MCID: PLX002
MIFTS: 40

Plexiform Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Plexiform Neurofibroma

MalaCards integrated aliases for Plexiform Neurofibroma:

Name: Plexiform Neurofibroma 12 29 6 15 73
Neurofibroma, Plexiform 44
Neurofibroma Plexiform 55

Classifications:



External Ids:

Disease Ontology 12 DOID:5151
MeSH 44 D018318
NCIt 50 C3797
SNOMED-CT 68 41252002
UMLS 73 C0206728

Summaries for Plexiform Neurofibroma

MalaCards based summary : Plexiform Neurofibroma, also known as neurofibroma, plexiform, is related to neurofibromatosis, type i and neurofibromatosis, type iv, of riccardi. An important gene associated with Plexiform Neurofibroma is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways is Cell cycle_Role of APC in cell cycle regulation. The drugs Celecoxib and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include bone, salivary gland and tongue, and related phenotype is respiratory system.

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 75)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type i 32.6 CDKN2B-AS1 NF1
2 neurofibromatosis, type iv, of riccardi 32.3 CDKN2B-AS1 NF1 NF2
3 neurofibroma 32.2 NF1 NF2
4 neurofibrosarcoma 30.7 NF1 NF2
5 malignant peripheral nerve sheath tumor 30.5 NF1 NF2
6 cellular schwannoma 30.1 NF1 NF2
7 neuroma 30.1 ANK3 NF2
8 chromosome 17q11.2 deletion syndrome 11.3
9 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 11.3
10 carpal tunnel syndrome 10.1
11 mononeuropathy of the median nerve, mild 10.1
12 scoliosis 10.1
13 impotence 10.1
14 ganglioneuroma 10.1
15 neurilemmoma 10.1 NF1 NF2
16 neurofibromatosis, familial spinal 10.1 NF1 NF2
17 plexiform schwannoma 10.1 NF1 NF2
18 immature cataract 10.1 NF1 NF2
19 atypical neurofibroma 10.1 NF1 NF2
20 trigeminal nerve neoplasm 10.1 NF1 NF2
21 neurilemmoma of the fifth cranial nerve 10.1 NF1 NF2
22 amyloid tumor 10.1 NF1 NF2
23 spinal meningioma 10.1 NF1 NF2
24 spinal canal and spinal cord meningioma 10.1 NF1 NF2
25 optic nerve neoplasm 10.1 NF1 NF2
26 acoustic neuroma 10.1 NF1 NF2
27 nervous system benign neoplasm 10.1 NF1 NF2
28 legius syndrome 10.1 NF1 SPRED1
29 neurofibromatosis, type ii 10.1 NF1 NF2
30 peripheral nervous system neoplasm 10.0 NF1 NF2
31 central nervous system cancer 10.0 NF1 NF2
32 hair whorl 10.0
33 macrodactyly 10.0
34 otitis media 10.0
35 pectus excavatum 10.0
36 myasthenia gravis 10.0
37 gastrointestinal stromal tumor 10.0
38 sacrococcygeal teratoma 10.0
39 angiosarcoma 10.0
40 oculocutaneous albinism 10.0
41 ptosis 10.0
42 congenital ptosis 10.0
43 amblyopia 10.0
44 portal hypertension 10.0
45 meningocele 10.0
46 arteriovenous malformation 10.0
47 myopia 10.0
48 tarsal tunnel syndrome 10.0
49 leiomyoma 10.0
50 obstructive jaundice 10.0

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



Diseases related to Plexiform Neurofibroma

Symptoms & Phenotypes for Plexiform Neurofibroma

MGI Mouse Phenotypes related to Plexiform Neurofibroma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 ANK3 BUB1B NF1 NF2 SPRED1

