Melanotic Neurilemmoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Melanotic Neurilemmoma

MalaCards integrated aliases for Melanotic Neurilemmoma:

Name: Melanotic Neurilemmoma ¹² ¹⁵ ⁷¹

Pigmented Neurilemmoma ¹²

Melanotic Schwannoma ¹²

Pigmented Schwannoma ¹²

Classifications:

MalaCards categories:
Global: Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3205

NCIt ⁴⁹ C6970

SNOMED-CT ⁶⁷ 985004

UMLS ⁷¹ C1306247

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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 Response to elevated platelet cytosolic Ca2+ and DAG and IP3 signaling. Affiliated tissues include pituitary, breast and spinal cord, and related phenotypes are Increased proliferation and integument

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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 161)

#	Related Disease	Score	Top Affiliating Genes
1	neurilemmoma	31.2	SMARCB1 PRKAR1A NF2 CD34
2	carney complex variant	31.0	PRKAR2A PRKAR1A PRKACG POMC PDE11A MLANA
3	cellular schwannoma	30.3	NF2 CD34
4	plexiform schwannoma	30.1	NF2 CD34
5	spindle cell sarcoma	30.0	NF2 CD34
6	spinal meningioma	30.0	SMARCB1 NF2
7	neurilemmomatosis	29.8	SMARCB1 PRKAR1A NF2
8	conn's syndrome	29.7	PRKAR1A POMC PDE11A
9	meningioma, radiation-induced	29.6	SMARCB1 NF2
10	meningioma, familial	28.3	SMARCB1 PRKAR1A POMC NF2 MLANA CD34
11	carney complex, type 1	11.7
12	mediastinal melanocytic neurilemmoma	11.4
13	rare tumor	10.5
14	breast adenoma	10.4	PRKAR1A PDE11A
15	acth-independent cushing syndrome	10.4	PRKAR1A PDE11A
16	penis sarcoma	10.3	MLANA CD34
17	glomangiosarcoma	10.3	MLANA CD34
18	benign perivascular tumor	10.3	MLANA CD34
19	intravascular fasciitis	10.3	MLANA CD34
20	sarcomatoid squamous cell skin carcinoma	10.3	MLANA CD34
21	jejunal neoplasm	10.3	MLANA CD34
22	dermis tumor	10.3	MLANA CD34
23	vaginal endometrial stromal sarcoma	10.3	MLANA CD34
24	angiolipoma	10.3	MLANA CD34
25	malignant leptomeningeal tumor	10.3	MLANA GNAQ
26	meningeal melanoma	10.3	MLANA GNAQ
27	meningeal melanomatosis	10.3	MLANA GNAQ
28	lung meningioma	10.3	NF2 CD34
29	melanomatosis	10.3	MLANA GNAQ
30	epithelioid neurofibroma	10.3	NF2 CD34
31	parasagittal meningioma	10.3	NF2 CD34
32	cerebral convexity meningioma	10.3	NF2 CD34
33	malignant anus melanoma	10.3	MLANA GNAQ
34	infiltrating angiolipoma	10.3	MLANA CD34
35	vagina sarcoma	10.3	MLANA CD34
36	meningeal melanocytoma	10.3	MLANA GNAQ
37	glomangiomatosis	10.3	MLANA CD34
38	conjunctival nevus	10.2	MLANA GNAQ
39	uterus leiomyosarcoma	10.2	MLANA CD34
40	central nervous system melanocytic neoplasm	10.2	MLANA GNAQ
41	neurofibromatosis, type iv, of riccardi	10.2
42	melanoma	10.2
43	47,xyy	10.2
44	tièche-jadassohn nevus	10.2
45	sensory organ benign neoplasm	10.2	MLANA GNAQ
46	malignant dermis tumor	10.2	MLANA GNAQ
47	epithelioid cell melanoma	10.2	MLANA GNAQ
48	malignant skin fibrous histiocytoma	10.2	MLANA GNAQ
49	vulvar melanoma	10.2	MLANA GNAQ
50	orbital cancer	10.2	NF2 CD34

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

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Symptoms & Phenotypes for Melanotic Neurilemmoma

GenomeRNAi Phenotypes related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased proliferation	GR00094-A	8.62	NF2 SMARCB1

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.7	CD34 GNAQ MLANA NF2 POMC PRKAR1A
2	neoplasm	MP:0002006	9.35	CD34 NF2 POMC PRKAR1A SMARCB1
3	pigmentation	MP:0001186	8.92	GNAQ MLANA POMC PRKAR1A

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Drugs & Therapeutics for Melanotic Neurilemmoma

Search Clinical Trials , NIH Clinical Center for Melanotic Neurilemmoma

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Genetic Tests for Melanotic Neurilemmoma

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Anatomical Context for Melanotic Neurilemmoma

