MCID: NRL005
MIFTS: 60

Neurilemmoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurilemmoma

MalaCards integrated aliases for Neurilemmoma:

Name: Neurilemmoma 12 20 58 44 15 71
Schwannoma 12 20 54 6 17
Benign Schwannoma 20 58 71
Peripheral Fibroblastoma 20 58
Neurilemoma 20 58
Psammomatous Schwannoma 12
Neurolemmoma 20
Schwannomas 15

Characteristics:

Orphanet epidemiological data:

58
benign schwannoma
Prevalence: 1-9/100000 (Europe);

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3192
MeSH 44 D009442
NCIt 50 C3269
SNOMED-CT 67 985004
UMLS via Orphanet 72 C0027809 C0854906
Orphanet 58 ORPHA252164
UMLS 71 C0027809 C0854906

Summaries for Neurilemmoma

GARD : 20 A schwannoma is a tumor of the peripheral nervous system or nerve root. A schwannoma develops from cells called Schwann cells, a type of cell that wraps itself around peripheral nerves and provides protection and support. Schwannomas are almost always benign (not cancerous), but rarely, may become cancerous (a malignant schwannoma). Symptoms of a schwannoma may be vague and will vary depending on its location and size, but may include a lump or bump that can be seen or felt, pain, muscle weakness, tingling, numbness, hearing problems, and/or facial paralysis. Sometimes schwannomas do not cause any symptoms. Schwannomas usually develop in otherwise healthy people for unknown reasons. In some cases, a schwannoma is caused by a genetic disorder such as neurofibromatosis 2 (NF2), schwannomatosis, or Carney complex. People with these genetic disorders usually have more than one schwannoma. Schwannomas may be diagnosed using imaging studies. A biopsy may confirm the diagnosis. Treatment of benign schwannomas may involve surgery to remove the tumor. Treatment of malignant schwannomas may include both surgery and radiation therapy.

MalaCards based summary : Neurilemmoma, also known as schwannoma, is related to melanotic neurilemmoma and peripheral nerve schwannoma. An important gene associated with Neurilemmoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Neuroscience and Cytoskeletal Signaling. The drugs Lapatinib and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include tongue, spinal cord and thyroid, and related phenotypes are abnormal temporal bone morphology and vestibular schwannoma

Wikipedia : 74 A schwannoma is a usually benign nerve sheath tumor composed of Schwann cells, which normally produce... more...

