MCID: CNT041
MIFTS: 33

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 14 69
Central Nervous System Primary Melanocytic Lesion 12
Primary Melanocytic Lesion of Meninges 12
Primary Melanocytic Lesions of the Cns 12
Melanocytic Tumor of the Cns 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4955
NCIt 47 C4661 C5504
SNOMED-CT 64 277523004

Summaries for Central Nervous System Melanocytic Neoplasm

MalaCards based summary : Central Nervous System Melanocytic Neoplasm, also known as central nervous system primary melanocytic lesion, is related to classic phenylketonuria and epidermal nevus, somatic. An important gene associated with Central Nervous System Melanocytic Neoplasm is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Ras signaling pathway. The drugs Vatalanib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are Decreased viability and growth/size/body region

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)
id Related Disease Score Top Affiliating Genes
1 classic phenylketonuria 10.9 GNA11 GNAQ
2 epidermal nevus, somatic 10.7 HRAS NRAS
3 facial nerve disease 10.7 GNA11 GNAQ NRAS
4 ovarian serous adenofibroma 10.7 GNA11 GNAQ NRAS
5 malignant hyperthermia susceptibility type 3 10.7 ENO2 HRAS
6 chronic polyneuropathy 10.7 HRAS NRAS
7 ovary rhabdomyosarcoma 10.6 ENO2 HRAS
8 glomus tumor 10.6 ENO2 KIT
9 ossifying fibromyxoid tumor 10.6 ENO2 HRAS NRAS
10 pharynx cancer 10.6 CDKN2A GNA11 GNAQ
11 split hand split foot nystagmus 10.6 CDKN2A HRAS
12 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 10.5 HRAS NRAS
13 post-surgical hypoinsulinemia 10.5 CDKN2A GNA11 GNAQ
14 melanocytic nevus syndrome, congenital, somatic 10.5 HRAS NRAS TYR
15 foramen magnum meningioma 10.5 ADAMTS1 ENO2 GNAQ
16 retroperitoneal leiomyosarcoma 10.5 ENO2 KIT YARS
17 coloboma of macula and skeletal anomalies 10.4 HRAS NRAS
18 diffuse meningeal melanocytosis 10.4 CDKN2A KIT NRAS
19 dyserythropoietic anemia and thrombocytopenia 10.4 HRAS KIT NRAS
20 hypersensitivity reaction type iii disease 10.4 ENO2 HRAS KIT
21 benign shuddering attacks 10.4 CDKN2A ENO2 HRAS
22 pancreatic agenesis 10.4 CDKN2A ENO2 KIT
23 small cell sarcoma 10.4 CDKN2A ENO2 GNA11 GNAQ
24 facial hemiatrophy 10.4 CDKN2A KIT NRAS
25 dyschromatosis symmetrica hereditaria 10.4 HRAS TYR YARS
26 parotid gland adenoid cystic carcinoma 10.4 GNA11 GNAQ KIT NRAS
27 gastrointestinal neuroendocrine tumor 10.3 CDKN2A HRAS KIT
28 endocervical type cervical adenomyoma 10.3 MLANA PMEL
29 gallbladder cancer 10.2 CDKN2A HRAS KIT
30 idiopathic juvenile osteoporosis 10.2 CDKN2A HGF TYR
31 gastric papillary adenocarcinoma 10.2 HRAS KIT
32 epidural neoplasm 10.2 CDKN2A MLANA
33 superficial basal cell carcinoma 10.2 CDKN2A KIT
34 spinal cord melanoma 10.2 KIT MLANA
35 dubin-johnson syndrome 10.2 CDKN2A HRAS KIT NRAS
36 atrophic gastritis 10.1 CDKN2A NRAS PMEL TYR
37 schnitzler syndrome 10.1 ENO2 MLANA TYR
38 sebaceous basal cell carcinoma 10.1 MLANA TYR
39 paratesticular lipoma 10.1 CD68 KIT
40 peritoneal benign neoplasm 10.1 ENO2 KIT MLANA
41 sarcomatoid squamous cell skin carcinoma 10.0 CDKN2A HGF
42 hanhart syndrome 10.0 MLANA PMEL TYR
43 hypoglossal nerve disease 10.0 CD68 KIT
44 portal vein thrombosis 10.0 MLANA PMEL TYR
45 filamentary keratitis 10.0 CD68 KIT
46 thyroid angiosarcoma 10.0 KIT MLANA TYR
47 giant hemangioma 9.9 CD68 S100A9
48 spindle epithelial tumor with thymus-like differentiation tumor 9.9 CD68 CDKN2A HRAS
49 malignant giant cell tumor of the tendon sheath 9.9 CD68 S100A9
50 bladder urachal squamous cell carcinoma 9.9 CDKN2A KIT MLANA

