MCID: NRF007
MIFTS: 66

Neurofibroma

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurofibroma

MalaCards integrated aliases for Neurofibroma:

Name: Neurofibroma 12 77 54 60 56 45 15 17 74
Neurofibromas 30 6
Nerve Sheath Tumors 74
Neurofibromatoses 74

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:962
MeSH 45 D009455
NCIt 51 C3272
SNOMED-CT 69 89084002
UMLS via Orphanet 75 C0027830
Orphanet 60 ORPHA252183

Summaries for Neurofibroma

NIH Rare Diseases : 54 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 plexiform neurofibroma and atypical 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 ERK Signaling and Cytokine Signaling in Immune system. The drugs Lidocaine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spinal cord, and related phenotypes are periarticular subcutaneous nodules and plexiform neurofibroma

Wikipedia : 77 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 447)
# Related Disease Score Top Affiliating Genes
1 plexiform neurofibroma 34.3 NF1 NF2
2 atypical neurofibroma 33.1 CDKN2A NF1 NF2 SOX10
3 neurofibromatosis, type i 32.5 KIT NF1 PDGFRA
4 neurofibromatosis, type iv, of riccardi 32.2 KIT NF1 NF2 PDGFRA
5 neurofibrosarcoma 31.3 NF1 NF2
6 intraneural perineurioma 31.2 MUC1 NF1 S100B SOX10
7 perineurioma 30.2 KIT MUC1 S100B
8 cutaneous fibrous histiocytoma 30.2 F13A1 S100B
9 malignant peripheral nerve sheath tumor 30.2 CDKN2A KIT MUC1 NF1 NF2 PDGFRA
10 benign ependymoma 30.1 NF2 SYP
11 myxopapillary ependymoma 30.1 MUC1 S100B
12 localized hypertrophic neuropathy 30.0 MUC1 S100B
13 hemangiopericytoma, malignant 29.9 F13A1 MUC1 S100B
14 ganglioglioma 29.8 S100B SYP TP53
15 glioma 29.7 CDKN2A NF1 PDGFRA TP53
16 chordoma 29.7 CDKN2A MUC1 PDGFRA S100B
17 spinal meningioma 29.7 NF1 NF2 SOX10
18 meningioma, familial 29.6 CDKN2A NF1 NF2 SYP TP53
19 adenocarcinoma 29.6 CDKN2A KIT MUC1 TP53
20 teratoma 29.5 KIT SYP TP53
21 ependymoma 29.5 MUC1 NF2 S100B SYP
22 ewing's family of tumors 29.4 CDKN2A KIT KITLG
23 carcinosarcoma 29.4 KIT MUC1 TP53
24 optic nerve glioma 29.3 MUC1 NF1 S100B SYP TP53
25 neurilemmoma 29.2 KIT NF1 NF2 PDGFRA S100B SOX10
26 gastric adenocarcinoma 29.1 CDKN2A KIT MUC1 TP53
27 malignant spindle cell melanoma 29.1 KIT MITF NF1 SOX10
28 cellular schwannoma 28.7 CDKN2A NF1 NF2 S100B SOX10 TP53
29 gastrointestinal stromal tumor 28.4 CDKN2A KIT KITLG NF1 PDGFRA S100B
30 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 12.5
31 cellular neurofibroma 12.2
32 neurofibroma of gallbladder 12.2
33 neurofibroma of the esophagus 12.2
34 neurofibroma of the heart 12.2
35 epithelioid neurofibroma 12.1
36 mediastinum neurofibroma 12.1
37 neurofibroma of spinal cord 12.0
38 watson syndrome 11.5
39 neurofibromatosis-noonan syndrome 11.5
40 pacinian tumor 11.4
41 legius syndrome 11.4
42 chromosome 17q11.2 deletion syndrome 11.3
43 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.1
44 bladder benign neoplasm 11.1
45 infantile myofibromatosis 11.1
46 conventional leiomyosarcoma 10.5 CDKN2A NF1
47 immature cataract 10.5 NF1 NF2
48 trigeminal nerve neoplasm 10.5 NF1 NF2
49 neurilemmoma of the fifth cranial nerve 10.5 NF1 NF2
50 thyroid lymphoma 10.5 CDKN2A TP53