Related Diseases for Neurilemmoma

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

(show top 50) (show all 1107)
# Related Disease Score Top Affiliating Genes
1 melanotic neurilemmoma 32.5 SMARCB1 PRKAR1A NF2
2 peripheral nerve schwannoma 32.4 SMARCB1 NF2 NF1
3 neurilemmoma of the fifth cranial nerve 32.4 NF2 NF1
4 adult malignant schwannoma 32.2 NF2 NF1 CD34
5 schwannoma of twelfth cranial nerve 32.1 SMARCB1 NF2 NF1
6 malignant triton tumor 32.0 S100B NF1
7 acoustic neuroma 31.8 RDX NF2 NF1 MSN EZR
8 cellular schwannoma 31.8 SOX10 SMARCB1 S100A1 NF2 NF1 CD34
9 intraneural perineurioma 31.7 SOX10 S100B S100A1 NF2 MUC1
10 plexiform schwannoma 31.6 SOX10 SMARCB1 NF2 NF1 KIT ENO2
11 hydrocephalus 31.2 SMARCB1 S100B NES GFAP ENO2
12 mesenchymal cell neoplasm 31.1 PDGFRA KIT CD34
13 benign ependymoma 31.0 NF2 NF1 GFAP
14 rare tumor 30.9 NF2 KIT ACTC1
15 spinal meningioma 30.9 SMARCB1 NF2 NF1
16 malignant peripheral nerve sheath tumor 30.9 VIM SOX10 SMARCB1 S100B S100A1 PDGFRA
17 plexiform neurofibroma 30.9 S100B PDGFRA NF2 NF1 KIT
18 neurofibromatosis 30.8 RDX PDGFRA NF2 NF1 MSN
19 secretory meningioma 30.7 VIM SMARCB1 NF2 MUC1
20 angiosarcoma 30.7 VIM MUC1 KIT CD34
21 obstructive hydrocephalus 30.7 NF2 NF1 GFAP ENO2
22 epidural spinal canal neoplasm 30.7 NF2 CD34
23 myoma 30.6 KIT CD34 ACTC1
24 connective tissue benign neoplasm 30.6 KIT ENO2 CD34
25 amelanotic melanoma 30.5 VIM S100B KIT
26 granular cell tumor 30.5 VIM S100B S100A1 GFAP ENO2
27 cellular ependymoma 30.5 VIM S100B NF2 NES MUC1 GFAP
28 monosomy 22 30.5 SMARCB1 NF2
29 leiomyoma 30.5 VIM S100A1 KIT CD34 ACTC1
30 ganglioneuroma 30.5 S100B GFAP ENO2
31 benign mesothelioma 30.4 VIM NF2 CD34
32 cavernous hemangioma 30.4 VIM S100A1 PDGFRA MUC1 KIT CD34
33 perineurioma 30.4 VIM S100B S100A1 PDGFRA MUC1 KIT
34 olfactory neuroblastoma 30.4 VIM S100B ENO2
35 spindle cell sarcoma 30.4 VIM S100B NF2 MUC1 KIT CD34
36 embryonal sarcoma 30.4 VIM S100B KIT
37 fibroma 30.4 VIM S100A1 NF1 CD34 ACTC1
38 hemangioma 30.3 KIT ENO2 CD34 ACTC1
39 parasagittal meningioma 30.3 NF2 CD34
40 neurilemmomatosis 30.3 SOX10 SMARCB1 PRKAR1A NF2 NF1
41 fibrosarcoma 30.3 VIM PDGFRA KIT ACTC1
42 pilocytic astrocytoma 30.3 SOX10 S100B NF1 NES GFAP
43 sarcoma 30.3 VIM SMARCB1 S100B PDGFRA NF2 MUC1
44 gastrointestinal stromal tumor 30.3 VIM SMARCB1 S100B S100A1 PDGFRA NF1
45 liposarcoma 30.2 VIM PDGFRA NF1 CD34
46 optic nerve sheath meningioma 30.2 SMARCB1 NF2 NF1 MSN
47 lipomatosis, multiple 30.2 NF1 KIT CD34
48 benign breast phyllodes tumor 30.2 VIM KIT CD34
49 bednar tumor 30.2 VIM S100B ENO2
50 cystic teratoma 30.2 KIT GFAP ENO2

Graphical network of the top 20 diseases related to Neurilemmoma:



Diseases related to Neurilemmoma

Symptoms & Phenotypes for Neurilemmoma

Human phenotypes related to Neurilemmoma:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal temporal bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0009911
2 vestibular schwannoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0009588
3 peripheral schwannoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0009593
4 abnormality of peripheral nervous system electrophysiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0030177
5 scleral schwannoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100011
6 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
7 hearing abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000364
8 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
9 allodynia 58 31 frequent (33%) Frequent (79-30%) HP:0012533
10 abnormality of the adrenal glands 58 31 occasional (7.5%) Occasional (29-5%) HP:0000834
11 nasal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100582
12 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
13 intestinal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200008
14 abnormality of the larynx 58 31 occasional (7.5%) Occasional (29-5%) HP:0001600
15 abnormality of fibula morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002991
16 abnormal parotid gland morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000197
17 abnormality of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0000769
18 abnormal esophagus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002031
19 acute episodes of neuropathic symptoms 58 31 occasional (7.5%) Occasional (29-5%) HP:0003489
20 abnormality of the twelfth cranial nerve 58 31 occasional (7.5%) Occasional (29-5%) HP:0010826
21 morphological central nervous system abnormality 31 occasional (7.5%) HP:0002011
22 abnormal cranial nerve morphology 58 Very frequent (99-80%)
23 morphological abnormality of the central nervous system 58 Occasional (29-5%)
24 pain 58 Occasional (29-5%)
25 schwannoma 58 Very frequent (99-80%)
26 neurofibrosarcoma 58 Excluded (0%)

