MCID: CNT041
MIFTS: 28

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 50 C4661 C5504
SNOMED-CT 67 277523004
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 phakomatosis cesioflammea. An important gene associated with Central Nervous System Melanocytic Neoplasm is MLANA (Melan-A), and among its related pathways/superpathways are DAG and IP3 signaling and Toll-like Receptor Signaling Pathway. 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 80)
# Related Disease Score Top Affiliating Genes
1 diffuse meningeal melanocytosis 30.5 MLANA MIB1
2 phakomatosis cesioflammea 10.2 GNAQ GNA11
3 epithelioid cell melanoma 10.2 MLANA GNA11
4 ovarian melanoma 10.2 NRAS MLANA
5 hypocalciuric hypercalcemia, familial, type ii 10.2 GNAQ GNA11
6 penis sarcoma 10.2 MLANA ENO2
7 weber syndrome 10.2 GNAQ GNA11
8 mature teratoma of the ovary 10.1 MLANA ENO2
9 malignant granular cell myoblastoma 10.1 MLANA ENO2
10 uterus leiomyosarcoma 10.1 MLANA ENO2
11 olfactory nerve neoplasm 10.1 MLANA ENO2
12 cranial nerve malignant neoplasm 10.1 MLANA ENO2
13 cranial nerve neoplasm 10.1 MLANA ENO2
14 subleukemic leukemia 10.1 MLANA ENO2
15 sturge-weber syndrome 10.1 GNAQ GNA11
16 mongolian spot 10.1 MLANA GNAQ GNA11
17 nasal cavity adenocarcinoma 10.0 MLANA HRAS
18 acneiform dermatitis 10.0 NRAS HRAS
19 orbit rhabdomyosarcoma 10.0 NRAS MLANA GNAQ
20 ocular cancer 10.0 MLANA GNAQ GNA11
21 nasal cavity cancer 10.0 MLANA HRAS
22 core binding factor acute myeloid leukemia 10.0 NRAS HRAS
23 oculoectodermal syndrome 10.0 NRAS HRAS
24 hypomelanosis of ito 10.0 NRAS GNAQ GNA11
25 granular cell tumor 10.0 MLANA ENO2
26 mucosal melanoma 10.0 NRAS GNAQ GNA11
27 large intestine adenocarcinoma 10.0 NRAS HRAS
28 ocular melanoma 10.0 NRAS GNAQ GNA11
29 connective tissue benign neoplasm 10.0 MLANA ENO2
30 melanocytic nevus syndrome, congenital 10.0 NRAS HRAS
31 respiratory system benign neoplasm 10.0 MLANA HRAS
32 ampulla of vater neoplasm 10.0 HRAS ENO2
33 benign struma ovarii 10.0 NRAS HRAS
34 familial hypocalciuric hypercalcemia 10.0 GNAQ GNA11
35 vulvar disease 10.0 NRAS HRAS
36 ectomesenchymoma 10.0 HRAS ENO2
37 acral lentiginous melanoma 10.0 NRAS HRAS
38 myelodysplastic/myeloproliferative neoplasm 9.9 NRAS HRAS
39 sensory organ benign neoplasm 9.9 NRAS MLANA ENO2
40 ras-associated autoimmune leukoproliferative disorder 9.9 NRAS HRAS
41 adrenal carcinoma 9.9 NRAS MLANA ENO2
42 hemangioma 9.9 GNAQ GNA11 ENO2
43 mixed cell type cancer 9.9 HRAS ENO2
44 schimmelpenning-feuerstein-mims syndrome 9.9 NRAS HRAS
45 nevus, epidermal 9.9 NRAS HRAS GNAQ
46 skin benign neoplasm 9.8 MLANA HRAS ENO2
47 muscle cancer 9.8 MLANA HRAS ENO2
48 melanomatosis 9.8 NRAS MLANA GTPBP4 GNAQ
49 thyroid cancer, nonmedullary, 2 9.7 NRAS HRAS
50 adrenal cortical adenoma 9.7 MLANA ENO2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 ENO2 GNA11 GNAQ HRAS MIB1 NRAS
2 integument MP:0010771 9.5 GNA11 GNAQ GTPBP4 HRAS MIB1 MLANA
3 pigmentation MP:0001186 9.02 GNA11 GNAQ GTPBP4 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

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 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 NRAS HRAS GNAQ GNA11
2
Show member pathways
12.87 NRAS HRAS GNAQ GNA11
3
Show member pathways
12.74 NRAS HRAS GNAQ GNA11
4
Show member pathways
12.7 NRAS HRAS GNAQ GNA11
5
Show member pathways
12.68 NRAS HRAS GNAQ GNA11
6 12.64 NRAS HRAS GNAQ GNA11
7
Show member pathways
12.6 NRAS HRAS GNA11 EIF1AX
8
Show member pathways
12.56 NRAS HRAS GNAQ GNA11
9
Show member pathways
12.54 NRAS HRAS GNAQ GNA11
10
Show member pathways
12.41 NRAS HRAS GNAQ GNA11
11
Show member pathways
12.34 NRAS HRAS GNAQ GNA11
12
Show member pathways
12.16 NRAS HRAS GNAQ GNA11
13
Show member pathways
12.15 HRAS GNAQ GNA11
14 11.9 NRAS HRAS GNAQ
15
Show member pathways
11.84 HRAS GNAQ GNA11
16
Show member pathways
11.82 HRAS GNAQ GNA11
17 11.8 NRAS HRAS GNAQ
18 11.77 NRAS HRAS GNAQ
19 11.75 NRAS HRAS GNAQ
20
Show member pathways
11.73 NRAS HRAS GNAQ GNA11
21
Show member pathways
11.71 NRAS HRAS GNAQ
22 11.42 NRAS HRAS GNAQ GNA11
23 11.4 NRAS HRAS GNAQ GNA11
24 11.37 NRAS HRAS
25 11.36 HRAS GNAQ GNA11
26 11.32 NRAS HRAS
27 11.27 GNAQ GNA11
28 11.25 NRAS HRAS
29 11.21 GNAQ GNA11
30 11.2 GNAQ GNA11
31 11.18 NRAS HRAS
32 11.14 NRAS HRAS
33 11.13 NRAS HRAS
34
Show member pathways
11.11 NRAS HRAS
35 11.06 NRAS HRAS GNAQ GNA11
36
Show member pathways
11.05 NRAS HRAS
37 10.99 NRAS HRAS
38 10.96 NRAS HRAS
39
Show member pathways
10.8 GNAQ GNA11
40 10.73 NRAS HRAS GNAQ
41 10.7 NRAS HRAS GNAQ GNA11
42 10.69 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 9.26 GNAQ GNA11
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNAQ GNA11
3 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
4 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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