MCID: MLN009
MIFTS: 35

Melanotic Neurilemmoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Melanotic Neurilemmoma

MalaCards integrated aliases for Melanotic Neurilemmoma:

Name: Melanotic Neurilemmoma 12 15 71
Melanotic Schwannoma 12 6
Pigmented Neurilemmoma 12
Pigmented Schwannoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3205
NCIt 50 C6970
SNOMED-CT 67 253088003
UMLS 71 C1306247

Summaries for Melanotic Neurilemmoma

MalaCards based summary : Melanotic Neurilemmoma, also known as melanotic schwannoma, is related to neurilemmoma and cellular schwannoma. An important gene associated with Melanotic Neurilemmoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are DAG and IP3 signaling and G-Beta Gamma Signaling. Affiliated tissues include spinal cord, pancreas and uterus, and related phenotypes are Decreased viability and Decreased viability

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 102)
# Related Disease Score Top Affiliating Genes
1 neurilemmoma 31.7 SMARCB1 PRKAR1A NF2
2 cellular schwannoma 30.4 SMARCB1 NF2
3 plexiform schwannoma 30.2 SMARCB1 NF2
4 spinal meningioma 30.1 SMARCB1 NF2
5 secretory meningioma 30.1 SMARCB1 NF2
6 neurilemmomatosis 29.9 SMARCB1 PRKAR1A NF2
7 carney complex variant 29.7 PRKX PRKAR2B PRKAR2A PRKAR1A POMC PDE8B
8 mediastinal melanocytic neurilemmoma 11.2
9 isolated melanotic schwannoma 11.2
10 rare tumor 10.4
11 melanoma 10.4
12 retroperitoneal sarcoma 10.2 SMARCB1 MLANA
13 monosomy 22 10.2 SMARCB1 NF2
14 peripheral nerve schwannoma 10.2 SMARCB1 NF2
15 breast adenoma 10.2 PRKAR1A PDE11A
16 optic nerve sheath meningioma 10.2 SMARCB1 NF2
17 epithelioid malignant peripheral nerve sheath tumor 10.2 SMARCB1 MLANA
18 optic nerve neoplasm 10.2 SMARCB1 NF2
19 meningioma, radiation-induced 10.2 SMARCB1 NF2
20 corpus callosum lipoma 10.2 SMARCB1 NF2
21 small intestine leiomyoma 10.2 NF2 MLANA
22 cerebral hemisphere lipoma 10.2 SMARCB1 NF2
23 spinal canal and spinal cord meningioma 10.2 SMARCB1 NF2
24 mucinous stomach adenocarcinoma 10.2 NF2 MLANA
25 schwannomatosis 1 10.2 SMARCB1 NF2
26 tièche-jadassohn nevus 10.2
27 rhabdoid meningioma 10.2 SMARCB1 NF2
28 clear cell meningioma 10.2 SMARCB1 NF2
29 spinal cancer 10.2 SMARCB1 NF2
30 cerebral ventricle cancer 10.1 SMARCB1 NF2
31 cerebrum cancer 10.1 SMARCB1 NF2
32 supratentorial cancer 10.1 SMARCB1 NF2
33 myositis 10.1
34 myositis ossificans 10.1
35 posttransplant acute limbic encephalitis 10.1
36 schwannoma of twelfth cranial nerve 10.1 SMARCB1 NF2 MLANA
37 hypoglossal nerve disease 10.1 SMARCB1 NF2 MLANA
38 paraganglioma and gastric stromal sarcoma 10.0 PRKAR1A PDE11A
39 li-fraumeni syndrome 10.0 SMARCB1 PRKAR1A NF2
40 acrodysostosis 10.0 PRKAR2B PRKAR1A
41 nasal cavity adenocarcinoma 10.0 POMC MLANA
42 malignant peripheral nerve sheath tumor 10.0 SMARCB1 NF2 MLANA
43 hyperpituitarism 10.0 PRKAR1A POMC
44 breast ductal adenoma 10.0 PRKX PRKAR1A PDE11A
45 acth-independent cushing syndrome 10.0 PRKAR1A PDE8B PDE11A
46 mccune-albright syndrome 10.0 PRKAR1A PDE8B PDE11A
47 beckwith-wiedemann syndrome 10.0 SMARCB1 PRKAR1A PDE11A
48 lentigines 9.9
49 trigeminal neuralgia 9.9
50 yemenite deaf-blind hypopigmentation syndrome 9.9