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.66 PDGFRA
2 Decreased viability GR00221-A-1 9.66 KIT NF1 PDGFRA PRKAR1A SMARCB1
3 Decreased viability GR00221-A-2 9.66 NF1 PRKAR1A SMARCB1
4 Decreased viability GR00221-A-3 9.66 PDGFRA PRKAR1A SMARCB1
5 Decreased viability GR00221-A-4 9.66 NF1 PDGFRA PRKAR1A
6 Decreased viability GR00249-S 9.66 NF1 PDGFRA SMARCB1
7 Decreased viability GR00301-A 9.66 KIT
8 Decreased viability GR00381-A-1 9.66 SMARCB1
9 Decreased viability GR00386-A-1 9.66 NF1
10 Decreased viability GR00402-S-2 9.66 PDGFRA
11 Decreased cell migration GR00055-A-1 9.26 NF2 PRKAR1A VIM
12 Decreased cell migration GR00055-A-3 9.26 RDX

MGI Mouse Phenotypes related to Neurilemmoma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 ENO2 GFAP KIT MSN NF1 NF2
2 cellular MP:0005384 10.37 ACTC1 CD34 ENO2 GFAP KIT MSN
3 homeostasis/metabolism MP:0005376 10.36 ACTC1 CD34 GFAP KIT MSN NF1
4 immune system MP:0005387 10.21 CD34 EZR GFAP KIT MSN NF1
5 digestive/alimentary MP:0005381 10.15 EZR GFAP KIT NF1 NGFR PDGFRA
6 embryo MP:0005380 10.13 ACTC1 KIT NF1 NF2 PDGFRA PRKAR1A
7 craniofacial MP:0005382 10.11 ACTC1 ENO2 KIT NF1 NF2 NGFR
8 integument MP:0010771 10.1 CD34 KIT NF1 NF2 NGFR PDGFRA
9 muscle MP:0005369 10.07 ACTC1 GFAP KIT NF1 NGFR PDGFRA
10 nervous system MP:0003631 10.03 ACTC1 ENO2 GFAP KIT NF1 NF2
11 normal MP:0002873 9.93 ACTC1 GFAP KIT MSN NF1 NGFR
12 neoplasm MP:0002006 9.92 CD34 KIT NF1 NF2 PDGFRA PRKAR1A
13 respiratory system MP:0005388 9.7 ENO2 KIT MSN NF1 NF2 NGFR
14 vision/eye MP:0005391 9.32 EZR GFAP KIT MSN NF1 NF2

Drugs & Therapeutics for Neurilemmoma

Drugs for Neurilemmoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
3
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
4
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
5
Bevacizumab Approved, Investigational Phase 2 216974-75-3
6
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
7
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
8 Tanezumab Investigational Phase 2 880266-57-9
9 Antibodies, Monoclonal Phase 2
10 Immunoglobulins, Intravenous Phase 2
11 Endostatins Phase 2 71581480
12 Immunoglobulins Phase 2
13 Antibodies Phase 2
14 Analgesics Phase 2
15 Anti-Inflammatory Agents Phase 2
16 Analgesics, Non-Narcotic Phase 2
17 Platelet Aggregation Inhibitors Phase 2
18 Cyclooxygenase Inhibitors Phase 2
19 Fibrinolytic Agents Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2
21 Antirheumatic Agents Phase 2
22 Antipyretics Phase 2
23 Protein Kinase Inhibitors Phase 2
24 Mitogens Phase 2
25 Angiogenesis Inhibitors Phase 2
26 Antineoplastic Agents, Immunological Phase 2
27 Immunosuppressive Agents Phase 2
28 Immunologic Factors Phase 2
29 Endothelial Growth Factors Phase 2
30
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
31
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
32
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
33 Alkylating Agents Phase 1
34 triamcinolone acetonide Phase 1
35 Hormones Phase 1
36 Hormone Antagonists Phase 1
37 Triamcinolone hexacetonide Phase 1
38 glucocorticoids Phase 1
39 Triamcinolone diacetate Phase 1
40 Anesthetics
41 Histone Deacetylase Inhibitors Early Phase 1