MalaCards organs/tissues related to Melanotic Neurilemmoma:

⁴⁰

Pituitary, Breast, Spinal Cord, Heart, Skin, Brain, Ovary

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Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

(show all 15)

#	Title	Authors	PMID	Year
1	Pigmented tumors in fallow deer ( Dama dama): 11 cases. ⁶¹	Hughes KL...Alcantar B	28467283	2017
2	Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. ⁶¹	Venturini G...Rivolta C	22281088	2012
3	Benign Pigmented Schwannoma of the Great Omentum: Report of a Rare Case and Review of the Literature. ⁶¹	Tanoue Y...Suzuki Y	21103279	2009
4	[A rare primary tumor of the cerebellopontine angle: melanotic schwannoma, a pigmented tumor with unpredictable prognosis]. ⁶¹	Saint-Blancard P...Dulou R	18276040	2008
5	Scope of FNAC in the diagnosis of soft tissue tumors--a study from a tertiary cancer referral center in India. ⁶¹	Rekhi B...Chinoy R	17973999	2007
6	Plexiform pigmented schwannoma of the uvea. ⁶¹	Saavedra E...Ratliff NB	16500216	2006
7	Tyrosinase expression in malignant melanoma, desmoplastic melanoma, and peripheral nerve tumors. ⁶¹	Boyle JL...Multhaupt HA	12088451	2002
8	Abnormal pigmentation of schwannoma attributed to excess production of neuromelanin-like pigment. ⁶¹	Fukuda T...Suzuki T	10792787	2000
9	Pigmented schwannoma of the ventral spinal cord. ⁶¹	Singer RJ...Copeland M	10342906	1999
10	Coexistence of two different intraspinal tumors. Case report and review of the literature. ⁶¹	Glasauer FE...Lifeso RM	17031913	1999
11	Meningeal melanocytoma: a case report and literature review. ⁶¹	Alameda F...Serrano S	9805360	1998
12	Malignant melanoma arising in a dermoid cyst of the ovary. ⁶¹	Ueda Y...Nakanishi I	2044057	1991
13	Malignant pigmented spinal nerve root schwannoma metastasizing in the brain and viscera. ⁶¹	Cras P...Martin JJ	2286020	1990
14	Melanotic schwannoma of the orbit. Immunohistochemical and ultrastructural study of a case and survey of the literature. ⁶¹	Jensen OA...Bretlau P	2206515	1990
15	Intraspinal pigmented schwannoma with malignant progression. ⁶¹	Roytta M...Kalimo H	3228005	1988

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Genes for Melanotic Neurilemmoma

Genes related to Melanotic Neurilemmoma (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	8.67	DISEASES inferred ¹⁵
2	MLANA	Melan-A	Protein Coding	7.26	DISEASES inferred ¹⁵
3	F10	Coagulation Factor X	Protein Coding	6.52	DISEASES inferred ¹⁵
4	PDE11A	Phosphodiesterase 11A	Protein Coding	6.37	DISEASES inferred ¹⁵
5	NF2	Neurofibromin 2	Protein Coding	5.92	DISEASES inferred ¹⁵
6	ASMTL	Acetylserotonin O-Methyltransferase Like	Protein Coding	5.71	DISEASES inferred ¹⁵
7	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	5.57	DISEASES inferred ¹⁵
8	CD34	CD34 Molecule	Protein Coding	5.52	DISEASES inferred ¹⁵
9	GNAQ	G Protein Subunit Alpha Q	Protein Coding	5.46	DISEASES inferred ¹⁵
10	POMC	Proopiomelanocortin	Protein Coding	5.46	DISEASES inferred ¹⁵
11	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	5.45	DISEASES inferred ¹⁵
12	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	5.45	DISEASES inferred ¹⁵

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Variations for Melanotic Neurilemmoma

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Expression for Melanotic Neurilemmoma

Search GEO for disease gene expression data for Melanotic Neurilemmoma.

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Pathways for Melanotic Neurilemmoma

Pathways related to Melanotic Neurilemmoma according to GeneCards Suite gene sharing:

(show all 27)

