MCID: NRF007
MIFTS: 64

Neurofibroma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurofibroma

MalaCards integrated aliases for Neurofibroma:

Name: Neurofibroma 12 74 52 58 54 6 43 15 17 71
Neurofibromas 29 6 15
Nerve Sheath Tumors 71
Neurofibromatoses 71

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:962
MeSH 43 D009455
NCIt 49 C3272
SNOMED-CT 67 89084002
UMLS via Orphanet 72 C0027830
Orphanet 58 ORPHA252183
UMLS 71 C0027830 C0162678 C0206727

Summaries for Neurofibroma

NIH Rare Diseases : 52 A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.

MalaCards based summary : Neurofibroma, also known as neurofibromas, is related to epithelioid neurofibroma and cellular neurofibroma, and has symptoms including seizures, tremor and back pain. An important gene associated with Neurofibroma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are periarticular subcutaneous nodules and plexiform neurofibroma

Wikipedia : 74 A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system. In 90% of cases, they... more...

Related Diseases for Neurofibroma

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

(show top 50) (show all 813)
# Related Disease Score Top Affiliating Genes
1 epithelioid neurofibroma 34.3 NF2 NF1 CD34
2 cellular neurofibroma 34.1 SOX10 NF1
3 atypical neurofibroma 33.9 SOX10 NF1 CDKN2A CD34
4 plexiform neurofibroma 33.5 TP53 PDGFRA NF2 NF1 KIT CDKN2A
5 pacinian tumor 33.3 NF1 CD34
6 neurofibromatosis, type i 33.2 PDGFRA NF1 KIT
7 bladder benign neoplasm 32.4 NF1 KIT CDKN2A
8 intraneural perineurioma 32.2 S100B S100A1 NF2 MUC1
9 neurofibromatosis, type iv, of riccardi 31.6 TP53 PTEN PDGFRA NF2 NF1 KIT
10 exophthalmos 31.5 SYP NF1 CD34
11 neurilemmomatosis 31.3 NF2 NF1 CDKN2A
12 meningioma, radiation-induced 31.2 S100B NF2 MUC1
13 ganglioneuroma 31.1 SYP S100B PTEN
14 neuroma 31.0 S100B NF2 NF1 MUC1 CD34
15 dowling-degos disease 1 30.8 MITF KITLG KIT
16 fibroma 30.8 S100A1 F13A1 CD34
17 melanoma in congenital melanocytic nevus 30.7 S100B MLANA
18 lipomatosis, multiple 30.6 PTEN NF1 MLANA KIT CD34
19 localized hypertrophic neuropathy 30.6 S100B MUC1
20 vitiligo-associated multiple autoimmune disease susceptibility 1 30.5 MLANA MITF KITLG
21 pheochromocytoma 30.5 SYP NF1 MITF KIT CDKN2A
22 ganglioneuroblastoma 30.4 TP53 SYP S100B
23 cholecystitis 30.4 TP53 MUC1 EGFR CDKN2A
24 angiolipoma 30.4 MLANA F13A1 CD34
25 fibrous meningioma 30.3 S100B NF2 MUC1 F13A1 CD34
26 ganglioglioma 30.3 TP53 SYP S100B NF1
27 fibrous histiocytoma 30.3 S100B MITF F13A1 CD34
28 optic nerve glioma 30.3 S100B NF2 NF1 MUC1
29 neurofibrosarcoma 30.3 TP53 S100A1 NF2 NF1 KIT CD34
30 myxopapillary ependymoma 30.3 SYP S100B NF2 MUC1
31 granular cell tumor 30.3 SYP S100B S100A1 MLANA
32 tubular adenocarcinoma 30.3 SYP MUC1 EGFR
33 pleural cancer 30.2 TP53 NF2 EGFR CDKN2A
34 hemangioma 30.2 TP53 SYP PTEN MUC1 KIT CD34
35 myoma 30.2 KITLG KIT EGFR CD34
36 mature teratoma 30.2 TP53 SYP KIT
37 teratoma 30.2 TP53 SYP PTEN KIT CDKN2A
38 glioma 30.1 TP53 PTEN PDGFRA NF1 EGFR CDKN2A
39 liposarcoma 30.1 TP53 PTEN PDGFRA CDKN2A CD34
40 transitional cell carcinoma 30.1 TP53 PTEN EGFR CDKN2A
41 leiomyoma 30.1 S100A1 PDGFRA KIT CD34
42 retinitis pigmentosa 11 30.1 TP53 PTEN EGFR CDKN2A
43 malignant peripheral nerve sheath tumor 30.1 TP53 SOX10 S100B S100A1 PDGFRA NF2
44 spindle cell rhabdomyosarcoma 30.1 S100B S100A1 MUC1
45 malignant glioma 30.1 TP53 PTEN EGFR CDKN2A
46 intrahepatic cholangiocarcinoma 30.1 TP53 PTEN MUC1 EGFR
47 cholangiocarcinoma 30.1 TP53 PTEN MUC1 EGFR
48 perineurioma 30.0 S100B S100A1 PDGFRA MUC1 KIT
49 pleomorphic adenoma 30.0 TP53 S100B S100A1 MUC1 CDKN2A
50 skin carcinoma 30.0 TP53 MLANA EGFR CDKN2A

