MCID: MLN009
MIFTS: 33

Melanotic Neurilemmoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Melanotic Neurilemmoma

MalaCards integrated aliases for Melanotic Neurilemmoma:

Name: Melanotic Neurilemmoma 12 15 74
Pigmented Neurilemmoma 12
Melanotic Schwannoma 12
Pigmented Schwannoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3205
NCIt 51 C6970
SNOMED-CT 69 985004
UMLS 74 C1306247

Summaries for Melanotic Neurilemmoma

MalaCards based summary : Melanotic Neurilemmoma, also known as pigmented neurilemmoma, is related to neurilemmoma and carney complex variant. An important gene associated with Melanotic Neurilemmoma is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are Development A3 receptor signaling and Neuroscience. Affiliated tissues include lung, small intestine and skin, and related phenotypes are homeostasis/metabolism and behavior/neurological

Related Diseases for Melanotic Neurilemmoma

Diseases related to Melanotic Neurilemmoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 neurilemmoma 30.9 ENO2 GFAP KIT NF2 PRKAR1A
2 carney complex variant 11.7
3 carney complex, type 1 11.5
4 mediastinal melanocytic neurilemmoma 11.3
5 melanomatosis 10.4 GNA11 GNAQ
6 phakomatosis cesioflammea 10.4 GNA11 GNAQ
7 foramen magnum meningioma 10.4 GNA11 NF2
8 meningothelial meningioma 10.3 ENO2 NF2
9 malignant conjunctival melanoma 10.3 GNA11 GNAQ
10 melanoma 10.3
11 cerebral convexity meningioma 10.3 GFAP NF2
12 intraventricular meningioma 10.3 GFAP NF2
13 mongolian spot 10.3 ADAMTS1 ENO2 GNAQ
14 epithelioid neurofibroma 10.3 CD34 DSP
15 conjunctival cancer 10.3 GNA11 GNAQ
16 rhabdoid meningioma 10.3 GFAP NF2
17 intracranial cysts 10.3 ENO2 GFAP
18 primitive neuroectodermal tumor of the cervix uteri 10.2 ENO2 GFAP
19 cutaneous ganglioneuroma 10.2 ENO2 KIT
20 melanotic medulloblastoma 10.2 ENO2 GFAP
21 cornea cancer 10.2 GFAP NF2
22 meningeal melanomatosis 10.2 ENO2 GNA11 GNAQ
23 psammomatous meningioma 10.2 CD34 NF2
24 gastric leiomyosarcoma 10.2 ENO2 KIT
25 trigeminal nerve neoplasm 10.2 GFAP NF2 PRKAR1A
26 neurilemmoma of the fifth cranial nerve 10.2 GFAP NF2 PRKAR1A
27 lung meningioma 10.2 CD34 ENO2
28 gallbladder melanoma 10.2 MLANA PMEL
29 spinal cancer 10.2 GFAP NF2
30 cerebellar medulloblastoma 10.2 ENO2 GFAP
31 cellular ependymoma 10.2 GFAP RELA
32 pigmented basal cell carcinoma 10.2 MLANA TYR
33 central nervous system primitive neuroectodermal neoplasm 10.2 ENO2 GFAP
34 endometrial small cell carcinoma 10.2 ENO2 KIT
35 gallbladder leiomyoma 10.2 CD34 KIT
36 lung leiomyosarcoma 10.2 CD34 KIT
37 clear cell ependymoma 10.2 ENO2 GFAP
38 mucosal melanoma 10.2 GNA11 GNAQ KIT
39 liver leiomyoma 10.2 CD34 KIT
40 cerebral neuroblastoma 10.2 ENO2 GFAP
41 extracutaneous mastocytoma 10.2 CD34 KIT
42 tièche-jadassohn nevus 10.2
43 small intestine leiomyosarcoma 10.2 CD34 KIT
44 small intestinal sarcoma 10.2 CD34 KIT
45 malignant anus melanoma 10.1 KIT MLANA
46 benign ependymoma 10.1 ENO2 GFAP NF2
47 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1 PMEL TYR
48 gallbladder sarcoma 10.1 CD34 KIT
49 prostate leiomyosarcoma 10.1 CD34 KIT
50 subependymal glioma 10.1 ENO2 GFAP