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With no Measurable Remaining Vestibular Function Withdrawn NCT02415257 Phase 4 Gentamicin
2 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With Definite Remaining Vestibular Function Withdrawn NCT02379754 Phase 4 Gentamicins
3 Randomized Comparison of Steretotactic Radiosurgery and Hypofractionated Steretotactic Radiotherapy in the Treatment of Vestibular Schwannoma Unknown status NCT01449604 Phase 3
4 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
5 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
6 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
7 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
8 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
9 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
10 A Phase 2 Randomized, Double-blind, Placebo-Controlled Study of the Analgesic Efficacy and Safety of the Subcutaneous Administration of the Anti-NGF Antibody Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis Recruiting NCT04163419 Phase 2 Tanezumab;Placebo
11 Open-label, Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT04283669 Phase 2 Crizotinib
12 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
13 Hearing Outcomes Using Fractionated Proton Radiation Therapy for Vestibular Schwannoma Recruiting NCT01199978 Phase 2
14 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib
15 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
16 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Active, not recruiting NCT02129647 Phase 2 Axitinib
17 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Active, not recruiting NCT01767792 Phase 2 Bevacizumab
18 A Single Arm, Monocenter Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Active, not recruiting NCT01345136 Phase 2 RAD001, everolimus
19 Microscopic Fluorescence-guided Vestibular Schwannoma Resection Using Fluorescein Sodium and YELLOW 560 Not yet recruiting NCT04351373 Phase 2 intravenous fluorescein sodium
20 Phase II Study of Antineoplastons A19 and AS2-1 in Patients With Neurofibroma and Schwannoma Terminated NCT02988726 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
21 A Phase II Study of Nilotinib in Growing Vestibular Schwannomas Terminated NCT01201538 Phase 2 Nilotinib
22 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
23 Targeted Imaging of Glutamate Carboxypeptidase II With DCFPyL-PET Recruiting NCT03542773 Phase 1 18F-DCFPyL Injection
24 Triamcinolone Acetonide Levels in Cochlear Perilymph, Lateral Canal and CSF in Patients With Vestibular Schwannomas Recruiting NCT04658836 Phase 1 Triamcinolone Acetonide 40mg/mL
25 Phase I Trial of Super-Selective Intraarterial Cerebral Infusion of Bevacizumab (Avastin) for Treatment of Vestibular Schwannoma (Acoustic Neuroma) Suspended NCT01083966 Phase 1 Bevacizumab (Avastin)
26 INTEREST OF INTRAVENOUS INJECTION OF GADOLINIUM IN EXPLORATION INTRA-LABYRINTHINE SCHWANNOMA IN MRI 3 TESLAS Unknown status NCT03580850
27 Saccular Dilatation, Endolymphatic Hydrops and Vestibular Schwannoma : is Vertigo Really Correlated to the Tumor ? A Retrospective Study Based on FIESTA-C Sequence Using a 3 Tesla MRI Unknown status NCT03593577
28 Scleral Hydrops and Intralabyrinthine Schwannoma Unknown status NCT03581396
29 Evaluation of the Influence of Psychological Factors on Balance Control Compensation After Vestibular Schwannoma Surgery Unknown status NCT01743248
30 Assessment of the Preoperative Vestibular Rehabilitation Effectiveness on Balance Control Compensation After Vestibular Schwannoma Surgery Unknown status NCT02275325
31 Response Prediction After Gamma Knife Surgery (GKS) in Patients With Vestibular Schwannoma Using Dynamic Contrast-Enhanced (DCE) MR Imaging Unknown status NCT03097822
32 Vertigo Symptoms, Balance and Vestibular Function in Patients With Vestibular Schwannoma Unknown status NCT03346889
33 Consequence of Unilateral Vestibular Loss on Visual Abilities Unknown status NCT03581331
34 NF2 Natural History Consortium Unknown status NCT00004483
35 Protocol for Evaluating a Planning Algorithm for Gamma Knife Radiosurgery Unknown status NCT03520829
36 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
37 Vegetative Monitoring During Brainstem-associated Surgery Unknown status NCT03666507
38 Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas Completed NCT01880749 Early Phase 1 RAD001
39 Exploration and Estimation of Intratumoral Concentration and Activity of Lapatinib in Vivo in Vestibular Schwannomas Completed NCT00863122 Early Phase 1 lapatinib
40 Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data Completed NCT03210285
41 Alternatives to The Surgical Approach for Giant Spinal Schwannomas: A Clinic Trial Completed NCT02494622
42 Assessment of Volumetric Growth Rates of Spinal Intradural Extramedullary Schwannoma: A Longitudinal Study of Natural History Completed NCT01951365
43 Assessment of Visual Sensitivity, Psychiatric Profile and Quality of Life Following Vestibular Schwannoma Surgery in Patients Prehabituated by Chemical Vestibular Ablation Completed NCT03638310
44 Vertigo Perception and Quality of Life in Patients After Surgical Treatment of Vestibular Schwannoma With Pretreatment Prehabituation by Chemical Vestibular Ablation Completed NCT02963896 gentamicin
45 Vestibular Evaluation Before and After Treatment of Vestibular Schwannoma. Comparison of Gamma Knife Radiosurgery and Microsurgical Resection Completed NCT03670589
46 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
47 Hippocampal Radiation Exposure and Memory: A Pilot Study Completed NCT00603694
48 Recovery of Visual Acuity in Vestibular Deficits Completed NCT00411216
49 Evolution of Cochleovestibular Schwannomas in the Internal Auditory Canal by Volume Measering With aTeslas MRI 3 Recruiting NCT04417868
50 The Accuracy of Advanced Probabilistic Diffusion Tensor Tractography (DTT) for the Pre-operative Identification of Facial Nerve Position in Patients With Extrameatal Vestibular Schwannomas. Recruiting NCT04057976

