MCID: PLX002
MIFTS: 43

Plexiform Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Plexiform Neurofibroma

MalaCards integrated aliases for Plexiform Neurofibroma:

Name: Plexiform Neurofibroma 12 6 15 17 71
Neurofibroma, Plexiform 44
Neurofibroma Plexiform 54

Classifications:



External Ids:

Disease Ontology 12 DOID:5151
MeSH 44 D018318
NCIt 50 C3797
SNOMED-CT 67 41252002
UMLS 71 C0206728

Summaries for Plexiform Neurofibroma

MalaCards based summary : Plexiform Neurofibroma, also known as neurofibroma, plexiform, is related to neurofibromatosis and rare tumor. An important gene associated with Plexiform Neurofibroma is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are Human T-cell leukemia virus 1 infection and Central carbon metabolism in cancer. The drugs Vinblastine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include tongue, salivary gland and skin, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Plexiform Neurofibroma

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

(show top 50) (show all 267)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 31.8 SPRED1 PDGFRA NF2 NF1 CDKN2B-AS1
2 rare tumor 30.9 NF2 KIT
3 neurofibroma 30.7 TP53 S100B RARRES1 PDGFRA NF2 NF1
4 plexiform schwannoma 30.3 NF2 NF1 KIT
5 neuroma 30.3 S100B NF2 NF1 ANK3
6 cellular schwannoma 30.3 NF2 NF1
7 lipomatosis, multiple 30.2 SPRED1 NF1 KIT
8 neurilemmoma 30.2 S100B PDGFRA NF2 NF1 KIT
9 neurilemmomatosis 30.1 SPRED1 NF2 NF1 CDKN2A
10 glioma 29.9 TP53 PDGFRA NF1 CDKN2B-AS1 CDKN2A
11 optic nerve glioma 29.9 S100B NFIC NF2 NF1
12 neurofibrosarcoma 29.7 TP53 NFIC NF2 NF1 CDKN2A
13 atypical neurofibroma 29.5 SUZ12 NF1 LRRC37B CDKN2A
14 gastrointestinal stromal tumor 29.3 TP53 S100B PDGFRA NF1 KIT CDKN2A
15 malignant peripheral nerve sheath tumor 29.2 TP53 S100B PDGFRA PBK NF2 NF1
16 neurofibromatosis, type i 29.1 TP53 SUZ12 SPRED1 S100B PDGFRA NFIC
17 peripheral nervous system disease 28.7 TP53 S100B NF2 NF1 KIT EGR2
18 epithelioid neurofibroma 10.4 NF2 NF1
19 neurilemmoma of the fifth cranial nerve 10.4 NF2 NF1
20 trigeminal nerve neoplasm 10.4 NF2 NF1
21 cerebral falx meningioma 10.4 NF2 NF1
22 peripheral nerve schwannoma 10.4 NF2 NF1
23 optic nerve sheath meningioma 10.4 NF2 NF1
24 polyp of corpus uteri 10.4 NF2 NF1
25 exophthalmos 10.4
26 schwannoma of twelfth cranial nerve 10.4 NF2 NF1
27 mechanical ectropion 10.4 NFIC NF1
28 hypoglossal nerve disease 10.4 NF2 NF1
29 cellular neurofibroma 10.4 SUZ12 NF1
30 orbital cancer 10.3 NF2 NF1
31 ptosis 10.3
32 overgrowth syndrome 10.3
33 malignant peritoneal mesothelioma 10.3 NF2 CDKN2A
34 optic nerve neoplasm 10.3 NFIC NF2 NF1
35 vulvar melanoma 10.3 NF1 KIT
36 deep leiomyoma 10.3 PDGFRA KIT
37 gastric leiomyoma 10.3 PDGFRA KIT
38 gastric leiomyosarcoma 10.3 PDGFRA KIT
39 small intestinal sarcoma 10.3 PDGFRA KIT
40 colon leiomyosarcoma 10.3 PDGFRA KIT
41 skin granular cell tumor 10.3 SPRED1 NF1
42 pulmonary vein stenosis 10.3 PDGFRA KIT
43 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.2 PDGFRA KIT
44 mucinous stomach adenocarcinoma 10.2 NF2 KIT
45 spinal cord oligodendroglioma 10.2 TP53 NF1
46 hypereosinophilic syndrome, idiopathic 10.2 PDGFRA KIT
47 chondroma 10.2 PDGFRA NF1 KIT
48 myelodysplastic/myeloproliferative neoplasm 10.2 PDGFRA NF1 KIT
49 paraganglioma and gastric stromal sarcoma 10.2 PDGFRA NF1 KIT
50 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2

