediated signaling in recipient cells 1
11.24 RAF1 NRAS HRAS
43
Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics 60
11.2 RAF1 NRAS HRAS BRAF
44
CD209 (DC-SIGN) signaling 65
11.07 RAF1 NRAS HRAS
45
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
11.01 RAF1 NRAS HRAS
46
Bladder cancer 36 1
10.88 RAF1 NRAS HRAS CDKN2A BRAF
47
ERK Pathway in Huntingtons Disease 1
10.85 RAF1 HRAS
48
p38MAPK events 65
10.81 NRAS HRAS
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GO Terms for Melanoma in Congenital Melanocytic Nevus

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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 9.77 MITF KDM4C HRAS CDKN2A BRAF
2 Ras protein signal transduction GO:0007265 9.43 NRAS HRAS CDKN2A
3 positive regulation of connective tissue replacement GO:1905205 9.4 MIR214 MIR199A1
4 thymus development GO:0048538 9.33 TYR RAF1 BRAF
5 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.32 MIR214 MIR199A1
6 pigmentation GO:0043473 9.13 TYR MITF MC1R
7 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 mitogen-activated protein kinase kinase binding GO:0031434 9.16 RAF1 BRAF
2 calcium-dependent protein binding GO:0048306 9.13 S100B S100A6 S100A1
3 S100 protein binding GO:0044548 8.8 S100B S100A6 S100A1
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Sources for Melanoma in Congenital Melanocytic Nevus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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