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	13.1	PRKAR2A PRKAR1A PRKACG PDE11A GNAQ F10
2	DAG and IP3 signaling ⁶⁵ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²² Ca-dependent events ⁶⁵ Calmodulin induced events ⁶⁵ CaM pathway ⁶⁵ Cam-PDE 1 activation ⁶⁵ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁵ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² EGFR interacts with phospholipase C-gamma ⁶⁵ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁵ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Neurophysiological process PGE2-induced pain processing ²² Opioid Signalling ⁶⁵ PKA activation ⁶⁵ PKA activation in glucagon signalling ⁶⁵ PKA-mediated phosphorylation of CREB ⁶⁵ PLC beta mediated events ⁶⁵ PLC-gamma1 signalling ⁶⁵ Signal transduction Calcium signaling ²²	12.91	PRKAR2A PRKAR1A PRKACG POMC GNAQ
3	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.71	PRKAR2A PRKAR1A PRKACG NF2
4	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.7	PRKACG POMC PDE11A GNAQ
5	Neuroscience ⁴	12.43	PRKAR1A POMC NF2 GNAQ
6	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.42	PRKAR2A PRKAR1A PRKACG GNAQ
7	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²²	12.37	PRKAR2A PRKAR1A PRKACG POMC
8	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	12.19	PRKAR2A PRKAR1A PRKACG GNAQ
9	Development A3 receptor signaling ²² Show member pathways Development A1 receptor signaling ²² G-protein signaling G-Protein alpha-q signaling cascades ²²	12.14	PRKAR2A PRKAR1A PRKACG GNAQ
10	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.12	PRKAR2A PRKAR1A PRKACG
11	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	12.01	PRKAR2A PRKAR1A PRKACG
12	Colorectal Cancer Metastasis ⁶³	12	PRKAR2A PRKAR1A PRKACG
13	Factors involved in megakaryocyte development and platelet production ⁶⁵	11.98	PRKAR2A PRKAR1A PRKACG
14	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	11.97	SMARCB1 PRKAR2A PRKAR1A PRKACG
15	Development A2A receptor signaling ²² Show member pathways Development A2B receptor- action via G-protein alpha s ²²	11.72	PRKAR2A PRKAR1A PRKACG GNAQ
16	Signal transduction_PKA signaling ²²	11.68	PRKAR2A PRKAR1A PRKACG
17	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.58	PRKAR2A PRKAR1A PRKACG
18	G-protein signaling_RhoA regulation pathway ²²	11.57	PRKAR2A PRKAR1A PRKACG GNAQ
19	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁵	11.42	PRKAR2A PRKAR1A PRKACG GNAQ
20	Development_Leptin signaling via PI3K-dependent pathway ²²	11.39	PRKAR2A PRKAR1A PRKACG
21	Netrin Signaling ⁶³	11.34	PRKAR2A PRKAR1A PRKACG
22	NgR-p75(NTR)-Mediated Signaling ⁶³	11.3	PRKAR2A PRKAR1A PRKACG
23	miRs in Muscle Cell Differentiation ¹	11.14	PRKAR2A PRKAR1A PRKACG
24	14-3-3 and Regulation of BAD Activity ⁶³	11.05	PRKAR2A PRKAR1A PRKACG
25	Melanocyte Development and Pigmentation ⁶³	10.87	PRKAR2A PRKAR1A PRKACG POMC
26	Transcription_CREM signaling in testis ²²	10.79	PRKAR2A PRKAR1A PRKACG
27	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	10.52	PRKAR2A PRKAR1A PRKACG GNAQ

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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	plasma membrane raft	GO:0044853	9.26	PRKAR2A PRKAR1A
2	cAMP-dependent protein kinase complex	GO:0005952	9.16	PRKAR2A PRKAR1A
3	nucleotide-activated protein kinase complex	GO:0031588	8.96	PRKAR2A PRKAR1A
4	ciliary base	GO:0097546	8.8	PRKAR2A PRKAR1A PRKACG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of protein kinase activity	GO:0006469	9.5	PRKAR1A NF2 GNAQ
2	regulation of protein kinase activity	GO:0045859	9.43	PRKAR2A PRKAR1A
3	renal water homeostasis	GO:0003091	9.43	PRKAR2A PRKAR1A PRKACG
4	cGMP-mediated signaling	GO:0019934	9.4	PRKAR2A PRKAR1A
5	negative regulation of cAMP-dependent protein kinase activity	GO:2000480	9.37	PRKAR2A PRKAR1A
6	cellular response to glucagon stimulus	GO:0071377	9.33	PRKAR2A PRKAR1A PRKACG
7	activation of protein kinase A activity	GO:0034199	9.13	PRKAR2A PRKAR1A PRKACG
8	blood coagulation	GO:0007596	9.02	PRKAR2A PRKAR1A PRKACG GNAQ F10

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cAMP binding	GO:0030552	9.32	PRKAR2A PRKAR1A
2	protein kinase A catalytic subunit binding	GO:0034236	9.26	PRKAR2A PRKAR1A
3	cAMP-dependent protein kinase inhibitor activity	GO:0004862	9.16	PRKAR2A PRKAR1A
4	cAMP-dependent protein kinase regulator activity	GO:0008603	8.96	PRKAR2A PRKAR1A
5	3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	8.8	PRKAR2A PRKAR1A PDE11A

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Sources for Melanotic Neurilemmoma

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⁷⁴ Wikipedia