Search NIH Clinical Center for Neurilemmoma

Cochrane evidence based reviews: neurilemmoma

Genetic Tests for Neurilemmoma

Anatomical Context for Neurilemmoma

MalaCards organs/tissues related to Neurilemmoma:

40
Tongue, Spinal Cord, Thyroid, Colon, Small Intestine, Skin, Pancreas

Publications for Neurilemmoma

Articles related to Neurilemmoma:

(show top 50) (show all 12135)
# Title Authors PMID Year
1
Merlin knockdown in human Schwann cells: clues to vestibular schwannoma tumorigenesis. 61 54
20195187 2010
2
Palisaded encapsulated ("solitary circumscribed") neuroma of the oral cavity: a review of 55 cases. 54 61
20237984 2010
3
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. 54 61
20178741 2010
4
NF2/merlin is a novel negative regulator of mTOR complex 1, and activation of mTORC1 is associated with meningioma and schwannoma growth. 54 61
19451225 2009
5
Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve. 61 54
19654968 2009
6
PAK kinase regulates Rac GTPase and is a potential target in human schwannomas. 54 61
19409384 2009
7
Gastric schwannoma with adjacent external progression harbored aberrant NF2 gene. 54 61
19691769 2009
8
Human schwannomas express activated platelet-derived growth factor receptors and c-kit and are growth inhibited by Gleevec (Imatinib Mesylate). 54 61
19509233 2009
9
Actin expression in neural crest cell-derived tumors including schwannomas, malignant peripheral nerve sheath tumors, neurofibromas and melanocytic tumors. 54 61
19154261 2009
10
Altered adhesive structures and their relation to RhoGTPase activation in merlin-deficient Schwannoma. 61 54
18445079 2009
11
Expanded endoscopic endonasal resection of an olfactory schwannoma. 61 54
18831660 2008
12
Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation. 54 61
18786246 2008
13
Benign schwannoma of the liver: a case report. 61 54
18756066 2008
14
Dissecting and targeting the growth factor-dependent and growth factor-independent extracellular signal-regulated kinase pathway in human schwannoma. 54 61
18593924 2008
15
Perirenal schwannoma: a case report. 61 54
18518995 2008
16
Diagnostic implications of podoplanin expression in peripheral nerve sheath neoplasms. 61 54
18480004 2008
17
Impaired intercellular adhesion and immature adherens junctions in merlin-deficient human primary schwannoma cells. 54 61
18240308 2008
18
Point mutation in the NF2 gene of HEI-193 human schwannoma cells results in the expression of a merlin isoform with attenuated growth suppressive activity. 54 61
17868749 2008
19
Genesis and biology of vestibular schwannomas. 61 54
18810196 2008
20
Schwannoma of the lip: case report and review of the literature. 54 61
18758646 2008
21
Actin-rich protrusions and nonlocalized GTPase activation in Merlin-deficient schwannomas. 54 61
17620986 2007
22
Treatment of implantable NF2 schwannoma tumor models with oncolytic herpes simplex virus G47Delta. 54 61
17304235 2007
23
Phosphorylation of the NF2 tumor suppressor in Schwann cells is mediated by Cdc42-Pak and requires paxillin binding. 54 61