Graphical network of the top 20 diseases related to Plexiform Neurofibroma:



Diseases related to Plexiform Neurofibroma

Symptoms & Phenotypes for Plexiform Neurofibroma

GenomeRNAi Phenotypes related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 9.97 NF2
2 Decreased viability GR00173-A 9.97 PDGFRA
3 Decreased viability GR00221-A-1 9.97 BUB1B CDKN2A KIT NF1 PDGFRA SUZ12
4 Decreased viability GR00221-A-2 9.97 BUB1B NF1 SUZ12
5 Decreased viability GR00221-A-3 9.97 BUB1B CDKN2A PDGFRA DHH NF2 PBK
6 Decreased viability GR00221-A-4 9.97 CDKN2A NF1 PDGFRA PBK
7 Decreased viability GR00249-S 9.97 NF1 PDGFRA SUZ12 NF2
8 Decreased viability GR00301-A 9.97 BUB1B KIT
9 Decreased viability GR00342-S-1 9.97 PBK
10 Decreased viability GR00386-A-1 9.97 NF1 SUZ12
11 Decreased viability GR00402-S-2 9.97 PDGFRA

MGI Mouse Phenotypes related to Plexiform Neurofibroma:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ANK3 BUB1B CDKN2A EGR2 KIT NEK2
2 integument MP:0010771 10.17 BUB1B CDKN2A EGR2 KIT MMP13 NF1
3 embryo MP:0005380 10.11 BUB1B CDKN2A EGR2 KIT NF1 NF2
4 nervous system MP:0003631 10.1 ANK3 CDKN2A DHH EGR2 KIT NF1
5 craniofacial MP:0005382 10.08 EGR2 KIT NF1 NF2 NFIC PDGFRA
6 neoplasm MP:0002006 9.97 BUB1B CDKN2A KIT NF1 NF2 PDGFRA
7 limbs/digits/tail MP:0005371 9.95 EGR2 KIT MMP13 NF1 PDGFRA SPRED1
8 reproductive system MP:0005389 9.85 BUB1B CDKN2A DHH EGR2 KIT NF1
9 pigmentation MP:0001186 9.73 CDKN2A KIT NF1 PDGFRA SUZ12 TP53
10 respiratory system MP:0005388 9.65 ANK3 BUB1B CDKN2A EGR2 KIT NF1
11 skeleton MP:0005390 9.36 BUB1B CDKN2A EGR2 KIT MMP13 NF1