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to Neurofibroma

Symptoms & Phenotypes for Neurofibroma

Human phenotypes related to Neurofibroma:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periarticular subcutaneous nodules 58 31 frequent (33%) Frequent (79-30%) HP:0007470
2 plexiform neurofibroma 58 31 frequent (33%) Frequent (79-30%) HP:0009732
3 enlarged peripheral nerve 58 31 frequent (33%) Frequent (79-30%) HP:0012645
4 subcutaneous neurofibromas 58 31 frequent (33%) Frequent (79-30%) HP:0100698
5 abnormal cranial nerve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001291
6 spinal canal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003416
7 peripheral nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0003406
8 paraspinal neurofibromas 58 31 occasional (7.5%) Occasional (29-5%) HP:0006751
9 symmetric spinal nerve root neurofibromas 58 31 occasional (7.5%) Occasional (29-5%) HP:0006851
10 macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000256
11 recurrent otitis media 58 31 very rare (1%) Very rare (<4-1%) HP:0000403
12 kyphoscoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002751
13 neoplasm of the breast 58 31 very rare (1%) Very rare (<4-1%) HP:0100013
14 intestinal bleeding 58 31 very rare (1%) Very rare (<4-1%) HP:0002584
15 enlargement of parotid gland 58 31 very rare (1%) Very rare (<4-1%) HP:0011801
16 abnormal biliary tract morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0012440
17 spinal meningioma 58 31 very rare (1%) Very rare (<4-1%) HP:0100010
18 multiple intestinal neurofibromatosis 58 31 very rare (1%) Very rare (<4-1%) HP:0005220
19 peripheral schwannoma 58 31 very rare (1%) Very rare (<4-1%) HP:0009593
20 atypical neurofibromatosis 58 31 very rare (1%) Very rare (<4-1%) HP:0007524
21 palmar neurofibromas 58 31 very rare (1%) Very rare (<4-1%) HP:0007576
22 facial neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0012289
23 neoplasia of the pleura 58 31 very rare (1%) Very rare (<4-1%) HP:0100527
24 neoplasm of the trachea 58 31 very rare (1%) Very rare (<4-1%) HP:0100551
25 melanocytic nevus 58 Excluded (0%)
26 spinal neurofibromas 58 Occasional (29-5%)
27 neurofibromas 58 Obligate (100%)
28 skin tags 58 Excluded (0%)

UMLS symptoms related to Neurofibroma:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.62 EGFR
2 Decreased viability GR00173-A 9.62 PDGFRA
3 Decreased viability GR00221-A-1 9.62 CDKN2A EGFR KIT NF1 PDGFRA
4 Decreased viability GR00221-A-2 9.62 NF1
5 Decreased viability GR00221-A-3 9.62 CDKN2A PDGFRA
6 Decreased viability GR00221-A-4 9.62 CDKN2A EGFR NF1 PDGFRA
7 Decreased viability GR00301-A 9.62 KIT
8 Decreased viability GR00402-S-2 9.62 CDKN2A EGFR KIT NF1 PDGFRA
9 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 PTEN

MGI Mouse Phenotypes related to Neurofibroma:

45 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.49 CD34 CDKN2A CNP EGFR F13A1 KIT
2 behavior/neurological MP:0005386 10.47 CDKN2A CNP KIT MAG MITF NF1
3 cellular MP:0005384 10.43 CD34 CDKN2A CNP EGFR KIT KITLG
4 endocrine/exocrine gland MP:0005379 10.4 CDKN2A CNP EGFR F13A1 KIT KITLG
5 hematopoietic system MP:0005397 10.38 CD34 CDKN2A CNP EGFR F13A1 KIT
6 integument MP:0010771 10.38 CD34 CDKN2A EGFR KIT KITLG MITF
7 growth/size/body region MP:0005378 10.36 CDKN2A CNP EGFR KIT KITLG MITF
8 immune system MP:0005387 10.36 CD34 CDKN2A CNP EGFR KIT KITLG
9 embryo MP:0005380 10.34 CDKN2A EGFR KIT KITLG MITF NF1
10 cardiovascular system MP:0005385 10.32 CDKN2A EGFR F13A1 KIT KITLG NF1
11 digestive/alimentary MP:0005381 10.3 CDKN2A CNP EGFR KIT KITLG NF1
12 nervous system MP:0003631 10.3 CDKN2A CNP EGFR KIT KITLG MAG
13 neoplasm MP:0002006 10.22 CD34 CDKN2A EGFR KIT KITLG NF1
14 craniofacial MP:0005382 10.21 EGFR KIT KITLG MITF NF1 NF2
15 limbs/digits/tail MP:0005371 10.18 EGFR KIT KITLG MITF NF1 PDGFRA
16 liver/biliary system MP:0005370 10.16 CDKN2A EGFR KIT KITLG MITF NF1
17 muscle MP:0005369 10.15 CDKN2A CNP EGFR KIT NF1 PDGFRA
18 normal MP:0002873 10.14 EGFR KIT MITF NF1 PDGFRA PTEN
19 hearing/vestibular/ear MP:0005377 10.12 EGFR KIT KITLG MITF NF1 NF2
20 pigmentation MP:0001186 10.11 CDKN2A EGFR KIT KITLG MITF MLANA
21 no phenotypic analysis MP:0003012 10.03 CDKN2A EGFR KIT MITF MLANA PDGFRA
22 reproductive system MP:0005389 10.03 CDKN2A CNP EGFR F13A1 KIT KITLG
23 respiratory system MP:0005388 9.93 CDKN2A CNP EGFR F13A1 KIT NF1
24 renal/urinary system MP:0005367 9.92 EGFR KIT MITF NF1 NF2 PDGFRA
25 skeleton MP:0005390 9.7 CDKN2A CNP EGFR KIT KITLG MITF
26 vision/eye MP:0005391 9.32 CDKN2A CNP EGFR KIT KITLG MITF

Drugs & Therapeutics for Neurofibroma

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

(show top 50) (show all 172)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Trametinib Approved Phase 4 871700-17-3 11707110
7
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
8 Dopamine Uptake Inhibitors Phase 4
9 Dopamine Agents Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Analgesics Phase 4
12 Neurotransmitter Agents Phase 4
13 Central Nervous System Depressants Phase 4
14 Adrenergic Agonists Phase 4
15 Hypnotics and Sedatives Phase 4
16 Adrenergic alpha-2 Receptor Agonists Phase 4
17 Anesthetics Phase 4
18 Anesthetics, General Phase 4
19 Anesthetics, Intravenous Phase 4
20
Glycopyrrolate Phase 4 596-51-0 3494
21 Adrenergic Agents Phase 4
22
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
23
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
24
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
25
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
26 Antimitotic Agents Phase 3
27 Antipsychotic Agents Phase 2, Phase 3
28 Tranquilizing Agents Phase 2, Phase 3
29 Chlorhexidine gluconate Phase 2, Phase 3
30 Psychotropic Drugs Phase 2, Phase 3
31 Anticonvulsants Phase 2, Phase 3
32 Calcium, Dietary Phase 2, Phase 3
33 calcium channel blockers Phase 2, Phase 3
34 Sodium Channel Blockers Phase 2, Phase 3
35 Diuretics, Potassium Sparing Phase 2, Phase 3
36 Hormones Phase 2, Phase 3
37 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
38
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
39
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
40
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
41
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
42
leucovorin Approved Phase 2 58-05-9 6006 143
43
Vinblastine Approved Phase 2 865-21-4 13342 241903
44
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
45
Etoposide Approved Phase 2 33419-42-0 36462
46
Ifosfamide Approved Phase 2 3778-73-2 3690
47
Lenograstim Approved, Investigational Phase 2 135968-09-1
48
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
49
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
50
Diclofenac Approved, Vet_approved Phase 2 15307-86-5 3033