17175165 2007
24
Intracranial angiosarcoma arising from a schwannoma. 54 61
16995966 2007
25
Esophageal schwannoma: report of a case. 54 61
17522770 2007
26
Melanotic nonpsammomatous trigeminal schwannoma as the first manifestation of Carney complex: case report. 54 61
17277668 2006
27
Differential gene expression between human schwannoma and control Schwann cells. 54 61
17083475 2006
28
Down-regulation of Sox10 with specific small interfering RNA promotes transdifferentiation of Schwannoma cells into myofibroblasts. 54 61
17177851 2006
29
Primary intraosseous melanotic schwannoma of the fibula associated with the Carney complex. 61 54
16930334 2006
30
A functional association between merlin and HEI10, a cell cycle regulator. 61 54
16532029 2006
31
Schwannoma of the adrenal gland: report of two cases. 54 61
16699318 2006
32
Expression of doublecortin in tumours of the central and peripheral nervous system and in human non-neuronal tissues. 61 54
16520969 2006
33
Contiguous conventional and plexiform schwannomas. Report of two cases. 61 54
16509508 2006
34
Keratin expression in schwannoma; a study of 115 retroperitoneal and 22 peripheral schwannomas. 54 61
16357842 2006
35
The mitogen-activated protein kinase/extracellular signal-regulated kinase kinase inhibitor PD184352 (CI-1040) selectively induces apoptosis in malignant schwannoma cell lines. 54 61
16239399 2006
36
Treatment of schwannomas with an oncolytic recombinant herpes simplex virus in murine models of neurofibromatosis type 2. 54 61
16409122 2006
37
Primary intratracheal neurilemmoma in children: case report and literature review. 54 61
16175598 2005
38
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. 61 54
16078050 2005
39
Pigmented neurofibroma: review of Japanese patients with an analysis of melanogenesis demonstrating coexpression of c-met protooncogene and microphthalmia-associated transcription factor. 61 54
16112003 2005
40
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues. 61 54
15930266 2005
41
Subfrontal schwannoma. 61 54
15824881 2005
42
Rearrangements of the intermediate filament GFAP in primary human schwannoma cells. 54 61
15837555 2005
43
Temporally regulated neural crest transcription factors distinguish neuroectodermal tumors of varying malignancy and differentiation. 54 61
16036108 2005
44
Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas. 54 61
15609345 2005
45
Nuclear translocation of the p75 neurotrophin receptor cytoplasmic domain in response to neurotrophin binding. 54 61
15703394 2005
46
[Gastrointestinal stromal tumor: a clinicopathological study of 74 cases]. 54 61
15796874 2005
47
Reduced apoptosis rates in human schwannomas. 61 54
15779232 2005
48
Neurofibromatosis 2 (NF2) tumor suppressor merlin inhibits phosphatidylinositol 3-kinase through binding to PIKE-L. 61 54
15598747 2004
49
Gastric schwannoma. 54 61
15720074 2004
50
Subfrontal schwannoma without hyposmia--case report. 54 61
15686179 2004

