MCID: CNT041
MIFTS: 31

Central Nervous System Melanocytic Neoplasm

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Central Nervous System Melanocytic Neoplasm

MalaCards integrated aliases for Central Nervous System Melanocytic Neoplasm:

Name: Central Nervous System Melanocytic Neoplasm 12 15 72
Primary Melanocytic Lesion of Meninges 12 17
Central Nervous System Primary Melanocytic Lesion 12
Primary Melanocytic Lesions of the Cns 12
Melanocytic Tumor of the Cns 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4955
NCIt 50 C4661 C5504
UMLS 72 C0349623 C1332887

Summaries for Central Nervous System Melanocytic Neoplasm

Disease Ontology : 12 A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has material basis in abnormally proliferating cells derives from neural crest cells.

MalaCards based summary : Central Nervous System Melanocytic Neoplasm, also known as primary melanocytic lesion of meninges, is related to diffuse meningeal melanocytosis and primary melanocytic tumor of central nervous system. An important gene associated with Central Nervous System Melanocytic Neoplasm is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Phospholipase-C Pathway and MAPK signaling pathway. Related phenotypes are Decreased viability and Decreased viability

Related Diseases for Central Nervous System Melanocytic Neoplasm

Diseases related to Central Nervous System Melanocytic Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 diffuse meningeal melanocytosis 27.9 ZIC1 S100A9 PMEL MLANA HGF CD68
2 primary melanocytic tumor of central nervous system 11.8
3 phakomatosis cesioflammea 10.8 GNAQ GNA11
4 mongolian spot 10.7 GNAQ ENO2
5 giant congenital nevus 10.7 NRAS HRAS
6 benign struma ovarii 10.6 NRAS HRAS
7 malignant ectomesenchymoma 10.6 HRAS ENO2
8 ectomesenchymoma 10.6 HRAS ENO2
9 schimmelpenning-feuerstein-mims syndrome 10.6 NRAS HRAS
10 conjunctival cancer 10.6 NRAS GNAQ GNA11
11 cutaneous ganglioneuroma 10.5 KIT ENO2
12 thymoma, familial 10.5 KIT HRAS
13 nodular malignant melanoma 10.5 NRAS HRAS GNAQ
14 gastric leiomyosarcoma 10.5 KIT ENO2
15 gallbladder adenoma 10.5 HRAS CDKN2A
16 spitz nevus 10.5 HRAS CDKN2A
17 liver angiosarcoma 10.5 NRAS HRAS ENO2
18 ocular cancer 10.5 GNAQ GNA11 CDKN2A
19 endometrial small cell carcinoma 10.5 KIT ENO2
20 gallbladder melanoma 10.4 PMEL MLANA
21 halo nevi 10.4 PMEL MLANA
22 plexiform schwannoma 10.4 KIT ENO2
23 aggressive digital papillary adenocarcinoma 10.4 KIT HRAS
24 mixed cell type cancer 10.4 KIT HRAS ENO2
25 core binding factor acute myeloid leukemia 10.4 NRAS KIT HRAS
26 malignant anus melanoma 10.4 MLANA KIT
27 infiltrating angiolipoma 10.4 MLANA CDKN2A
28 skin melanoma 10.3 PMEL NRAS CDKN2A
29 adenoid basal cell carcinoma 10.3 KIT CDKN2A
30 acral lentiginous melanoma 10.3 NRAS KIT CDKN2A
31 endometrial squamous cell carcinoma 10.3 HGF CDKN2A
32 small cell carcinoma 10.3 KIT ENO2 CDKN2A
33 melanoacanthoma 10.3 PMEL MLANA
34 renal cell carcinoma, papillary, 1 10.3 NRAS KIT HRAS
35 transitional cell carcinoma 10.3 HRAS ENO2 CDKN2A
36 nervous system cancer 10.3 GNAQ GNA11 ENO2 CDKN2A
37 lymphoepithelioma-like thymic carcinoma 10.3 KIT CDKN2A
38 mucosal melanoma 10.3 NRAS KIT GNAQ GNA11
39 marcus gunn phenomenon 10.3 NRAS HRAS
40 gastrointestinal system cancer 10.2 KIT HRAS CDKN2A
41 epithelioid cell melanoma 10.2 MLANA ENO2
42 skin granular cell tumor 10.2 ENO2 CD68
43 malignant spindle cell melanoma 10.1 RREB1 PMEL NRAS KIT
44 salivary gland carcinoma 10.1 KIT HGF CDKN2A
45 gastrointestinal system disease 10.1 KIT HRAS CDKN2A
46 axillary lipoma 10.1 KIT CD68
47 respiratory system cancer 10.0 PDCD1 HRAS ENO2 CDKN2A
48 fox-fordyce disease 10.0 KIT CD68
49 extracutaneous mastocytoma 10.0 KIT CD68
50 malignant conjunctival melanoma 10.0 PDCD1 NRAS HRAS GNAQ GNA11

Graphical network of the top 20 diseases related to Central Nervous System Melanocytic Neoplasm:



Diseases related to Central Nervous System Melanocytic Neoplasm

Symptoms & Phenotypes for Central Nervous System Melanocytic Neoplasm

GenomeRNAi Phenotypes related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.6 HRAS
2 Decreased viability GR00221-A-1 9.6 CDKN2A HGF HRAS KIT NRAS
3 Decreased viability GR00221-A-2 9.6 HGF HRAS
4 Decreased viability GR00221-A-3 9.6 CDKN2A HRAS NRAS
5 Decreased viability GR00221-A-4 9.6 CDKN2A HGF
6 Decreased viability GR00301-A 9.6 KIT
7 Decreased viability GR00402-S-2 9.6 CDKN2A HGF HRAS KIT NRAS

