MCID: PLX002
MIFTS: 44

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 43
Neurofibroma Plexiform 54

Classifications:



External Ids:

Disease Ontology 12 DOID:5151
MeSH 43 D018318
NCIt 49 C3797
SNOMED-CT 67 403818001 41252002
UMLS 71 C0206728

Summaries for Plexiform Neurofibroma

MalaCards based summary : Plexiform Neurofibroma, also known as neurofibroma, plexiform, is related to neurofibromatosis and neurofibromatosis, type i. An important gene associated with Plexiform Neurofibroma is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are MAPK signaling pathway and Glioma. The drugs Peginterferon alfa-2b and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone, 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 286)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 32.3 SPRED1 PDGFRA NF2 NF1
2 neurofibromatosis, type i 32.1 S100B PDGFRA NF2 NF1 KIT CDKN2B-AS1
3 rare tumor 31.1 NF2 KIT
4 atypical neurofibroma 30.7 SUZ12 NF1 CDKN2A
5 plexiform schwannoma 30.6 NF2 NF1 KIT
6 cellular schwannoma 30.4 NF2 NF1
7 lipomatosis, multiple 30.4 SPRED1 NF1 KIT
8 neurilemmoma 30.3 S100B PDGFRA NF2 NF1 KIT
9 optic nerve glioma 30.2 S100B NF2 NF1
10 mesenchymal cell neoplasm 30.1 TP53 PDGFRA KIT
11 neurilemmomatosis 30.1 SPRED1 NFIC NF2 NF1 CDKN2A
12 neuroma 30.1 S100B NF2 NF1 KIT ANK3
13 neurofibroma 30.0 TP53 S100B RARRES1 PDGFRA PBK NF2
14 glioma 29.9 TP53 PDGFRA NF1 CDKN2B-AS1 CDKN2A
15 spinal disease 29.9 TP53 PDGFRA NF1 CDKN2A
16 neurofibrosarcoma 29.7 TP53 NFIC NF2 NF1 CDKN2A
17 keratosis 29.6 TP53 KIT CDKN2A
18 neurofibromatosis, type ii 29.5 TP53 NF2 NF1
19 malignant peripheral nerve sheath tumor 29.3 TP53 S100B PDGFRA NF2 NF1 MMP13
20 gastrointestinal stromal tumor 29.0 TP53 S100B PDGFRA NF2 NF1 KIT
21 chromosome 17q11.2 deletion syndrome 11.5
22 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 11.5
23 epithelioid neurofibroma 10.6 NF2 NF1
24 peripheral nerve schwannoma 10.5 NF2 NF1
25 mechanical ectropion 10.5 NFIC NF1
26 optic nerve sheath meningioma 10.5 NF2 NF1
27 cellular neurofibroma 10.5 SUZ12 NF1
28 ptosis 10.5
29 exophthalmos 10.5
30 exanthem 10.4
31 optic nerve neoplasm 10.4 NFIC NF2 NF1
32 malignant peritoneal mesothelioma 10.4 NF2 CDKN2A
33 small intestinal sarcoma 10.4 PDGFRA KIT
34 overgrowth syndrome 10.4
35 deep leiomyoma 10.4 PDGFRA KIT
36 polyp of corpus uteri 10.4 NF2 NF1
37 skin granular cell tumor 10.3 SPRED1 NF1
38 gastric leiomyoma 10.3 PDGFRA KIT
39 pulmonary vein stenosis 10.3 PDGFRA KIT
40 suppression amblyopia 10.3
41 amblyopia 10.3
42 gastric leiomyosarcoma 10.3 PDGFRA KIT
43 colon leiomyosarcoma 10.3 PDGFRA KIT
44 orbital cancer 10.3 NF2 NF1
45 costello syndrome 10.3 SPRED1 PDGFRA NF1
46 chondroma 10.3 PDGFRA NF1 KIT
47 paraganglioma and gastric stromal sarcoma 10.3 PDGFRA NF1 KIT
48 hypereosinophilic syndrome, idiopathic 10.3 PDGFRA KIT
49 cafe-au-lait spots, multiple 10.3
50 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 9.99 NF2
2 Decreased viability GR00173-A 9.99 PDGFRA
3 Decreased viability GR00221-A-1 9.99 BUB1B CDKN2A PDGFRA KIT MAP2K7 NF1
4 Decreased viability GR00221-A-2 9.99 BUB1B NF1 SUZ12
5 Decreased viability GR00221-A-3 9.99 BUB1B CDKN2A DHH NF2 PBK PDGFRA
6 Decreased viability GR00221-A-4 9.99 CDKN2A PBK PDGFRA NF1
7 Decreased viability GR00249-S 9.99 NF2 PDGFRA MAP2K7 NF1 SUZ12
8 Decreased viability GR00301-A 9.99 BUB1B KIT
9 Decreased viability GR00342-S-1 9.99 PBK
10 Decreased viability GR00386-A-1 9.99 NF1 SUZ12
11 Decreased viability GR00402-S-2 9.99 PDGFRA MAP2K7
12 Decreased substrate adherent cell growth GR00193-A-1 9.61 BUB1B KIT NEK2
13 Decreased substrate adherent cell growth GR00193-A-2 9.61 BUB1B KIT MAP2K7 NEK2
14 Decreased substrate adherent cell growth GR00193-A-3 9.61 MAP2K7
15 Decreased substrate adherent cell growth GR00193-A-4 9.61 KIT

