MCID: CNT041
MIFTS: 29

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 71
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 49 C4661 C5504
UMLS 71 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 Human cytomegalovirus infection and Aldosterone synthesis and secretion. Affiliated tissues include skin, thyroid and ovary, and related phenotypes are craniofacial and integument

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 67)
# Related Disease Score Top Affiliating Genes
1 diffuse meningeal melanocytosis 30.4 MLANA MIB1
2 primary melanocytic tumor of central nervous system 11.8
3 phakomatosis cesioflammea 10.3 GNAQ GNA11
4 epithelioid cell melanoma 10.3 MLANA GNAQ
5 melanotic neurilemmoma 10.3 MLANA GNAQ
6 melanoma in congenital melanocytic nevus 10.3 NRAS MLANA
7 penis sarcoma 10.2 MLANA ENO2
8 hypomelanosis of ito 10.2 GNAQ GNA11
9 mature teratoma of the ovary 10.2 MLANA ENO2
10 jejunal neoplasm 10.2 MLANA ENO2
11 malignant granular cell myoblastoma 10.2 MLANA ENO2
12 myxosarcoma 10.2 MLANA ENO2
13 vaginal endometrial stromal sarcoma 10.2 MLANA ENO2
14 vagina sarcoma 10.2 MLANA ENO2
15 olfactory nerve neoplasm 10.1 MLANA ENO2
16 cranial nerve malignant neoplasm 10.1 MLANA ENO2
17 acral lentiginous melanoma 10.1 NRAS GNAQ
18 pelvic lipomatosis 10.1 MLANA ENO2
19 cranial nerve neoplasm 10.1 MLANA ENO2
20 subleukemic leukemia 10.1 MLANA ENO2
21 conventional fibrosarcoma 10.1 NRAS ENO2
22 mongolian spot 10.1 MLANA GNAQ GNA11
23 mixed cell uveal melanoma 10.1 MLANA GNAQ GNA11
24 mucosal melanoma 10.0 NRAS GNAQ GNA11
25 ocular cancer 10.0 MLANA GNAQ GNA11
26 granular cell tumor 9.9 MLANA ENO2
27 acneiform dermatitis 9.9 NRAS HRAS
28 schimmelpenning-feuerstein-mims syndrome 9.9 NRAS HRAS
29 core binding factor acute myeloid leukemia 9.8 NRAS HRAS
30 meningeal melanoma 9.8 NRAS MLANA GNAQ GNA11
31 benign struma ovarii 9.8 NRAS HRAS
32 duodenal benign neoplasm 9.8 HRAS ENO2
33 malignant leptomeningeal tumor 9.8 NRAS MLANA GNAQ GNA11
34 ampulla of vater neoplasm 9.8 HRAS ENO2
35 conjunctival nevus 9.8 NRAS MLANA GNAQ GNA11
36 malignant conjunctival melanoma 9.8 NRAS MLANA GNAQ GNA11
37 conjunctival cancer 9.8 NRAS MLANA GNAQ GNA11
38 ectomesenchymoma 9.8 HRAS ENO2
39 nasal cavity cancer 9.8 MLANA HRAS
40 melanocytic nevus syndrome, congenital 9.8 NRAS HRAS
41 vulvar disease 9.8 NRAS HRAS
42 sensory organ benign neoplasm 9.7 NRAS MLANA GNAQ ENO2
43 myelodysplastic/myeloproliferative neoplasm 9.7 NRAS HRAS
44 nevus, epidermal 9.7 NRAS HRAS GNAQ
45 ras-associated autoimmune leukoproliferative disorder 9.7 NRAS HRAS
46 ocular melanoma 9.7 NRAS GNAQ GNA11 EIF1AX
47 respiratory system benign neoplasm 9.6 MLANA HRAS ENO2
48 muscle cancer 9.6 MLANA HRAS ENO2
49 mesenchymal chondrosarcoma 9.6 HRAS ENO2
50 differentiated thyroid carcinoma 9.5 NRAS HRAS EIF1AX

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

MGI Mouse Phenotypes related to Central Nervous System Melanocytic Neoplasm:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 ENO2 GNA11 GNAQ HRAS MIB1 NRAS
2 integument MP:0010771 9.43 GNA11 GNAQ HRAS MIB1 MLANA NRAS
3 pigmentation MP:0001186 8.92 GNA11 GNAQ MLANA NRAS

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

MalaCards organs/tissues related to Central Nervous System Melanocytic Neoplasm:

40
Skin, Thyroid, Ovary, Myeloid

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. 61
27117140 2016
2
Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. 61
19936769 2010
3
Pigmented lesions of the central nervous system: radiologic-pathologic correlation. 61
19755608 2009
4
Primary melanocytic lesions of the CNS: report of five cases. 61
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 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 NRAS HRAS GNAQ GNA11
2
Show member pathways
12.7 NRAS HRAS GNAQ GNA11
3 12.64 NRAS HRAS GNAQ GNA11
4
Show member pathways
12.6 NRAS HRAS GNA11 EIF1AX
5
Show member pathways
12.56 NRAS HRAS GNAQ GNA11
6
Show member pathways
12.54 NRAS HRAS GNAQ GNA11
7
Show member pathways
12.42 NRAS HRAS GNAQ GNA11
8
Show member pathways
12.35 NRAS HRAS GNAQ GNA11
9
Show member pathways
12.16 HRAS GNAQ GNA11
10
Show member pathways
12.16 NRAS HRAS GNAQ GNA11
11
Show member pathways
12 NRAS HRAS GNAQ
12 11.9 NRAS HRAS GNAQ
13
Show member pathways
11.84 HRAS GNAQ GNA11
14
Show member pathways
11.82 HRAS GNAQ GNA11
15 11.8 NRAS HRAS GNAQ
16 11.75 NRAS HRAS GNAQ
17 11.72 NRAS HRAS GNAQ
18
Show member pathways
11.72 NRAS HRAS GNAQ GNA11
19 11.42 NRAS HRAS GNAQ GNA11
20 11.4 NRAS HRAS GNAQ GNA11
21 11.36 HRAS GNAQ GNA11
22 11.26 GNAQ GNA11
23 11.25 NRAS HRAS
24 11.21 GNAQ GNA11
25 11.19 GNAQ GNA11
26 11.18 NRAS HRAS
27 11.12 NRAS HRAS
28 11.12 NRAS HRAS
29
Show member pathways
11.1 NRAS HRAS
30 11.06 NRAS HRAS GNAQ GNA11
31
Show member pathways
11.04 NRAS HRAS
32 10.98 NRAS HRAS
33 10.95 NRAS HRAS
34
Show member pathways
10.78 GNAQ GNA11
35 10.73 NRAS HRAS GNAQ
36 10.7 NRAS HRAS GNAQ GNA11
37 10.65 NRAS HRAS

GO Terms for Central Nervous System Melanocytic Neoplasm

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

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNAQ GNA11

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

# Name GO ID Score Top Affiliating Genes
1 action potential GO:0001508 9.32 GNAQ GNA11
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.26 GNAQ GNA11
3 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.16 GNAQ GNA11
4 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
5 entrainment of circadian clock GO:0009649 8.62 GNAQ GNA11

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.35 NRAS HRAS GTPBP4 GNAQ GNA11
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAQ GNA11
3 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA11
4 type 2A serotonin receptor binding GO:0031826 9.16 GNAQ GNA11
5 GTPase activity GO:0003924 9.02 NRAS HRAS GTPBP4 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 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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