Drugs & Therapeutics for Plexiform Neurofibroma

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
2
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
3
Peginterferon alfa-2b Approved Phase 2,Phase 1 99210-65-8, 215647-85-1
4
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
5
Everolimus Approved Phase 2 159351-69-6 6442177
6
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
7
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
8
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
9
Vinblastine Approved Phase 2 865-21-4 241903 13342
10
leucovorin Approved Phase 2 58-05-9 6006 143
11
Pirfenidone Approved, Investigational Phase 2,Phase 1 53179-13-8 40632
12
Lenograstim Approved, Investigational Phase 2 135968-09-1
13
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
14
Ifosfamide Approved Phase 2 3778-73-2 3690
15
Etoposide Approved Phase 2 33419-42-0 36462
16
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
17
Trametinib Approved Phase 1, Phase 2 871700-17-3 11707110
18
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Serine Approved, Nutraceutical Phase 2 56-45-1 5951
21
tipifarnib Investigational Phase 2 192185-72-1 159324
22
Doxil Approved June 1999 Phase 2 31703
23
Maleic acid Experimental Phase 2 110-16-7 444266
24
Cediranib Investigational Phase 2 288383-20-0 9933475
25 Peripheral Nervous System Agents Phase 2,Phase 1
26 Antiviral Agents Phase 2,Phase 1
27 Alkylating Agents Phase 2
28 Cyclooxygenase 2 Inhibitors Phase 2
29 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
30 Antineoplastic Agents, Phytogenic Phase 2
31 Analgesics Phase 2,Phase 1
32 Anti-Infective Agents Phase 2,Phase 1
33 Interferon-alpha Phase 2,Phase 1
34 Anti-Inflammatory Agents Phase 2,Phase 1
35 Antimitotic Agents Phase 2
36 Cyclooxygenase Inhibitors Phase 2
37 Immunologic Factors Phase 2,Phase 1
38 Antineoplastic Agents, Alkylating Phase 2
39 Antirheumatic Agents Phase 2,Phase 1
40 Analgesics, Non-Narcotic Phase 2,Phase 1
41 interferons Phase 2,Phase 1
42 Immunosuppressive Agents Phase 2
43 Antibiotics, Antitubercular Phase 2
44 Anti-Bacterial Agents Phase 2
45 Antifungal Agents Phase 2
46 Pharmaceutical Solutions Phase 2,Phase 1
47 Folate Phase 2
48 Antimetabolites Phase 2
49 Dermatologic Agents Phase 2,Phase 1
50 Vitamin B9 Phase 2

Interventional clinical trials:

(show all 47)
# 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 Recruiting NCT02471339 Phase 3
2 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
3 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
4 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
5 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
6 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
7 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
8 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
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 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
11 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
12 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
13 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
14 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
15 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
16 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
17 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
18 Trametinib for Pediatric Neuro-oncology Patients With Refractory Tumor and Activation of the MAPK/ERK Pathway. Recruiting NCT03363217 Phase 1, Phase 2 Trametinib
19 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
20 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
21 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
22 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2 Selumetinib (AZD6244 hyd sulfate)
23 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Active, not recruiting NCT01362803 Phase 1, Phase 2 AZD6244
24 Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours Not yet recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
25 SARC031: MEK Inhibitor Selumetinib (AZD6244) in Combination With the mTOR Inhibitor Sirolimus for Patients With Malignant Peripheral Nerve Sheath Tumors Not yet recruiting NCT03433183 Phase 2 Selumetinib;Sirolimus
26 Efficacy and Safety of RAD001 in Treating Plexiform Neurofibromas (PN) Associated With Neurofibromatosis (NF1) Terminated NCT01365468 Phase 2 Everolimus (RAD001)
27 Study of Sutent®/Sunitinib (SU11248) in Subjects With NF-1 Plexiform Neurofibromas Terminated NCT01402817 Phase 2 Sutent®/Sunitinib
28 AZD2171 in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibroma and/or Neurofibroma Near the Spine Terminated NCT00326872 Phase 2 Cediranib Maleate
29 Sorafenib to Treat 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 Pirfenidone in Treating Young Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas Completed NCT00053937 Phase 1 pirfenidone
31 PEG-Interferon Alfa-2b in Treating Young Patients With Plexiform Neurofibroma Completed NCT00253474 Phase 1
32 A Study to Evaluate Bioavailability and Food Effect of Selumetinib (AZD6244) in Healthy Male Participants Completed NCT03649165 Phase 1 Treatment A;Treatment B;Treatment C;Treatment D;Acetaminophen
33 Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1 Recruiting NCT02211768 Phase 1 18FLT
34 Study to Investigate Safety, Pharmacokinetic (PK), Pharmacodynamic (PD) and Clinical Activity of Trametinib in Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Subjects With Cancers Harboring V600 Mutations Recruiting NCT02124772 Phase 1 Trametinib;Dabrafenib
35 Phase I Clinical Study of the Safety of Photodynamic Therapy (PDT) Using 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 Whole Body Magnetic Resonance Imaging With Diffusion Weighted Imaging : Potential Role in Neurofibromatosis Unknown status NCT01777451
38 Study of Plexiform Neurofibromas in Neurofibromatosis Type 1 Completed NCT00006435
39 Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01275586 Early Phase 1 Tasigna
40 Childhood Cancer and Plexiform Neurofibroma Tissue Microarray for Molecular Target Screening and Clinical Drug Development Completed NCT00340522
41 Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (PNs) Recruiting NCT02544022
42 Medication Adherence in Children, Adolescents and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Recruiting NCT03531814 Not Applicable
43 Natural History Study of Patients With Neurofibromatosis Type I Recruiting NCT00924196
44 Multi-Institutional Registry for Malignant Peripheral Nerve Sheath Tumors Recruiting NCT03141021
45 PET/MRI in CNS and Extra-CNS Tumors of Patients With Neurofibromatosis-1 (NF1) Active, not recruiting NCT01800032
46 An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1 Available NCT03259633 Selumetinib
47 Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma Terminated NCT00060008 Not Applicable