Drugs & Therapeutics for Plexiform Neurofibroma

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

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vinblastine Approved Phase 2 865-21-4 13342 241903
2
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
3
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
4
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
5
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
8
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
9
Trametinib Approved Phase 1, Phase 2 871700-17-3 11707110
10
Dabrafenib Approved, Investigational Phase 1, Phase 2 1195765-45-7 44462760 44516822
11
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
12
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Threonine Approved, Nutraceutical Phase 2 72-19-5 6288
15
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
16
tipifarnib Investigational Phase 2 192185-72-1 159324
17
Cediranib Investigational Phase 2 288383-20-0 9933475
18
Maleic acid Experimental Phase 2 110-16-7 444266
19 Folic Acid Antagonists Phase 2
20 Vitamin B Complex Phase 2
21 Antimetabolites Phase 2
22 Antimitotic Agents Phase 2
23 Vitamin B9 Phase 2
24 Antirheumatic Agents Phase 2
25 Tubulin Modulators Phase 2
26 Folate Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Analgesics Phase 2
29 Analgesics, Non-Narcotic Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Antiviral Agents Phase 2
32 Antifungal Agents Phase 2
33 Antibiotics, Antitubercular Phase 2
34 Anti-Infective Agents Phase 2
35 Anti-Bacterial Agents Phase 2
36 Pharmaceutical Solutions Phase 1, Phase 2
37 Mitogens Phase 1, Phase 2
38 Immunosuppressive Agents Phase 2
39 Immunologic Factors Phase 2
40 Protein Kinase Inhibitors Phase 2
41 Imatinib Mesylate Phase 2 220127-57-1 123596
42 Angiogenesis Inhibitors Phase 2
43
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951
44
Acetaminophen Approved Phase 1 103-90-2 1983
45
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239 406563
46
Peginterferon alfa-2a Approved, Investigational Phase 1 198153-51-4 5360545
47 Talaporfin Investigational Phase 1 110230-98-3
48 Antipyretics Phase 1
49 Interferon-alpha Phase 1
50 interferons Phase 1