MGI Mouse Phenotypes related to Plexiform Neurofibroma:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 ANK3 BUB1B CDKN2A EGR2 KIT MAP2K7
2 growth/size/body region MP:0005378 10.26 BUB1B CDKN2A EGR2 KIT MMP13 NF1
3 integument MP:0010771 10.21 BUB1B CDKN2A EGR2 KIT MAP2K7 MMP13
4 immune system MP:0005387 10.2 BUB1B CDKN2A KIT NEK2 NF1 NF2
5 embryo MP:0005380 10.15 BUB1B CDKN2A EGR2 KIT NF1 NF2
6 nervous system MP:0003631 10.13 ANK3 CDKN2A DHH EGR2 KIT MAP2K7
7 craniofacial MP:0005382 10.11 EGR2 KIT NF1 NF2 NFIC PDGFRA
8 neoplasm MP:0002006 10.02 BUB1B CDKN2A KIT MAP2K7 NF1 NF2
9 limbs/digits/tail MP:0005371 9.95 EGR2 KIT MMP13 NF1 PDGFRA SPRED1
10 reproductive system MP:0005389 9.9 BUB1B CDKN2A DHH EGR2 KIT MAP2K7
11 pigmentation MP:0001186 9.73 CDKN2A KIT NF1 PDGFRA SUZ12 TP53
12 respiratory system MP:0005388 9.65 ANK3 BUB1B CDKN2A EGR2 KIT NF1
13 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 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
2
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
3
leucovorin Approved Phase 2 58-05-9 6006 143
4
Vinblastine Approved Phase 2 865-21-4 241903 13342
5
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
6
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
7
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
9
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
10
Lenograstim Approved, Investigational Phase 2 135968-09-1
11
Ifosfamide Approved Phase 2 3778-73-2 3690
12
Etoposide Approved Phase 2 33419-42-0 36462
13
Trametinib Approved Phase 1, Phase 2 871700-17-3 11707110
14
Dabrafenib Approved, Investigational Phase 1, Phase 2 1195765-45-7 44462760 44516822
15
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
16
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
18
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
19
tipifarnib Investigational Phase 2 192185-72-1 159324
20
Cediranib Investigational Phase 2 288383-20-0 9933475
21
Maleic acid Experimental, Investigational Phase 2 110-17-8, 110-16-7 444972
22 Anti-Infective Agents Phase 2
23 Antiviral Agents Phase 2
24 Vitamin B Complex Phase 2
25 Folic Acid Antagonists Phase 2
26 Folate Phase 2
27 Tubulin Modulators Phase 2
28 Antirheumatic Agents Phase 2
29 Antimetabolites Phase 2
30 Antimitotic Agents Phase 2
31 Vitamin B9 Phase 2
32 Analgesics Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Anti-Inflammatory Agents, Non-Steroidal Phase 2
36 Anti-Bacterial Agents Phase 2
37 Antifungal Agents Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Etoposide phosphate Phase 2
40
Liposomal doxorubicin Phase 2 31703
41 Alkylating Agents Phase 2
42
Isophosphamide mustard Phase 2 0
43 Mitogens Phase 1, Phase 2
44 Pharmaceutical Solutions Phase 1, Phase 2
45 Immunosuppressive Agents Phase 2
46 Immunologic Factors Phase 2
47 Protein Kinase Inhibitors Phase 2
48 Imatinib Mesylate Phase 2 220127-57-1 123596
49 Angiogenesis Inhibitors Phase 2
50
Peginterferon alfa-2a Approved, Investigational Phase 1 198153-51-4 5360545

Interventional clinical trials:

(show all 45)
# 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 Active, not recruiting NCT02471339 Phase 3
2 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
3 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
4 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
5 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
6 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
7 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
8 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
9 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
10 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
11 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
12 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 PD-0325901 oral capsule
13 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
14 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
15 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
16 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
17 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib
18 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
19 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
20 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
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 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
23 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)
24 Phase II Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Terminated NCT02177825 Phase 2 Imatinib Mesylate
25 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
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 I Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00253474 Phase 1
28 Phase I Trial Of Pirfenidone In Children With Neurofibromatosis Type 1 And Plexiform Neurofibromas Completed NCT00053937 Phase 1 pirfenidone
29 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
30 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
31 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
32 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
33 Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach. Unknown status NCT02777775
34 Analysis of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 Patients Unknown status NCT01218139
35 An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1 With Inoperable, Progressive/Symptomatic Plexiform Neurofibromas (PN) Approved for marketing NCT03259633 Selumetinib
36 Childhood Cancer and Plexiform Neurofibroma Tissue Microarray for Molecular Target Screening and Clinical Drug Development Completed NCT00340522
37 Pilot Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01275586 Early Phase 1 Tasigna
38 Natural History of Plexiform in Neurofibromatosis Type I Completed NCT00006435
39 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Recruiting NCT00924196
40 Pilot Study of Medication Adherence in Children, Adolescents, and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Recruiting NCT03531814
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 [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
43 Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden Enrolling by invitation NCT03820778
44 Clinical Sequencing of Cancer and Tissue Repository: ClinOmics Not yet recruiting NCT03027401
45 Novel Imaging Modalities For Plexiform Neurofibromas Terminated NCT00060008

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
Bone, Salivary Gland, Skin, Tongue, Brain, Liver, Prostate

Publications for Plexiform Neurofibroma

Articles related to Plexiform Neurofibroma:

(show top 50) (show all 715)
# 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. 54 61
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. 61 54
16536802 2006
4
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. 54 61
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
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
8
Intraparotid facial nerve plexiform neurofibroma in a child (case report). 61
32435474 2020
9
Genetic analyses of mosaic neurofibromatosis type 1 with giant café-au-lait macule, plexiform neurofibroma and multiple melanocytic nevi. 61
32246533 2020
10
Early Diagnosis and Intervention for Airway-Obstructing Neonatal Plexiform Neurofirbomatosis. 61
32541267 2020
11
Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg. 61
32487640 2020
12
Translating current basic research into future therapies for neurofibromatosis type 1. 61
32439933 2020
13
Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review. 61
31350851 2020
14
Genetic disruption of the small GTPase RAC1 prevents plexiform neurofibroma formation in mice with neurofibromatosis type 1. 61
32471868 2020
15
Surgery combined with embolization in the treatment of plexiform neurofibroma: Case report and literature review. 61
32382647 2020
16
Orbital malformation with dysplastic infraorbital artery in neurofibromatosis type 1. 61
32370622 2020
17
Cardiac overload resolved by resection of a large plexiform neurofibroma on both the buttocks and upper posterior thighs in a patient with neurofibromatosis type I: a case report. 61
32423401 2020
18
A Novel Treatment Modality for Malignant Peripheral Nerve Sheath Tumor Using a Dual-Effect Liposome to Combine Photodynamic Therapy and Chemotherapy. 61
32252313 2020
19
Dramatic Improvement of a Massive Plexiform Neurofibroma After Administration of Selumetinib. 61
31917098 2020
20
[Management of cervico-cephalic plexiform neurofibromas: About 35 cases]. 61
32295731 2020
21
Deregulated microRNAs in neurofibromatosis type 1 derived malignant peripheral nerve sheath tumors. 61
32076030 2020
22
Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1. 61
31849109 2020
23
Response to Everolimus of a Progressive Plexiform Neurofibroma in NF type 1. 61
32027426 2020
24
Lumbosacral plexiform neurofibroma: a rare case in an adult without neurofibromatosis type I. 61
31342092 2020
25
Supernumerary teeth of permanent dentition in patients with neurofibromatosis type 1. 61
31882234 2020
26
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation. 61
31664505 2020
27
[A Case of Neurofibromatosis Type 1 Presenting Voiding Symptoms Caused by Giant Bladder Diverticulum]. 61
31933336 2019
28
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01. 61
31881853 2019
29
Plexiform Neurofibroma of the Uterus: A Case Report. 61
31688245 2019
30
Ossifying Fibroma of Maxilla in a Female Affected by Neurofibromatosis Type 1. 61
31763299 2019
31
Subperiosteal hemorrhage: A rare complication in neurofibromatosis which may mimic malignant peripheral nerve sheath tumor. 61
31695827 2019
32
Genital Neurofibromatosis Presenting as Painful Clitoromegaly. 61
31352017 2019
33
Von Recklinghausen's Disease Presenting as Otolaryngologic Emergency: A Rare Occurrence. 61
31741938 2019
34
Trametinib Induces Neurofibroma Shrinkage and Enables Surgery. 61
31141829 2019
35
Non-epithelial tumors of the larynx: case series of 12 years. 61
31256243 2019
36
Malignant Peripheral Nerve Sheath Tumor Arising Within Lumbar Spinal Plexiform Neurofibroma. 61
31323411 2019
37
Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1. 61
31533651 2019
38
Simultaneous Forehead Lift and Blepharoplasty Techniques in Management of Orbito-Temporal Plexiform Neurofibroma. 61
30889063 2019
39
Unequaled overgrowth inside and out-an exceptional example of hypertrichosis overlying plexiform neurofibroma. 61
31388536 2019
40
Palisaded Encapsulated (Solitary Circumscribed) Neuroma: A Review of 30 Cases. 61
30834800 2019
41
Giant plexiform neurofibroma of thigh in a young woman. 61
31129622 2019
42
[Rare form of a segmental neurofibromatosis with giant plexiform neurofibroma]. 61
31076816 2019
43
Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. 61
31091306 2019
44
Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele. 61
30868483 2019
45
Plexiform neurofibroma as a cause of carpal tunnel syndrome in a radial deficiency patient. 61
28554231 2019
46
Ischiorectal fossa: benign and malignant neoplasms of this "ignored" radiological anatomical space. 61
30955068 2019
47
Vitamin D receptor expression and serum 25(OH)D concentration inversely associates with burden of neurofibromas. 61
30299316 2019
48
Calebin-A induced death of malignant peripheral nerve sheath tumor cells by activation of histone acetyltransferase. 61
30831486 2019
49
STAT3 inhibition reduces macrophage number and tumor growth in neurofibroma. 61
30542122 2019
50
Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1. 61
31110582 2019