Search NIH Clinical Center for Plexiform Neurofibroma

Cochrane evidence based reviews: neurofibroma, plexiform

Genetic Tests for Plexiform Neurofibroma

Genetic tests related to Plexiform Neurofibroma:

# Genetic test Affiliating Genes
1 Plexiform Neurofibroma 29

Anatomical Context for Plexiform Neurofibroma

MalaCards organs/tissues related to Plexiform Neurofibroma:

41
Bone, Salivary Gland, Tongue, Skin, Liver, Eye, Spinal Cord

Publications for Plexiform Neurofibroma

Articles related to Plexiform Neurofibroma:

(show top 50) (show all 314)
# Title Authors Year
1
Nonoperative Management May Be a Viable Approach to Plexiform Neurofibroma of the Porta Hepatis in Patients with Neurofibromatosis-1. ( 29849532 )
2018
2
A combination of skeletal deformations of the dorsal mandible and temporomandibular region detected in orthopantomograms of patients with neurofibromatosis type 1 indicates an associated ipsilateral plexiform neurofibroma. ( 29764701 )
2018
3
Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome. ( 29970534 )
2018
4
Large Solitary Plexiform Neurofibroma of the Penis Without Erectile Dysfunction: a Case Report from Kerala. ( 29581693 )
2018
5
Development of 3D culture models of plexiform neurofibroma and initial application for phenotypic characterization and drug screening. ( 29055717 )
2018
6
Plexiform Neurofibroma of the Posterior Tibial Nerve Misdiagnosed as Proximal Tarsal Tunnel Syndrome: A Case Report. ( 29497706 )
2018
7
A brief report of plexiform neurofibroma. ( 29449010 )
2018
8
Association of Plexiform Neurofibroma Volume Changes and Development of Clinical Morbidities in Neurofibromatosis 1. ( 29718344 )
2018
9
Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5. ( 29441226 )
2018
10
Unusual Evolution of Plexiform Neurofibroma in the Scalp: A Case Report. ( 29651404 )
2018
11
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
12
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
13
Long-Term Results for a One-Stage Surgery Technique for Patients With Craniofacial Plexiform Neurofibroma. ( 29944556 )
2018
14
Large penile plexiform neurofibroma in an 11-year old boy. ( 29868161 )
2018
15
Mesenteric plexiform neurofibroma. ( 30233045 )
2018
16
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2018
17
Giant plexiform neurofibroma in neurofibromatosis type 1. ( 30246960 )
2018
18
Patient Reported Outcomes Measurement Information System and Quality of Life in Neurological Disorders Measurement System to Evaluate Quality of Life for Children and Adolescents with Neurofibromatosis Type 1 Associated Plexiform Neurofibroma. ( 30413310 )
2018
19
Plexiform neurofibroma as a cause of carpal tunnel syndrome in a radial deficiency patient. ( 28554231 )
2017
20
Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation. ( 28405554 )
2017
21
An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve. ( 28634493 )
2017
22
An unexpected manifestation of extensive plexiform neurofibroma. ( 28681789 )
2017
23
Multiple Plexiform Neurofibroma of the Hand Misdiagnosed as Ganglion Cyst. ( 28442864 )
2017
24
Plexiform Neurofibroma Overlying Giant CafAc-au-lait Macule. ( 28405569 )
2017
25
Solitary Plexiform Neurofibroma of the Hepatic Artery. ( 28948502 )
2017
26
Giant scalp plexiform neurofibroma associated with NF-1. ( 28928977 )
2017
27
Plexiform Neurofibroma Involving the Lacrimal Gland. ( 28203199 )
2017
28
Plexiform neurofibroma causing an ossifying subperiosteal haematoma: a rare case in the tibia of an 11-year-old girl. ( 28623408 )
2017
29
BCRP expression in schwannoma, plexiform neurofibroma and MPNST. ( 29179472 )
2017
30
Plexiform Neurofibroma of Clitoris. ( 29142769 )
2017
31
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. ( 28851321 )
2017
32