MGI Mouse Phenotypes related to Central Nervous System Melanocytic Neoplasm:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 CDKN2A FXYD1 GNA11 GNAQ GPR180 HGF
2 growth/size/body region MP:0005378 10.2 CDKN2A ENO2 GNA11 GNAQ HGF HRAS
3 hematopoietic system MP:0005397 10.17 CD68 CDKN2A GNA11 GNAQ HGF KIT
4 integument MP:0010771 10.01 CDKN2A GNA11 GNAQ HRAS KIT MLANA
5 muscle MP:0005369 9.97 CDKN2A FXYD1 GNA11 GNAQ KIT PDCD1
6 no phenotypic analysis MP:0003012 9.86 CD68 CDKN2A HGF HRAS KIT MLANA
7 neoplasm MP:0002006 9.8 CDKN2A HRAS KIT NRAS PDCD1 PLA2G4A
8 pigmentation MP:0001186 9.7 CDKN2A GNA11 GNAQ KIT MLANA NRAS
9 respiratory system MP:0005388 9.56 CDKN2A ENO2 GNA11 GNAQ HRAS KIT
10 skeleton MP:0005390 9.28 CD68 CDKN2A GNA11 GNAQ HRAS KIT

Drugs & Therapeutics for Central Nervous System Melanocytic Neoplasm

Search Clinical Trials , NIH Clinical Center for Central Nervous System Melanocytic Neoplasm

Genetic Tests for Central Nervous System Melanocytic Neoplasm

Anatomical Context for Central Nervous System Melanocytic Neoplasm

Publications for Central Nervous System Melanocytic Neoplasm

Articles related to Central Nervous System Melanocytic Neoplasm:

# Title Authors PMID Year
1
Mutation analysis of metastatic melanomas in the central nervous system: results of a panel of 5 genes in 48 cases. 38
27117140 2016
2
Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. 38
19936769 2010
3
Pigmented lesions of the central nervous system: radiologic-pathologic correlation. 38
19755608 2009
4
Primary melanocytic lesions of the CNS: report of five cases. 38
15306980 2004

Variations for Central Nervous System Melanocytic Neoplasm

Expression for Central Nervous System Melanocytic Neoplasm

Search GEO for disease gene expression data for Central Nervous System Melanocytic Neoplasm.

Pathways for Central Nervous System Melanocytic Neoplasm

Pathways related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 PLA2G4A NRAS KIT HRAS HGF GNA11
2 12.65 PLA2G4A NRAS KIT HRAS HGF
3
Show member pathways
12.64 NRAS KIT HRAS HGF CDKN2A
4
Show member pathways
12.51 PLA2G4A NRAS HRAS GNAQ GNA11
5
Show member pathways
12.44 PLA2G4A NRAS KIT HRAS HGF GNAQ
6
Show member pathways
12.3 PLA2G4A NRAS KIT HRAS
7 12.22 NRAS KIT HRAS HGF GNAQ GNA11
8
Show member pathways
12.2 PLA2G4A HRAS GNAQ GNA11
9 11.89 NRAS HRAS GNAQ
10
Show member pathways
11.89 NRAS HRAS GNAQ GNA11
11 11.87 NRAS HRAS CDKN2A
12 11.86 NRAS HRAS GNAQ
13 11.85 NRAS HRAS CDKN2A
14 11.77 PLA2G4A NRAS HRAS GNAQ
15
Show member pathways
11.69 NRAS KIT HRAS
16 11.63 NRAS HRAS CDKN2A
17 11.57 NRAS HRAS HGF GNAQ GNA11
18 11.56 NRAS KIT HRAS
19 11.55 HRAS GNAQ GNA11
20 11.5 NRAS HRAS GNAQ GNA11
21 11.39 PLA2G4A GNAQ GNA11
22 11.16 HGF GNAQ GNA11
23 11.09 NRAS HRAS HGF
24 11.08 NRAS HRAS GNAQ GNA11
25 10.83 PLA2G4A CD68
26
Show member pathways
10.82 GNAQ GNA11
27 10.8 PLA2G4A NRAS HRAS GNAQ GNA11
28 10.73 NRAS HRAS
29 10.63 NRAS HRAS GNAQ

GO Terms for Central Nervous System Melanocytic Neoplasm

Biological processes related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.56 NRAS KIT HRAS HGF
2 action potential GO:0001508 9.46 GNAQ GNA11
3 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.43 GNAQ GNA11
4 positive regulation of phospholipase C activity GO:0010863 9.4 KIT HRAS
5 developmental pigmentation GO:0048066 9.37 KIT GNA11
6 somatic stem cell division GO:0048103 9.32 KIT CDKN2A
7 phototransduction, visible light GO:0007603 9.16 GNAQ GNA11
8 entrainment of circadian clock GO:0009649 8.96 GNAQ GNA11
9 Ras protein signal transduction GO:0007265 8.92 RREB1 NRAS HRAS CDKN2A

Molecular functions related to Central Nervous System Melanocytic Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.26 NRAS HRAS GNAQ GNA11
2 guanyl nucleotide binding GO:0019001 9.16 GNAQ GNA11
3 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Central Nervous System Melanocytic Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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