Graphical network of the top 20 diseases related to Melanotic Neurilemmoma:



Diseases related to Melanotic Neurilemmoma

Symptoms & Phenotypes for Melanotic Neurilemmoma

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 ADAMTS1 CCNG1 CD34 GFAP GNA11 GNAQ
2 behavior/neurological MP:0005386 10.22 ENO2 GFAP GNA11 GNAQ KIT NF2
3 growth/size/body region MP:0005378 10.22 ADAMTS1 DSP ENO2 GFAP GNA11 GNAQ
4 mortality/aging MP:0010768 10.22 ADAMTS1 CCNG1 DSP GFAP GNA11 GNAQ
5 integument MP:0010771 10.17 CD34 DSP GNA11 GNAQ KIT MLANA
6 craniofacial MP:0005382 10.11 DSP ENO2 GNA11 GNAQ KIT NF2
7 digestive/alimentary MP:0005381 10.04 CCNG1 DSP GFAP KIT PRKAR1A RELA
8 nervous system MP:0003631 10 DSP ENO2 GFAP GNA11 GNAQ KIT
9 muscle MP:0005369 9.91 DSP GFAP GNA11 GNAQ KIT PRKAR1A
10 neoplasm MP:0002006 9.8 CCNG1 CD34 KIT NF2 PRKAR1A TYR
11 pigmentation MP:0001186 9.7 GNA11 GNAQ KIT MLANA PMEL PRKAR1A
12 renal/urinary system MP:0005367 9.5 ADAMTS1 GNA11 GNAQ KIT NF2 SLC9A3R1
13 respiratory system MP:0005388 9.17 ENO2 GNA11 GNAQ KIT NF2 PRKAR1A

Drugs & Therapeutics for Melanotic Neurilemmoma

Search Clinical Trials , NIH Clinical Center for Melanotic Neurilemmoma

Genetic Tests for Melanotic Neurilemmoma

Anatomical Context for Melanotic Neurilemmoma

MalaCards organs/tissues related to Melanotic Neurilemmoma:

42
Lung, Small Intestine, Skin, Liver, Heart, Breast, Ovary

Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

# Title Authors Year
1
Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ( 22281088 )
2012

Variations for Melanotic Neurilemmoma

Expression for Melanotic Neurilemmoma

Search GEO for disease gene expression data for Melanotic Neurilemmoma.

Pathways for Melanotic Neurilemmoma

GO Terms for Melanotic Neurilemmoma

Cellular components related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 CCNG1 CD34 DSP ENO2 GFAP GNA11
2 melanosome GO:0042470 9.13 MLANA PMEL TYR
3 membrane GO:0016020 10.03 ADAMTS1 CD34 DSP ENO2 GFAP GNA11

Biological processes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 action potential GO:0001508 9.46 GNA11 GNAQ
2 intermediate filament organization GO:0045109 9.43 DSP GFAP
3 negative regulation of protein kinase activity GO:0006469 9.43 GNAQ NF2 PRKAR1A
4 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.4 GNA11 GNAQ
5 melanin biosynthetic process GO:0042438 9.37 PMEL TYR
6 developmental pigmentation GO:0048066 9.32 GNA11 KIT
7 phototransduction, visible light GO:0007603 9.16 GNA11 GNAQ
8 entrainment of circadian clock GO:0009649 8.96 GNA11 GNAQ
9 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 8.62 GNA11 SLC9A3R1

Molecular functions related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl nucleotide binding GO:0019001 8.96 GNA11 GNAQ
2 type 2A serotonin receptor binding GO:0031826 8.62 GNA11 GNAQ

Sources for Melanotic Neurilemmoma

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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