MCID: CNT041
MIFTS: 39

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 74
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 51 C4661 C5504

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 phakomatosis cesioflammea and mongolian spot. 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. The drugs Temozolomide and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and 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 74)
# Related Disease Score Top Affiliating Genes
1 phakomatosis cesioflammea 10.5 GNA11 GNAQ
2 mongolian spot 10.4 ENO2 GNAQ
3 giant congenital nevus 10.4 HRAS NRAS
4 benign struma ovarii 10.4 HRAS NRAS
5 conjunctival cancer 10.4 GNA11 GNAQ NRAS
6 malignant ectomesenchymoma 10.4 ENO2 HRAS
7 ectomesenchymoma 10.4 ENO2 HRAS
8 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS NRAS
9 nodular malignant melanoma 10.3 GNAQ HRAS NRAS
10 cutaneous ganglioneuroma 10.3 ENO2 KIT
11 thymoma, familial 10.3 HRAS KIT
12 liver angiosarcoma 10.3 ENO2 HRAS NRAS
13 ocular cancer 10.3 CDKN2A GNA11 GNAQ
14 gallbladder adenoma 10.3 CDKN2A HRAS
15 gastric leiomyosarcoma 10.3 ENO2 KIT
16 spitz nevus 10.2 CDKN2A HRAS
17 melanocytic nevus syndrome, congenital 10.2 HRAS NRAS TYR
18 gallbladder melanoma 10.2 MLANA PMEL
19 mixed cell type cancer 10.2 ENO2 HRAS KIT
20 core binding factor acute myeloid leukemia 10.2 HRAS KIT NRAS
21 plexiform schwannoma 10.2 ENO2 KIT
22 nervous system cancer 10.2 CDKN2A ENO2 GNA11 GNAQ
23 acral lentiginous melanoma 10.2 CDKN2A KIT NRAS
24 small cell carcinoma 10.2 CDKN2A ENO2 KIT
25 infiltrating angiolipoma 10.2 CDKN2A MLANA
26 renal cell carcinoma, papillary, 1 10.2 HRAS KIT NRAS
27 mucosal melanoma 10.2 GNA11 GNAQ KIT NRAS
28 malignant anus melanoma 10.1 KIT MLANA
29 transitional cell carcinoma 10.1 CDKN2A ENO2 HRAS
30 adenoid basal cell carcinoma 10.1 CDKN2A KIT
31 endometrial small cell carcinoma 10.1 ENO2 KIT
32 pigmented basal cell carcinoma 10.1 MLANA TYR
33 aggressive digital papillary adenocarcinoma 10.1 HRAS KIT
34 endometrial squamous cell carcinoma 10.1 CDKN2A HGF
35 skin granular cell tumor 10.1 CD68 ENO2
36 epithelioid cell melanoma 10.1 ENO2 MLANA TYR
37 gastrointestinal system cancer 10.1 CDKN2A HRAS KIT
38 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 PDCD1 PMEL TYR
39 acute kidney tubular necrosis 10.1 CDKN2A HGF TYR
40 halo nevi 10.0 MLANA PMEL TYR
41 melanoacanthoma 10.0 MLANA PMEL TYR
42 skin melanoma 10.0 CDKN2A NRAS PMEL TYR
43 salivary gland carcinoma 10.0 CDKN2A HGF KIT
44 respiratory system cancer 10.0 CDKN2A ENO2 HRAS PDCD1
45 axillary lipoma 10.0 CD68 KIT
46 breast angiosarcoma 10.0 KIT MLANA TYR
47 fox-fordyce disease 10.0 CD68 KIT
48 extracutaneous mastocytoma 10.0 CD68 KIT
49 malignant conjunctival melanoma 10.0 GNA11 GNAQ HRAS NRAS PDCD1
50 lymphohistiocytoid mesothelioma 9.9 CD68 CDKN2A

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:

27
# 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:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.33 CDKN2A FXYD1 GNA11 GNAQ GPR180 HGF
2 growth/size/body region MP:0005378 10.29 CDKN2A ENO2 GNA11 GNAQ HGF HRAS
3 homeostasis/metabolism MP:0005376 10.26 CDKN2A GNA11 GNAQ GPR180 HRAS KIT
4 hematopoietic system MP:0005397 10.24 CD68 CDKN2A GNA11 GNAQ HGF KIT
5 mortality/aging MP:0010768 10.21 CDKN2A GNA11 GNAQ HGF HRAS KIT
6 endocrine/exocrine gland MP:0005379 10.18 CDKN2A GNA11 GNAQ HRAS KIT NRAS
7 integument MP:0010771 10.11 CDKN2A GNA11 GNAQ HRAS KIT MLANA
8 craniofacial MP:0005382 10.08 ENO2 GNA11 GNAQ HRAS KIT NRAS
9 muscle MP:0005369 10.01 CDKN2A FXYD1 GNA11 GNAQ KIT PDCD1
10 no phenotypic analysis MP:0003012 9.97 CD68 CDKN2A HGF HRAS KIT MLANA
11 neoplasm MP:0002006 9.91 CDKN2A HRAS KIT NRAS PDCD1 PLA2G4A
12 pigmentation MP:0001186 9.86 CDKN2A GNA11 GNAQ KIT MLANA NRAS
13 renal/urinary system MP:0005367 9.7 GNA11 GNAQ HRAS KIT PDCD1 PLA2G4A
14 respiratory system MP:0005388 9.56 CDKN2A ENO2 GNA11 GNAQ HRAS KIT
15 skeleton MP:0005390 9.32 CD68 CDKN2A GNA11 GNAQ HRAS KIT

Drugs & Therapeutics for Central Nervous System Melanocytic Neoplasm

Drugs for Central Nervous System Melanocytic Neoplasm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
2 Alkylating Agents Phase 1
3 Antineoplastic Agents, Alkylating Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RO4929097, Temozolomide, and Radiation Therapy in Treating Patients With Newly Diagnosed Malignant Glioma Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
2 Gadobutrol Versus Gadopentetate Dimeglumine or Gadobenate Dimeglumine Before DCE-MRI in Diagnosing Patients With Multiple Sclerosis, Grade II-IV Glioma, or Brain Metastases Terminated NCT02967380 Not Applicable Gadobenate Dimeglumine;Gadobutrol

Search 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:

42
Skin, Brain, Kidney, Liver, Breast, Myeloid, Salivary Gland

Publications for Central Nervous System Melanocytic Neoplasm

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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 GNA11 HGF HRAS KIT NRAS PLA2G4A
2 12.66 HGF HRAS KIT NRAS PLA2G4A
3
Show member pathways
12.65 CDKN2A HGF HRAS KIT NRAS
4
Show member pathways
12.59 GNA11 GNAQ HRAS NRAS PLA2G4A
5
Show member pathways
12.51 GNA11 GNAQ HRAS NRAS PLA2G4A
6
Show member pathways
12.49 GNAQ HGF HRAS KIT NRAS PLA2G4A
7
Show member pathways
12.3 HRAS KIT NRAS PLA2G4A
8 12.22 CDKN2A GNA11 GNAQ HGF HRAS KIT
9
Show member pathways
12.2 GNA11 GNAQ HRAS PLA2G4A
10
Show member pathways
11.89 GNA11 GNAQ HRAS NRAS
11 11.79 GNAQ HRAS NRAS PLA2G4A
12
Show member pathways
11.7 HRAS KIT NRAS
13 11.64 CDKN2A HRAS NRAS
14 11.57 GNA11 GNAQ HGF HRAS NRAS
15 11.55 HRAS KIT NRAS
16 11.54 GNA11 GNAQ HRAS
17 11.5 GNA11 GNAQ HRAS NRAS
18 11.39 GNA11 GNAQ PLA2G4A
19 11.16 GNA11 GNAQ HGF
20 11.06 HGF HRAS NRAS
21 11.04 GNA11 GNAQ HRAS NRAS
22 10.83 CD68 PLA2G4A
23 10.8 GNA11 GNAQ HRAS NRAS PLA2G4A
24 10.73 HRAS NRAS
25 10.63 GNAQ HRAS NRAS

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 membrane GO:0016020 9.83 CD68 ENO2 FXYD1 GNA11 GNAQ GPR180
2 melanosome GO:0042470 8.8 MLANA PMEL TYR

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 HGF HRAS KIT NRAS
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.46 GNA11 GNAQ
3 melanin biosynthetic process GO:0042438 9.43 PMEL TYR
4 positive regulation of phospholipase C activity GO:0010863 9.4 HRAS KIT
5 developmental pigmentation GO:0048066 9.37 GNA11 KIT
6 somatic stem cell division GO:0048103 9.32 CDKN2A KIT
7 phototransduction, visible light GO:0007603 9.16 GNA11 GNAQ
8 entrainment of circadian clock GO:0009649 8.96 GNA11 GNAQ
9 Ras protein signal transduction GO:0007265 8.92 CDKN2A HRAS NRAS RREB1

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 9.46 GNA11 GNAQ HRAS NRAS
2 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
3 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Central Nervous System Melanocytic Neoplasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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