Interventional clinical trials:

(show top 50) (show all 180)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
4 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Recruiting NCT02471339 Phase 3
6 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
7 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
8 An Open-label Multicenter Phase II Study of Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
9 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
10 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
11 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
12 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
13 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
14 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
15 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
16 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
17 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
18 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
19 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
20 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
21 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
22 Phase 2 Study of the mTOR Inhibitor Everolimus in Combination With Bevacizumab in Patients With Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
23 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
24 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
25 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
26 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
27 A Phase I/II Trial of Ganetespib in Combination With the mTOR Inhibitor Sirolimus for Patients With Recurrent or Refractory Sarcomas Including Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
28 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
29 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
30 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
31 U.S./Canada Sarcoma Intergroup Study of OSI-774 in Malignant Peripheral Nerve Sheath Tumors, Phase II Completed NCT00068367 Phase 2 erlotinib hydrochloride
32 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
33 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
34 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
35 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
36 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
37 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
38 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
39 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
40 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
41 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
42 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
43 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
44 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 Recruiting NCT02124772 Phase 1, Phase 2 Trametinib;Dabrafenib
45 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Recruiting NCT03231306 Phase 2 Binimetinib
46 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
47 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
48 A Phase II Basket Trial of Glutaminase Inhibitor (BeGIN) CB-839 HCl in Patients With NF1 Aberrations, NF1 Mutant Malignant Peripheral Nerve Sheath Tumors (MPNST), KEAP1/NRF2 and LKB1 Aberrant Tumors Recruiting NCT03872427 Phase 2 Glutaminase Inhibitor CB-839 Hydrochloride
49 Phase I Study Evaluating Combination Therapy With the Receptor Tyrosine Kinase Inhibitor PLX3397 and Sirolimus in Patients With Unresectable Sarcoma and Phase II Study in Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02584647 Phase 1, Phase 2 PLX3397;Sirolimus
50 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib

Search NIH Clinical Center for Neurofibroma

Cochrane evidence based reviews: neurofibroma

Genetic Tests for Neurofibroma

Genetic tests related to Neurofibroma:

# Genetic test Affiliating Genes
1 Neurofibromas 29

Anatomical Context for Neurofibroma

MalaCards organs/tissues related to Neurofibroma:

40
Skin, Breast, Bone, Spinal Cord, Tongue, Lung, Thyroid

Publications for Neurofibroma

Articles related to Neurofibroma:

(show top 50) (show all 5558)
# Title Authors PMID Year
1
Malignant peripheral nerve sheath tumor of intracranial nerve: a case series review. 54 61
20399579 2010
2
Gastrointestinal stromal tumor and other primary metachronous or synchronous neoplasms as a suspicion criterion for syndromic setting. 54 61
20043105 2010
3
Primary localised pleural neurofibroma: expanding the spectrum of spindle cell tumours of the pleura. 54 61
20154031 2010
4
Solitary submucous neurofibroma of the mandible: review of the literature and report of a rare case. 54 61
19912641 2009
5
Mucosal Schwann cell "hamartoma": clinicopathologic study of 26 neural colorectal polyps distinct from neurofibromas and mucosal neuromas. 54 61
19065103 2009
6
Actin expression in neural crest cell-derived tumors including schwannomas, malignant peripheral nerve sheath tumors, neurofibromas and melanocytic tumors. 54 61
19154261 2009
7
A gastrointestinal stromal tumor of the stomach morphologically resembling a neurofibroma: demonstration of a novel platelet-derived growth factor receptor alpha exon 18 mutation. 54 61
18657298 2008
8
Nf1 mutation expands an EGFR-dependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential. 54 61
19041782 2008
9
Sox10: a pan-schwannian and melanocytic marker. 54 61
18636017 2008
10
Diagnostic implications of podoplanin expression in peripheral nerve sheath neoplasms. 54 61
18480004 2008
11
The role of steroid hormones in the NF1 phenotype: focus on pregnancy. 54 61
18481270 2008
12
Influence of hormones and hormone metabolites on the growth of Schwann cells derived from embryonic stem cells and on tumor cell lines expressing variable levels of neurofibromin. 54 61
18213578 2008
13
Apolipoprotein D in CD34-positive and CD34-negative cutaneous neoplasms: a useful marker in differentiating superficial acral fibromyxoma from dermatofibrosarcoma protuberans. 54 61
17885669 2008
14
Colocalized cellular schwannoma and plexiform neurofibroma in the absence of neurofibromatosis. Case report. 54 61
17695403 2007
15
MMP-13 and p53 in the progression of malignant peripheral nerve sheath tumors. 54 61
17786186 2007
16
Imatinib mesylate inhibits cell invasion of malignant peripheral nerve sheath tumor induced by platelet-derived growth factor-BB. 54 61
17558420 2007
17
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. 54 61
17668375 2007
18
Role of maxillofacial surgery in patients with neurofibromatosis type I. 54 61
17538307 2007
19
Neurofibromin-deficient Schwann cells have increased lysophosphatidic acid dependent survival and migration-implications for increased neurofibroma formation during pregnancy. 54 61
17236191 2007
20
Fibrous histiocytoma of the lacrimal gland. 54 61
17413632 2007
21
Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. 54 61
17215387 2007
22
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 54 61
17087943 2006
23
[Bladder neurofibroma: case report and bibliographic review]. 54 61
17190213 2006
24
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 54 61
16835897 2006
25
Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. 54 61
16648142 2006
26
Perinatal epidermal growth factor receptor blockade prevents peripheral nerve disruption in a mouse model reminiscent of benign world health organization grade I neurofibroma. 54 61
16651634 2006
27
Mutation and expression of PDGFRA and KIT in malignant peripheral nerve sheath tumors, and its implications for imatinib sensitivity. 54 61
16357008 2006
28
cDNA microarray analysis of cancer associated gene expression profiles in malignant peripheral nerve sheath tumours. 54 61
16443732 2006
29
Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibroma. 54 61
15986446 2005
30
Solitary subglottic neurofibroma: a report of an unusual manifestation. 54 61
15947937 2005
31
Apolipoprotein D is down-regulated during malignant transformation of neurofibromas. 54 61
16153462 2005
32
Pigmented neurofibroma: review of Japanese patients with an analysis of melanogenesis demonstrating coexpression of c-met protooncogene and microphthalmia-associated transcription factor. 54 61
16112003 2005
33
Temporally regulated neural crest transcription factors distinguish neuroectodermal tumors of varying malignancy and differentiation. 54 61
16036108 2005
34
[Neurofibromatosis type 1 or Von Recklinghausen's disease]. 54 61
15777582 2005
35
Immunohistochemical staining for calretinin is useful for differentiating schwannomas from neurofibromas. 54 61
15487453 2004
36
Apo D in soft tissue tumors: a novel marker for dermatofibrosarcoma protuberans. 54 61
15252314 2004
37
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. 54 61
14673600 2004
38
Topoisomerase-II alpha is upregulated in malignant peripheral nerve sheath tumors and associated with clinical outcome. 54 61
14673046 2003
39
Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. 54 61
14692188 2003
40
Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. 54 61
13679444 2003
41
Aberrant CpG island methylation in neurofibromas and neurofibrosarcomas. 54 61
12883734 2003
42
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. 54 61
12696059 2003
43
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 54 61
12746402 2003
44
Immunohistochemical demonstration of EMA/Glut1-positive perineurial cells and CD34-positive fibroblastic cells in peripheral nerve sheath tumors. 54 61
12692193 2003
45
Gastrointestinal stromal tumors: radiologic features with pathologic correlation. 54 61
12640147 2003
46
Aberrant G protein signaling in nervous system tumors. 54 61
12296648 2002
47
Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms. 54 61
12152785 2002
48
Neurofibromatosis 1. 54 61
12432832 2002
49
Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. 54 61
12237234 2002
50
Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. 54 61
11904334 2002