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



Diseases related to Melanotic Neurilemmoma

Symptoms & Phenotypes for Melanotic Neurilemmoma

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 10.15 NF2
2 Decreased viability GR00221-A-1 10.15 PRKAR1A PRKAR2A PRKX SMARCB1
3 Decreased viability GR00221-A-2 10.15 PRKAR1A SMARCB1
4 Decreased viability GR00221-A-3 10.15 PRKAR1A PRKX SMARCB1 NF2
5 Decreased viability GR00221-A-4 10.15 PRKAR1A PRKAR2A PRKX
6 Decreased viability GR00249-S 10.15 SMARCB1 NF2
7 Decreased viability GR00381-A-1 10.15 SMARCB1
8 Decreased viability GR00402-S-2 10.15 PRKX
9 Decreased cell migration GR00055-A-1 9.46 NF2 PRKAR1A PRKX
10 Decreased cell migration GR00055-A-3 9.46 PRKAR2B
11 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Melanotic Neurilemmoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 MLANA NF2 POMC PRKAR1A PRKAR2B SMARCB1
2 pigmentation MP:0001186 8.92 MLANA POMC PRKAR1A PRKAR2B

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:

40
Spinal Cord, Pancreas, Uterus, Pituitary

Publications for Melanotic Neurilemmoma

Articles related to Melanotic Neurilemmoma:

(show top 50) (show all 204)
# Title Authors PMID Year
1
MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. 61
33444222 2021
2
Novel response to neoadjuvant anti-PD1 therapy for a patient with retrocaval melanotic schwannoma. 61
33323721 2021
3
Diagnostic Pathology of Tumors of Peripheral Nerve. 61
33588442 2021
4
Fine-needle aspiration cytology of melanotic schwannoma in the submandibular gland. 61
32583622 2021
5
Melanotic Schwannoma, a Deceptive Misnomer for a Tumor With Relative Aggressive Behavior: A Series of 7 Cranial and Spinal Cases. 61
32456496 2020
6
Extramedullary malignant melanotic schwannoma of the spine: Case report and an up to date systematic review of the literature. 61
33088497 2020
7
Peripheral Nerve Sheath Tumors of Head and Neck: Imaging-Based Review of World Health Organization Classification. 61
33196600 2020
8
Clinical characteristics and treatment outcomes of pigmented tumors in central nervous system: Focusing on melanocytic tumors. 61
33222976 2020
9
Primary melanotic tumors of the nervous system: a consecutive case series. 61
32654331 2020
10
Dark as night: Spelunking for spinal solitary fibrous tumors/hemangiopericytomas in the differential of T2 hypointensity. 61
32507710 2020
11
Extramedullary melanotic schwannoma recurrence in the cervical vertebral arch: a case report and review of the literature. 61
32809891 2020
12
Intraosseous Melanotic Schwannoma in the Sacrum Mimicking Primary Bone Tumor. 61
32695557 2020
13
A Rare Case of Hemorrhagic Melanotic Schwannoma in a 38-year-old Female. 61
33145235 2020
14
Melanotic Schwannoma of the Vulva: A Case Report and Review of the Literature. 61
31268928 2020
15
Malign melanotic schwannoma of pancreatic metastasis. 61
33425307 2020
16
A Rare Case of Intraspinal Psammomatous Melanotic Schwannoma: A Case Report. 61
32039305 2020
17
Melanotic Schwannoma: Two Cases of Rare Lesions. 61
29740763 2019
18
Brain and spine melanotic schwannoma: A rare occurrence and diagnostic dilemma. 61
31094649 2019
19
Intradural Extramedullary Spinal Neoplasms: Radiologic-Pathologic Correlation. 61
30844353 2019
20
Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex. 61
30632654 2019
21
Pigmented Melanotic Schwannoma of the Neck: Report of 2 Cases and Review of the Literature. 61
30884998 2019
22
Melanotic Schwannoma of the Vagina: A Report of a Very Rare Tumor and Review of the Literature. 61
31316847 2019
23
Pathology of Melanotic Schwannoma. 61
29372846 2018
24
Malignant intercostal psammomatous melanotic schwannoma in a patient with Carney complex. 61
29132201 2018
25
What Tactics Should a Surgeon Choose to Treat a Black Extracerebral Tumor? A Case Report of Psammomatous Melanotic Schwannoma of the Meckel Cave and Literature Review. 61
29715570 2018
26
Invasive intramedullary melanotic schwannoma: case report and review of the literature. 61
28695275 2018
27
A Rare Case of Melanotic Schwannoma: Utility of Susceptibility Weighted Sequences in Preoperative Imaging. 61
30280064 2018
28
Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome. 61
30283573 2018
29
Intramedullary melanotic schwannoma of the cervical spine: A case report and literature review. 61
29564131 2018
30
Laparoscopic resection of a giant retroperitoneal melanotic schwannoma. 61
29599963 2018
31
Intracranial melanotic schwannomas: a rare variant with unusual adherent features. 61
29098570 2018
32
Long-term results of the transmanubrial osteomuscular-sparing approach for pediatric tumors. 61
28409885 2017
33
A Simplified Overview of World Health Organization Classification Update of Central Nervous System Tumors 2016. 61
29204027 2017
34
A Rare Case of Aggressive Melanotic Schwannoma Occurred in Spinal Nerve of a 59-Year-Old Male. 61
28372342 2017
35
[Primary intramedullary melanoma: Case report and literature review]. 61
28237771 2017
36
Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl. 61
28012237 2017
37
Rexin-G®, a tumor-targeted retrovector for malignant peripheral nerve sheath tumor: A case report. 61
28588778 2017
38
Clinical outcomes following resection of giant spinal schwannomas: a case series of 32 patients. 61
28084933 2017
39
Melanotic Schwannomas Are Rarely Seen Pigmented Tumors with Unpredictable Prognosis and Challenging Diagnosis. 61
29109888 2017
40
Pitfalls and uncertain prognosis in pathological diagnosis of psammomatous melanotic schwannoma. 61
27460453 2016
41
Primary Melanotic Schwannoma with Typical Histology. 61
27539769 2016
42
Melanotic schwannoma of the L5 root. 61
26969197 2016
43
Melanotic schwannoma: an 11-year case series. 61
26386847 2016
44
Pigmented Lesions of the Nervous System and the Neural Crest: Lessons From Embryology. 61
26355366 2016
45
Intraspinal psammomatous melanotic schwannoma not associated with Carney complex: case report. 61
25978075 2015
46
Psammomatous Melanotic Schwannoma: A Challenging Histological Diagnosis. 61
27047937 2015
47
Psammomatous melanotic schwannoma as a component of Carney complex. 61
26275268 2015
48
Primary Psammomatous Melanotic Schwannoma of the Spine. 61
26046905 2015
49
Spinal non-melanotic schwannoma with extensive calcifications. 61
25207621 2015
50
Melanotic schwannoma of thoracic spinal root mimics metastatic melanoma: a potential pitfall for misdiagnosis. 61
26339449 2015

Variations for Melanotic Neurilemmoma

ClinVar genetic disease variations for Melanotic Neurilemmoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCB1 NM_003073.5(SMARCB1):c.*82C>T SNV Pathogenic 239481 rs878854600 22:24176449-24176449 22:23834262-23834262

Expression for Melanotic Neurilemmoma

Search GEO for disease gene expression data for Melanotic Neurilemmoma.