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.47 HRAS
2 Decreased viability GR00221-A-1 9.47 CDKN2A HGF HRAS KIT NRAS
3 Decreased viability GR00221-A-2 9.47 HGF HRAS
4 Decreased viability GR00221-A-3 9.47 CDKN2A HRAS NRAS
5 Decreased viability GR00221-A-4 9.47 CDKN2A HGF
6 Decreased viability GR00301-A 9.47 KIT

MGI Mouse Phenotypes related to Central Nervous System Melanocytic Neoplasm:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ADAMTS1 CDKN2A ENO2 GNA11 GNAQ HGF
2 cardiovascular system MP:0005385 10.09 CDKN2A GNA11 GNAQ GPR180 HGF HRAS
3 homeostasis/metabolism MP:0005376 10.06 ADAMTS1 CDKN2A GNA11 GNAQ GPR180 HRAS
4 craniofacial MP:0005382 9.95 NRAS TYR ENO2 GNA11 GNAQ HRAS
5 mortality/aging MP:0010768 9.93 TYR YARS ZIC1 ADAMTS1 CDKN2A GNA11
6 integument MP:0010771 9.91 CDKN2A GNA11 GNAQ HRAS KIT MLANA
7 no phenotypic analysis MP:0003012 9.61 NRAS PMEL TYR CD68 CDKN2A HGF
8 pigmentation MP:0001186 9.23 CDKN2A GNA11 GNAQ KIT MLANA NRAS

Drugs & Therapeutics for Central Nervous System Melanocytic Neoplasm

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vatalanib Investigational Phase 2 212141-54-3 151194
2 Protein Kinase Inhibitors Phase 2
3
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
4
Dacarbazine Approved, Investigational Phase 1 4342-03-4 5351166
5
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
6 Alkylating Agents Phase 1
7 Anticonvulsants Phase 1
8 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Vatalanib in Treating Patients With Recurrent or Progressive Meningioma Completed NCT00348790 Phase 2 vatalanib
2 Proton Beam Radiation Therapy in Treating Patients With Low Grade Gliomas Active, not recruiting NCT01024907 Phase 1, Phase 2
3 Bortezomib and Temozolomide in Treating Patients With Brain Tumors or Other Solid Tumors That Have Not Responded to Treatment Completed NCT00544284 Phase 1 bortezomib;temozolomide
4 RO4929097, Temozolomide, and Radiation Therapy in Treating Patients With Newly Diagnosed Malignant Glioma Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
5 Acute Side Effects in Patients Who Are Undergoing Stereotactic Radiosurgery for Brain Tumors or Other Brain Disorders Completed NCT00255671
6 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 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:

39
Brain

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 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 GNA11 GNAQ HRAS KIT NRAS
2
Show member pathways
12.53 GNAQ HGF HRAS KIT NRAS
3
Show member pathways
12.24 GNA11 GNAQ HRAS NRAS
4
Show member pathways
12.01 GNAQ HRAS KIT NRAS TYR
5
Show member pathways
11.83 GNA11 GNAQ HRAS NRAS
6 11.78 GNAQ HRAS NRAS
7 11.76 CDKN2A GNA11 GNAQ HGF HRAS KIT
8
Show member pathways
11.63 HRAS KIT NRAS
9 11.55 CDKN2A HRAS NRAS
10 11.49 GNA11 GNAQ HGF HRAS NRAS
11 11.47 HRAS KIT NRAS
12 11.45 GNA11 GNAQ HRAS
13 11.08 GNA11 GNAQ HGF
14 11.03 GNA11 GNAQ HRAS NRAS
15 10.97 HGF HRAS NRAS
16 10.67 HRAS NRAS
17 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:

id Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 8.8 MLANA PMEL TYR

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.76 HGF HRAS KIT NRAS
2 action potential GO:0001508 9.49 GNA11 GNAQ
3 G-protein coupled acetylcholine receptor signaling pathway GO:0007213 9.48 GNA11 GNAQ
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.43 GNA11 GNAQ
5 melanin biosynthetic process GO:0042438 9.4 PMEL TYR
6 somatic stem cell division GO:0048103 9.37 CDKN2A KIT
7 phototransduction, visible light GO:0007603 9.32 GNA11 GNAQ
8 entrainment of circadian clock GO:0009649 9.26 GNA11 GNAQ
9 Ras protein signal transduction GO:0007265 9.26 CDKN2A HRAS NRAS RREB1
10 regulation of melanocyte differentiation GO:0045634 9.16 GNA11 GNAQ
11 developmental pigmentation GO:0048066 8.92 GNA11 GNAQ KIT PMEL

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

id Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.26 GNA11 GNAQ HRAS NRAS
2 guanyl nucleotide binding GO:0019001 9.16 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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