Giant congenital Becker's nevus overlying a plexiform neurofibroma: Merely a coincidence or more than it? ( 29210362 )
2017
33
Successful treatment by negative-pressure wound therapy for ulcer located on diffuse plexiform neurofibroma. ( 28734012 )
2017
34
Monitoring of plexiform neurofibroma in children and adolescents with neurofibromatosis type 1 by [(18) F]FDG-PET imaging. Is it of value in asymptomatic patients? ( 28771999 )
2017
35
Unusual location of a plexiform neurofibroma in the fallopian tube: A case report. ( 27641440 )
2016
36
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. ( 26840085 )
2016
37
Initial Exploration on Temporal Branch of Facial Nerve Function Preservation in Plexiform Neurofibroma Resection. ( 27526236 )
2016
38
Plexiform Neurofibroma: A Case Report. ( 26871793 )
2016
39
A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum. ( 27209645 )
2016
40
Isolated plexiform neurofibroma mimicking a vascular lesion. ( 27192529 )
2016
41
Plexiform neurofibroma. ( 27824540 )
2016
42
Multifactorial pathological hip subluxation in neurofibromatosis type-1 (NF1) due to intra-articular plexiform neurofibroma, lumbar radiculopathy and neurofibromatous polyneuropathy. ( 27932436 )
2016
43
Genetic basis of a solitary familial plexiform neurofibroma without verified associated neurofibromatosis. ( 27119482 )
2016
44
Sphenoid wing dysplasia and plexiform neurofibroma in neurofibromatosis type 1. ( 27061833 )
2016
45
Congenital extra calvarial plexiform neurofibroma in occipito-cervical region with Occipital bone defect with neurofibromatosis type 1 and segmental neurofibromatosis: Case report and review of literature. ( 28217149 )
2016
46
Misdiagnosis of plexiform neurofibroma as venous malformation in pediatric patients. ( 26868134 )
2016
47
Improvement of hyperpigmentation within a plexiform neurofibroma after treatment with Q-switched neodymium:yttrium-aluminium-garnet laser. ( 26880255 )
2016
48
Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia. ( 27857458 )
2016
49
Multivacuolated mucin-filled cells: a unique cell characteristic of plexiform neurofibroma. A report of 11 cases. ( 27816720 )
2016
50
Solitary Non Syndromic Oral Plexiform Neurofibroma: a Case Report and Review of Literature. ( 27840843 )
2016

Variations for Plexiform Neurofibroma

ClinVar genetic disease variations for Plexiform Neurofibroma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.5750-1G> A single nucleotide variant Likely pathogenic rs1057518974 GRCh38 Chromosome 17, 31334837: 31334837
2 NF1 NM_000267.3(NF1): c.5750-1G> A single nucleotide variant Likely pathogenic rs1057518974 GRCh37 Chromosome 17, 29661855: 29661855

Copy number variations for Plexiform Neurofibroma from CNVD:

7
# CNVD ID Chromosom 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

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

# Super pathways Score Top Affiliating Genes
1 10.36 BUB1B NEK2

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 cytosol GO:0005829 9.63 ANK3 BUB1B NEK2 NF1 NF2 SPRED1
2 chromosome, centromeric region GO:0000775 9.26 BUB1B NEK2
3 condensed chromosome kinetochore GO:0000777 8.96 BUB1B NEK2
4 cytoskeleton GO:0005856 8.92 ANK3 BUB1B NEK2 NF2

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

# Name GO ID Score Top Affiliating Genes
1 regulation of MAPK cascade GO:0043408 9.26 NF1 SPRED1
2 negative regulation of cell-matrix adhesion GO:0001953 9.16 NF1 NF2
3 negative regulation of protein kinase activity GO:0006469 9.13 NF1 NF2 SPRED1
4 negative regulation of MAPK cascade GO:0043409 8.8 NF1 NF2 SPRED1

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.62 ANK3 NF2

Sources for Plexiform Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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