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
2 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
3 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
4 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
5 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
6 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
7 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
8 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
9 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
10 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
11 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
12 Phase I/II Trial of PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2 PLX3397
13 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Recruiting NCT03962543 Phase 2 Mirdametinib (PD-0325901) oral capsule or dispersible tablet
14 Treatment of NF1-related Plexiform Neurofibroma With Trametinib; a Single Arm, Open-label Trial With the Goals of Volumetric Partial Remission and Pain Relief Recruiting NCT03741101 Phase 2 Trametinib
15 A Phase 2 Study of Trametinib for Patients With Pediatric Glioma or Plexiform Neurofibroma With Refractory Tumor and Activation of the MAPK/ERK Pathway. Recruiting NCT03363217 Phase 1, Phase 2 Trametinib
16 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
17 Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT02407405 Phase 2 Selumetinib
18 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
19 SARC031: A Phase 2 Trial of the MEK Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in Combination With the mTOR Inhibitor Sirolimus for Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Recruiting NCT03433183 Phase 2 Selumetinib;Sirolimus
20 An Open-Label, Dose-Escalation, Phase I/II Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics and Clinical Activity of the MEK Inhibitor Trametinib in Children and Adolescents Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Children and Adolescents With Cancers Harboring V600 Mutations Active, not recruiting NCT02124772 Phase 1, Phase 2 Trametinib;Dabrafenib
21 A Phase I/II Study of the Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; HYD Sulfate) in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Active, not recruiting NCT01362803 Phase 1, Phase 2 AZD6244
22 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Active, not recruiting NCT02101736 Phase 2 Cabozantinib
23 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Active, not recruiting NCT03231306 Phase 2 Binimetinib
24 A Phase II Study of RAD001 in the Treatment of Patients With Plexiform Neurofibromas (PN) Associated With Neurofibromatosis Type 1 (NF1) Terminated NCT01365468 Phase 2 Everolimus (RAD001)
25 Phase II Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Terminated NCT02177825 Phase 2 Imatinib Mesylate
26 A Pilot Study of Sutent®/Sunitinib (SU11248), an Oral Multi-Targeted Tyrosine Kinase Inhibitor in Subjects With NF-1 Plexiform Neurofibromas Terminated NCT01402817 Phase 2 Sutent®/Sunitinib
27 A Phase II Study of AZD2171 in Adult Patients With Neurofibromatosis Type 1 and Extensive Plexiform and Paraspinal Neurofibromas Terminated NCT00326872 Phase 2 Cediranib Maleate
28 Phase I Trial Of Pirfenidone In Children With Neurofibromatosis Type 1 And Plexiform Neurofibromas Completed NCT00053937 Phase 1 pirfenidone
29 A Phase I, Open-label, Single-center Relative Bioavailability and Food Effect Randomized Crossover Study of New Granule and Capsule Formulations of Selumetinib (AZD6244) in Healthy Male Subjects Completed NCT03649165 Phase 1 Treatment A;Treatment B;Treatment C;Treatment D;Acetaminophen
30 Phase I Trial of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib (BAY 43-9006, Nexavar) in Children and Young Adults With Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas Completed NCT00727233 Phase 1 Nexavar (BAY 43-9006) (Sorafenib);Toxicity, Pharmacokinetics;Pharmacodynamics;Radiographic Evaluation;QOL assessment, Neuropsychological;Bony Toxicity
31 A Phase I Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00253474 Phase 1
32 Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1: Clinical, Histopathologic, and Genomic Analysis Completed NCT02211768 Phase 1 [18F]-FLT-PET/CT scans
33 A Phase 1 Open Label Study to Assess the Safety, Tolerability, Pharmacokinetics and Clinical Efficacy of Selumetinib, a Selective Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor, in Chinese Paediatric and Adult Subjects With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Recruiting NCT04590235 Phase 1 Selumetinib
34 A Phase 1 Open Label Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Selumetinib, a Selective Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor, in Japanese Paediatric Subjects With Neurofibromatosis Type 1 (NF1) and Inoperable and Symptomatic Plexiform Neurofibromas (PN) Active, not recruiting NCT04495127 Phase 1 Selumetinib
35 Phase I Clinical Study of the Safety of Photodynamic Therapy (PDT) Using Intratumoral Delivery of Non-coherent Light for Photoactivation of LS11 in Children With Plexiform Neurofibromas Terminated NCT00716469 Phase 1 LS11
36 Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach. Unknown status NCT02777775
37 An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1 With Inoperable, Progressive/Symptomatic Plexiform Neurofibromas (PN) Approved for marketing NCT03259633 Selumetinib
38 Natural History of Plexiform in Neurofibromatosis Type I Completed NCT00006435
39 Childhood Cancer and Plexiform Neurofibroma Tissue Microarray for Molecular Target Screening and Clinical Drug Development Completed NCT00340522
40 Pilot Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01275586 Early Phase 1 Tasigna
41 Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs) Recruiting NCT02544022
42 Pilot Study of Medication Adherence in Children, Adolescents, and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Recruiting NCT03531814
43 Frameshift Peptides of Children With Neurofibromatosis Type 1 (NF1) and Either Low-Grade Gliomas or Plexiform Neurofibromas Recruiting NCT04212351
44 Pilot Study of [18F] Fluorodeoxyglucose Positron Emission Tomography- Magnetic Resonance Imaging (FDG-PET-MRI) in CNS and Extra-CNS Tumors of Patients With Neurofibromatosis-1 (NF1) Active, not recruiting NCT01800032
45 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Active, not recruiting NCT00924196
46 Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden Enrolling by invitation NCT03820778
47 Novel Imaging Modalities For Plexiform Neurofibromas Terminated NCT00060008
48 Clinical Sequencing of Cancer and Tissue Repository: ClinOmics Withdrawn NCT03027401

Search NIH Clinical Center for Plexiform Neurofibroma

Cochrane evidence based reviews: neurofibroma, plexiform

Genetic Tests for Plexiform Neurofibroma

Anatomical Context for Plexiform Neurofibroma

MalaCards organs/tissues related to Plexiform Neurofibroma:

40
Tongue, Salivary Gland, Skin, Prostate, Uterus, Eye, Spinal Cord

Publications for Plexiform Neurofibroma

Articles related to Plexiform Neurofibroma:

(show top 50) (show all 745)
# Title Authors PMID Year
1
Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1. 61 54
19414372 2009
2
NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. 61 54
17215493 2007
3
Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expression. 54 61
16536802 2006
4
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. 61 54
14673600 2004
5
Aberrant CpG island methylation in neurofibromas and neurofibrosarcomas. 54 61
12883734 2003
6
Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. 54 61
10469433 1999
7
Paediatric bladder neurofibroma on bilateral ureterostomy: rare case report-strategic management. 61
33608336 2021
8
MicroRNA-155 contributes to plexiform neurofibroma growth downstream of MEK. 61
33293695 2021
9
Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1. 61
33540839 2021
10
Diagnostic Pathology of Tumors of Peripheral Nerve. 61
33588442 2021
11
Mediastinal mass in an tuberculosis-exposed 2-year old child with neurofibromatosis type 1 - TB or not TB? 61
33364157 2021
12
Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins. 61
33108355 2021
13
The challenging management of an assident parotid tumor: a case of solitary plexiform neurofibroma of the parotid facial nerve. 61
33568323 2021
14
Plexiform Neurofibroma of the Uterus: A Case Report. 61
31688245 2021
15
Congenital cutaneous neurofibromas in neurofibromatosis type 1: Clinicopathological features in early infancy. 61
33448128 2021
16
Limitations and benefits of FDG-PET/CT in NF1 patients with nerve sheath tumors: A cross-sectional/longitudinal study. 61
33415792 2021
17
Sphenoid Bone Pneumatisation on Lateral Cephalograms of Patients With Neurofibromatosis Type 1. 61
33402484 2021
18
Circulating free DNA in the plasma of individuals with neurofibromatosis type 1. 61
33484105 2021
19
Combined Inhibition of SHP2 and MEK Is Effective in Models of NF1-Deficient Malignant Peripheral Nerve Sheath Tumors. 61
33032988 2020
20
Modeling tumors of the peripheral nervous system associated with Neurofibromatosis type 1: Reprogramming plexiform neurofibroma cells. 61
33160273 2020
21
A rare case of plexiform neurofibroma of the liver in a patient without neurofibromatosis type 1. 61
32918724 2020
22
Ossifying Subperiosteal Hematoma Caused by a Plexiform Neurofibroma. 61
33200110 2020
23
An unusual presentation and treatment of a hemorrhaging plexiform neurofibroma. 61
33221111 2020
24
Correction: Genetic disruption of the small GTPase RAC1 prevents plexiform neurofibroma formation in mice with neurofibromatosis type 17. 61
33188083 2020
25
Plexiform neurofibromatosis of penis: a rare presentation of type 1 neurofibromatosis. 61
33203782 2020
26
Craniofacial bone alterations in patients with neurofibromatosis type 1. 61
32583151 2020
27
Image segmentation of plexiform neurofibromas from a deep neural network using multiple b-value diffusion data. 61
33082502 2020
28
Massive spontaneous haemorrhage in a plexiform neurofibroma: A case report and discussion of the literature. 61
33099350 2020
29
Esthetic subunit approach in massive facial plexiform neurofibroma: a case report. 61
33016662 2020
30
Staged Ear Transfer and Reconstruction in a Severe Case of Neurofibromatosis Type 1. 61
33173680 2020
31
Treatment of MEK inhibitor-induced paronychia with doxycycline. 61
32644232 2020
32
Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report. 61
32913647 2020
33
Postauricular Masses. 61
32604279 2020
34
Circumscribed Area of Leukotrichia over Plexiform Neurofibroma: An Important Clue or Mere Coincidence? 61
33235859 2020
35
Unusual cause of laryngeal dyspnea and swallowing troubles in a 2-year old child. 61
32875775 2020
36
Early administration of imatinib mesylate reduces plexiform neurofibroma tumor burden with durable results after drug discontinuation in a mouse model of neurofibromatosis type 1. 61
32459399 2020
37
Early Diagnosis and Intervention for Airway-Obstructing Neonatal Plexiform Neurofirbomatosis. 61
32541267 2020
38
Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1. 61
32027426 2020
39
Translating current basic research into future therapies for neurofibromatosis type 1. 61
32439933 2020
40
Genetic disruption of the small GTPase RAC1 prevents plexiform neurofibroma formation in mice with neurofibromatosis type 1 61
32471868 2020
41
Embolization of a hemorrhaging abdominal plexiform neurofibroma. 61
32675983 2020
42
New insights into the neurofibroma tumor cells of origin. 61
32642729 2020
43
Intraparotid facial nerve plexiform neurofibroma in a child (case report). 61
32435474 2020
44
Giant intradural plexiform schwannoma of the lumbosacral spine - a case report and literature review. 61
32652976 2020
45
[Management of cervico-cephalic plexiform neurofibromas: About 35 cases]. 61
32295731 2020
46
Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg. 61
32487640 2020
47
Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi. 61
32246533 2020
48
Surgery combined with embolization in the treatment of plexiform neurofibroma: Case report and literature review. 61
32382647 2020
49
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review. 61
31350851 2020
50
Orbital malformation with dysplastic infraorbital artery in neurofibromatosis type 1. 61
32370622 2020