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>ASNV 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 CENTA2 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 C17orf79 Plexiform neurofibroma

Expression for Plexiform Neurofibroma

Search GEO for disease gene expression data for Plexiform Neurofibroma.

Pathways for Plexiform Neurofibroma

GO Terms for Plexiform Neurofibroma

Cellular components related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.47 TP53 SUZ12 SPRED1 S100B PDGFRA PBK

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 TP53 KIT CDKN2B-AS1 CDKN2A ANK3
2 negative regulation of cell proliferation GO:0008285 9.85 TP53 RARRES1 NF2 NF1 CDKN2A
3 protein phosphorylation GO:0006468 9.85 PDGFRA PBK NEK2 MAP2K7 KIT BUB1B
4 regulation of cell proliferation GO:0042127 9.78 TP53 NF2 NF1 KIT
5 MAPK cascade GO:0000165 9.72 SPRED1 PDGFRA PBK NF1 KIT
6 hematopoietic progenitor cell differentiation GO:0002244 9.69 TP53 PDGFRA KIT
7 Ras protein signal transduction GO:0007265 9.67 TP53 NF1 CDKN2A
8 odontogenesis of dentin-containing tooth GO:0042475 9.58 PDGFRA NFIC NF2
9 replicative senescence GO:0090399 9.57 TP53 CDKN2A
10 positive regulation of phospholipase C activity GO:0010863 9.56 PDGFRA KIT
11 Leydig cell differentiation GO:0033327 9.55 PDGFRA DHH
12 somatic stem cell division GO:0048103 9.52 KIT CDKN2A
13 phosphorylation GO:0016310 9.5 PDGFRA PBK NEK2 MAP2K7 KIT CDKN2A
14 negative regulation of neuroblast proliferation GO:0007406 9.43 TP53 NF1
15 negative regulation of MAPK cascade GO:0043409 9.43 SPRED1 NF2 NF1
16 negative regulation of cell-matrix adhesion GO:0001953 9.33 NF2 NF1 CDKN2A
17 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 kinase activity GO:0004672 9.43 PDGFRA PBK NEK2 MAP2K7 KIT BUB1B
2 protein phosphatase binding GO:0019903 9.33 TP53 NEK2 MAP2K7
3 kinase activity GO:0016301 9.17 PDGFRA PBK NEK2 MAP2K7 KIT CDKN2A

Sources for Plexiform Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....