Variations for Neurilemmoma

ClinVar genetic disease variations for 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

Copy number variations for Neurilemmoma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 163102 22 24129150 24176704 Deletion or amplification SMARCB1 Schwannoma

Expression for Neurilemmoma

Search GEO for disease gene expression data for Neurilemmoma.

Pathways for Neurilemmoma

GO Terms for Neurilemmoma

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 VIM SOX10 RDX PRKAR1A PDGFRA NGFR
2 extracellular space GO:0005615 10.14 S100B RDX MUC1 MSN KIT EZR
3 cytoskeleton GO:0005856 10.09 VIM RDX NF2 MSN GFAP EZR
4 cell projection GO:0042995 9.97 VIM RDX PDGFRA NGFR NF2 MSN
5 focal adhesion GO:0005925 9.88 VIM RDX MSN EZR ACTC1
6 apical plasma membrane GO:0016324 9.83 RDX MUC1 MSN EZR CD34
7 apical part of cell GO:0045177 9.7 NF2 MSN EZR
8 intermediate filament cytoskeleton GO:0045111 9.63 VIM NES GFAP
9 cell body GO:0044297 9.62 NF2 GFAP EZR ACTC1
10 cytoplasm GO:0005737 9.6 VIM SOX10 S100B S100A1 RDX PRKAR1A
11 microvillus GO:0005902 9.56 RDX PDGFRA MSN EZR
12 uropod GO:0001931 9.51 MSN EZR
13 cell periphery GO:0071944 9.46 RDX MSN EZR CD34
14 cell tip GO:0051286 9.4 RDX EZR
15 filopodium GO:0030175 9.35 RDX NF2 MSN EZR ACTC1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.76 RDX MSN KIT EZR
2 negative regulation of protein kinase activity GO:0006469 9.73 PRKAR1A NF2 NF1
3 regulation of cell size GO:0008361 9.58 RDX MSN EZR
4 positive regulation of phospholipase C activity GO:0010863 9.57 PDGFRA KIT
5 cardiac myofibril assembly GO:0055003 9.55 PDGFRA ACTC1
6 stem cell proliferation GO:0072089 9.54 NES CD34
7 establishment of endothelial barrier GO:0061028 9.54 RDX MSN EZR
8 Bergmann glial cell differentiation GO:0060020 9.52 VIM GFAP
9 gland morphogenesis GO:0022612 9.51 MSN EZR
10 positive regulation of cellular protein catabolic process GO:1903364 9.5 RDX MSN EZR
11 positive regulation of histone H4 acetylation GO:0090240 9.49 SMARCB1 MUC1
12 membrane to membrane docking GO:0022614 9.48 MSN EZR
13 intermediate filament-based process GO:0045103 9.43 VIM GFAP
14 positive regulation of protein localization to early endosome GO:1902966 9.43 RDX MSN EZR
15 positive regulation of early endosome to late endosome transport GO:2000643 9.33 RDX MSN EZR
16 positive regulation of gene expression GO:0010628 9.23 VIM SOX10 RDX MSN KIT EZR
17 regulation of organelle assembly GO:1902115 9.13 RDX MSN EZR

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 VIM SOX10 SMARCB1 S100B S100A1 RDX
2 ATPase binding GO:0051117 9.33 S100A1 RDX EZR
3 protein kinase A catalytic subunit binding GO:0034236 9.32 PRKAR1A EZR
4 cytoskeletal protein binding GO:0008092 9.26 RDX NF2 MSN EZR
5 S100 protein binding GO:0044548 8.8 S100B S100A1 EZR

Sources for 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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