Pathways for Melanotic Neurilemmoma

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 PRKAR2B PRKAR2A PRKAR1A POMC PDE8B
2
Show member pathways
12.81 PRKAR2B PRKAR2A PRKAR1A POMC
3
Show member pathways
12.67 PRKAR2B PRKAR2A PRKAR1A NF2
4
Show member pathways
12.3 PRKAR2B PRKAR2A PRKAR1A POMC
5
Show member pathways
12.24 PRKAR2B PRKAR2A PRKAR1A
6
Show member pathways
12.22 PRKAR2B PRKAR2A PRKAR1A
7
Show member pathways
12.17 PRKAR2B PRKAR2A PRKAR1A
8
Show member pathways
12.16 PRKAR2B PRKAR2A PRKAR1A
9 12.15 PRKAR2B PRKAR2A PRKAR1A
10
Show member pathways
12.12 PRKAR2B PRKAR2A PRKAR1A
11
Show member pathways
12.11 PRKAR2B PRKAR2A PRKAR1A
12
Show member pathways
11.99 PRKAR2B PRKAR2A PRKAR1A
13 11.98 PRKAR2B PRKAR2A PRKAR1A
14 11.96 PRKAR2B PRKAR2A PRKAR1A
15 11.94 PRKAR2B PRKAR2A PRKAR1A
16
Show member pathways
11.91 PRKAR2B PRKAR2A PRKAR1A
17 11.89 POMC PDE8B PDE11A
18
Show member pathways
11.86 SMARCB1 PRKAR2B PRKAR2A PRKAR1A
19
Show member pathways
11.81 PRKAR2B PRKAR2A PRKAR1A
20
Show member pathways
11.65 PRKAR2B PRKAR2A PRKAR1A
21 11.59 PRKAR2B PRKAR2A PRKAR1A
22 11.5 PRKAR2B PRKAR2A PRKAR1A
23 11.32 PRKAR2B PRKAR2A PRKAR1A
24 11.27 PRKAR2B PRKAR2A PRKAR1A
25 11.21 PRKAR2B PRKAR2A PRKAR1A
26 11.02 PRKAR2B PRKAR2A PRKAR1A
27 10.84 PRKAR2B PRKAR2A PRKAR1A
28 10.54 PRKAR2B PRKAR2A PRKAR1A POMC
29 10.49 PRKAR2B PRKAR2A PRKAR1A

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 nucleotide-activated protein kinase complex GO:0031588 9.16 PRKAR2A PRKAR1A
3 ciliary base GO:0097546 9.13 PRKAR2B PRKAR2A PRKAR1A
4 cAMP-dependent protein kinase complex GO:0005952 8.92 PRKX PRKAR2B PRKAR2A PRKAR1A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.81 PRKX PRKAR2B PRKAR2A PRKAR1A
2 blood coagulation GO:0007596 9.65 PRKAR2B PRKAR2A PRKAR1A
3 regulation of protein phosphorylation GO:0001932 9.61 PRKAR2B PRKAR2A PRKAR1A
4 renal water homeostasis GO:0003091 9.58 PRKAR2B PRKAR2A PRKAR1A
5 cellular response to glucagon stimulus GO:0071377 9.54 PRKAR2B PRKAR2A PRKAR1A
6 activation of protein kinase A activity GO:0034199 9.5 PRKAR2B PRKAR2A PRKAR1A
7 mesoderm formation GO:0001707 9.49 PRKAR1A NF2
8 regulation of protein kinase activity GO:0045859 9.46 PRKAR2B PRKAR1A
9 regulation of protein kinase A signaling GO:0010738 9.43 PRKAR2B PRKAR2A PRKAR1A
10 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.33 PRKAR2B PRKAR2A PRKAR1A
11 regulation of cAMP-dependent protein kinase activity GO:2000479 9.13 PRKAR2B PRKAR2A PRKAR1A
12 regulation of cAMP-mediated signaling GO:0043949 8.8 PRKAR2B PRKAR2A PRKAR1A

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.71 PRKX PRKAR2B PRKAR2A PRKAR1A
2 protein domain specific binding GO:0019904 9.61 PRKAR2B PRKAR2A PRKAR1A
3 cAMP binding GO:0030552 9.43 PRKAR2B PRKAR2A PRKAR1A
4 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE8B PDE11A
5 protein kinase A catalytic subunit binding GO:0034236 9.33 PRKAR2B PRKAR2A PRKAR1A
6 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.32 PDE8B PDE11A
7 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.13 PRKAR2B PRKAR2A PRKAR1A
8 cAMP-dependent protein kinase regulator activity GO:0008603 8.8 PRKAR2B PRKAR2A PRKAR1A

Sources for Melanotic Neurilemmoma

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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