Variations for Neurofibroma

ClinVar genetic disease variations for Neurofibroma:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter)SNV Pathogenic 230467 rs866445127 17:29679366-29679366 17:31352348-31352348
2 NF1 NM_000267.3(NF1):c.1721+3A>GSNV Pathogenic 374108 rs1057518904 17:29548950-29548950 17:31221932-31221932
3 NF1 NM_000267.3(NF1):c.1756_1759del (p.Thr586fs)deletion Pathogenic 186215 rs786202782 17:29550494-29550497 17:31223476-31223479
4 NF1 NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu)SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
5 NF1 NM_000267.3(NF1):c.4812C>G (p.Tyr1604Ter)SNV Pathogenic 523344 rs1555533285 17:29652877-29652877 17:31325859-31325859
6 NF1 NM_000267.3(NF1):c.6641+2deldeletion Pathogenic 523350 rs1555534929 17:29664900-29664900 17:31337882-31337882
7 NF1 NM_001042492.3(NF1):c.2388del (p.Ala797fs)deletion Pathogenic 635819 17:29554600-29554600 17:31227582-31227582
8 NF1 NM_000267.3(NF1):c.7000-2A>GSNV Pathogenic 635820 17:29670025-29670025 17:31343007-31343007
9 NF1 NM_000267.3(NF1):c.7395-1G>CSNV Pathogenic 635818 17:29679274-29679274 17:31352256-31352256
10 NF1 NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter)duplication Pathogenic 637012 17:29556250-29556251 17:31229232-31229233
11 NF1 NM_000267.3(NF1):c.7385_7394del (p.Pro2462fs)deletion Pathogenic 638015 17:29677327-29677336 17:31350309-31350318
12 NF1 NM_000267.3(NF1):c.2252-3T>GSNV Likely pathogenic 374022 rs1057518842 17:29554233-29554233 17:31227215-31227215
13 NF1 NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr)SNV Conflicting interpretations of pathogenicity 523345 rs1555618516 17:29585423-29585423 17:31258405-31258405
14 NF1 NM_000267.3(NF1):c.1919C>T (p.Thr640Ile)SNV Uncertain significance 635821 17:29552186-29552186 17:31225168-31225168
15 PTPN11 NM_002834.4(PTPN11):c.1226G>C (p.Gly409Ala)SNV Uncertain significance 44596 rs201247699 12:112924280-112924280 12:112486476-112486476

Expression for Neurofibroma

Search GEO for disease gene expression data for Neurofibroma.

Pathways for Neurofibroma

Pathways related to Neurofibroma according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 TP53 S100B S100A1 PTEN PDGFRA NF1
2
Show member pathways
13.7 TP53 SOX10 PTEN PDGFRA NF1 MUC1
3
Show member pathways
13.21 TP53 PDGFRA NF1 MUC1 KITLG KIT
4
Show member pathways
13.05 TP53 PTEN PDGFRA KITLG KIT EGFR
5
Show member pathways
12.99 TP53 PTEN PDGFRA KITLG KIT EGFR
6
Show member pathways
12.91 TP53 PTEN PDGFRA KITLG KIT EGFR
7
Show member pathways
12.73 TP53 PTEN PDGFRA KIT EGFR CDKN2A
8
Show member pathways
12.69 TP53 PTEN KIT EGFR CDKN2A
9
Show member pathways
12.66 PDGFRA NF1 KITLG KIT EGFR
10 12.62 TP53 PDGFRA NF1 KITLG KIT EGFR
11
Show member pathways
12.57 TP53 PTEN PDGFRA KITLG KIT EGFR
12
Show member pathways
12.54 TP53 PTEN PDGFRA NF1 EGFR
13 12.48 TP53 PTEN PDGFRA MITF KITLG KIT
14 12.42 SYP S100B NF2 NF1 MAG CNP
15 12.41 TP53 PTEN PDGFRA EGFR CDKN2A
16
Show member pathways
12.4 TP53 PTEN PDGFRA NF1 MITF EGFR
17
Show member pathways
12.34 PDGFRA KITLG KIT EGFR
18
Show member pathways
12.17 TP53 PDGFRA KITLG KIT EGFR
19
Show member pathways
12.09 PTEN MITF KITLG KIT
20 12.06 TP53 PTEN NF1 EGFR
21 12.02 PDGFRA KITLG KIT EGFR
22 11.71 KITLG KIT CD34
23 11.67 TP53 EGFR CDKN2A
24 11.63 SYP SOX10 S100B PDGFRA
25 11.57 NF1 MAG CNP
26 11.38 TP53 PDGFRA EGFR CDKN2A
27 11.24 SOX10 MITF KITLG KIT
28 11.21 TP53 PTEN PDGFRA NF2 NF1 EGFR
29 11.19 TP53 PTEN PDGFRA KIT EGFR
30 10.51 MAG CNP