Variations for Plexiform Neurofibroma

ClinVar genetic disease variations for Plexiform Neurofibroma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.5750-1G>A SNV Likely pathogenic 374204 rs1057518974 17:29661855-29661855 17:31334837-31334837

Copy number variations for Plexiform Neurofibroma from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109397 17 25800000 31800000 Deletion NF1 Plexiform neurofibroma
2 109445 17 26082 26121 Microdeletion SUZ12 Plexiform neurofibroma
3 109456 17 26183 26246 Microdeletion ATAD5 Plexiform neurofibroma
4 109470 17 26273 26310 Microdeletion ADAP2 Plexiform neurofibroma
5 109475 17 26322 26351 Microdeletion RNF135 Plexiform neurofibroma
6 109535 17 26645 26648 Microdeletion OMG Plexiform neurofibroma
7 109543 17 26668 26672 Microdeletion EVI2A Plexiform neurofibroma
8 109598 17 27203 27210 Microdeletion COPRS Plexiform neurofibroma

Expression for Plexiform Neurofibroma

Search GEO for disease gene expression data for Plexiform Neurofibroma.

Pathways for Plexiform Neurofibroma

Pathways related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.8 TP53 EGR2 CDKN2A BUB1B
2 11.28 TP53 PDGFRA KIT
3 11.07 TP53 PDGFRA NF2 NF1 CDKN2A
4 10.84 TP53 PDGFRA CDKN2A

GO Terms for Plexiform Neurofibroma

Biological processes related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.88 TP53 KIT CDKN2B-AS1 CDKN2A ANK3
2 negative regulation of cell proliferation GO:0008285 9.8 TP53 RARRES1 NF2 NF1 CDKN2A
3 phosphorylation GO:0016310 9.73 PDGFRA PBK NEK2 KIT CDKN2A BUB1B
4 Ras protein signal transduction GO:0007265 9.63 TP53 NF1 CDKN2A
5 MAPK cascade GO:0000165 9.55 SPRED1 PDGFRA PBK NF1 KIT
6 hematopoietic progenitor cell differentiation GO:0002244 9.54 TP53 PDGFRA KIT
7 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.52 SPRED1 CDKN2A
8 positive regulation of phospholipase C activity GO:0010863 9.51 PDGFRA KIT
9 Leydig cell differentiation GO:0033327 9.49 PDGFRA DHH
10 somatic stem cell division GO:0048103 9.43 KIT CDKN2A
11 negative regulation of neuroblast proliferation GO:0007406 9.32 TP53 NF1
12 negative regulation of MAPK cascade GO:0043409 9.13 SPRED1 NF2 NF1
13 negative regulation of protein kinase activity GO:0006469 8.92 SPRED1 NF2 NF1 CDKN2A

Molecular functions related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TP53 SUZ12 SPRED1 S100B RARRES1 PDGFRA
2 protein kinase activity GO:0004672 9.55 PDGFRA PBK NEK2 KIT BUB1B
3 kinase activity GO:0016301 9.1 PDGFRA PBK NEK2 KIT CDKN2A BUB1B
4 MDM2/MDM4 family protein binding GO:0097371 8.96 TP53 CDKN2A

Sources for Plexiform Neurofibroma

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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