GO Terms for Neurofibroma

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.89 TP53 SOX10 S100B S100A1 PTEN PDGFRA
2 perinuclear region of cytoplasm GO:0048471 9.63 SYP S100B NF2 EGFR CNP CD34
3 myelin sheath adaxonal region GO:0035749 8.8 PTEN MAG CNP

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10 TP53 PTEN NF2 NF1 CDKN2A
2 negative regulation of apoptotic process GO:0043066 9.93 TP53 SOX10 PTEN MITF KITLG EGFR
3 cell proliferation GO:0008283 9.92 TP53 PTEN EGFR CD34
4 positive regulation of apoptotic process GO:0043065 9.92 TP53 S100B PTEN NF1 CDKN2A
5 positive regulation of cell proliferation GO:0008284 9.91 S100B PTEN PDGFRA KITLG KIT EGFR
6 positive regulation of protein kinase B signaling GO:0051897 9.84 PDGFRA KITLG KIT EGFR
7 regulation of protein stability GO:0031647 9.82 PTEN NF2 CDKN2A
8 negative regulation of protein kinase activity GO:0006469 9.81 NF2 NF1 CDKN2A
9 negative regulation of cell migration GO:0030336 9.81 PTEN NF2 NF1 MITF
10 MAPK cascade GO:0000165 9.8 PDGFRA NF1 KITLG KIT EGFR
11 Ras protein signal transduction GO:0007265 9.79 TP53 NF1 CDKN2A
12 cellular response to drug GO:0035690 9.78 TP53 SOX10 EGFR
13 hematopoietic progenitor cell differentiation GO:0002244 9.77 TP53 PDGFRA KIT
14 positive regulation of MAP kinase activity GO:0043406 9.76 KITLG KIT EGFR
15 learning or memory GO:0007611 9.75 S100B PTEN EGFR
16 pigmentation GO:0043473 9.67 NF1 MITF KIT
17 wound healing GO:0042060 9.67 TP53 PDGFRA NF1 EGFR
18 regulation of mitochondrial membrane permeability GO:0046902 9.65 TP53 CNP
19 cellular response to reactive oxygen species GO:0034614 9.65 TP53 PDGFRA EGFR
20 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.63 TP53 EGFR
21 somatic stem cell division GO:0048103 9.63 KIT CDKN2A
22 forebrain morphogenesis GO:0048853 9.61 PTEN NF1
23 positive regulation of transcription from RNA polymerase II promoter in response to stress GO:0036003 9.57 TP53 MUC1
24 ectopic germ cell programmed cell death GO:0035234 9.56 KITLG KIT
25 negative regulation of neuroblast proliferation GO:0007406 9.55 TP53 NF1
26 melanocyte differentiation GO:0030318 9.5 SOX10 MITF KIT
27 positive regulation of gene expression GO:0010628 9.5 TP53 SOX10 PTEN MITF KIT CDKN2A
28 negative regulation of cell-matrix adhesion GO:0001953 9.43 NF2 NF1 CDKN2A
29 positive regulation of myelination GO:0031643 9.33 SOX10 S100B MAG
30 regulation of cell proliferation GO:0042127 9.1 TP53 NF2 NF1 MITF KIT EGFR

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.55 TP53 PTEN MAG EGFR CDKN2A
2 identical protein binding GO:0042802 9.5 TP53 SYP SOX10 S100B S100A1 PTEN
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 PDGFRA KIT EGFR

Sources for 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
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