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to Neurofibroma

Symptoms & Phenotypes for Neurofibroma

Human phenotypes related to Neurofibroma:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periarticular subcutaneous nodules 60 33 frequent (33%) Frequent (79-30%) HP:0007470
2 plexiform neurofibroma 60 33 frequent (33%) Frequent (79-30%) HP:0009732
3 enlarged peripheral nerve 60 33 frequent (33%) Frequent (79-30%) HP:0012645
4 subcutaneous neurofibromas 60 33 frequent (33%) Frequent (79-30%) HP:0100698
5 spinal canal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003416
6 peripheral nerve compression 60 33 occasional (7.5%) Occasional (29-5%) HP:0003406
7 paraspinal neurofibromas 60 33 occasional (7.5%) Occasional (29-5%) HP:0006751
8 symmetric spinal nerve root neurofibromas 60 33 occasional (7.5%) Occasional (29-5%) HP:0006851
9 abnormal cranial nerve morphology 33 occasional (7.5%) HP:0001291
10 macrocephaly 60 33 very rare (1%) Very rare (<4-1%) HP:0000256
11 recurrent otitis media 60 33 very rare (1%) Very rare (<4-1%) HP:0000403
12 kyphoscoliosis 60 33 very rare (1%) Very rare (<4-1%) HP:0002751
13 neoplasm of the breast 60 33 very rare (1%) Very rare (<4-1%) HP:0100013
14 intestinal bleeding 60 33 very rare (1%) Very rare (<4-1%) HP:0002584
15 enlargement of parotid gland 60 33 very rare (1%) Very rare (<4-1%) HP:0011801
16 abnormal biliary tract morphology 60 33 very rare (1%) Very rare (<4-1%) HP:0012440
17 spinal meningioma 60 33 very rare (1%) Very rare (<4-1%) HP:0100010
18 multiple intestinal neurofibromatosis 60 33 very rare (1%) Very rare (<4-1%) HP:0005220
19 peripheral schwannoma 60 33 very rare (1%) Very rare (<4-1%) HP:0009593
20 atypical neurofibromatosis 60 33 very rare (1%) Very rare (<4-1%) HP:0007524
21 palmar neurofibromas 60 33 very rare (1%) Very rare (<4-1%) HP:0007576
22 facial neoplasm 60 33 very rare (1%) Very rare (<4-1%) HP:0012289
23 neoplasia of the pleura 60 33 very rare (1%) Very rare (<4-1%) HP:0100527
24 neoplasm of the trachea 60 33 very rare (1%) Very rare (<4-1%) HP:0100551
25 melanocytic nevus 60 Excluded (0%)
26 skin tags 60 Excluded (0%)
27 neurofibromas 60 Obligate (100%)
28 abnormality of the cranial nerves 60 Occasional (29-5%)
29 spinal neurofibromas 60 Occasional (29-5%)

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.86 PDGFRA
2 Decreased viability GR00221-A-1 9.86 CDKN2A KIT NF1 PDGFRA
3 Decreased viability GR00221-A-2 9.86 NF1
4 Decreased viability GR00221-A-3 9.86 CDKN2A PDGFRA
5 Decreased viability GR00221-A-4 9.86 CDKN2A NF1 PDGFRA
6 Decreased viability GR00301-A 9.86 KIT
7 Decreased viability GR00402-S-2 9.86 CDKN2A KIT NF1 PDGFRA
8 Increased proliferation GR00094-A 8.62 NF2 TP53

MGI Mouse Phenotypes related to Neurofibroma:

47 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 CDKN2A KIT MITF NF1 NF2 PDGFRA
2 homeostasis/metabolism MP:0005376 10.28 CDKN2A F13A1 KIT KITLG MITF NF1
3 endocrine/exocrine gland MP:0005379 10.27 CDKN2A F13A1 KIT KITLG MITF NF1
4 embryo MP:0005380 10.24 CDKN2A KIT KITLG MITF NF1 NF2
5 growth/size/body region MP:0005378 10.22 CDKN2A KIT KITLG MITF NF1 NF2
6 integument MP:0010771 10.22 CDKN2A KIT KITLG MITF NF1 NF2
7 mortality/aging MP:0010768 10.18 CDKN2A F13A1 KIT KITLG MITF NF1
8 hematopoietic system MP:0005397 10.15 CDKN2A F13A1 KIT KITLG MITF NF1
9 craniofacial MP:0005382 10.14 KIT KITLG MITF NF1 NF2 PDGFRA
10 digestive/alimentary MP:0005381 10.14 CDKN2A KIT KITLG NF1 PDGFRA SOX10
11 nervous system MP:0003631 10.13 CDKN2A KIT KITLG MITF NF1 NF2
12 neoplasm MP:0002006 10.06 CDKN2A KIT KITLG NF1 NF2 PDGFRA
13 limbs/digits/tail MP:0005371 10.05 KIT KITLG MITF NF1 PDGFRA SOX10
14 hearing/vestibular/ear MP:0005377 10.03 KIT KITLG MITF NF1 NF2 TP53
15 liver/biliary system MP:0005370 9.97 CDKN2A KIT KITLG NF1 NF2 TP53
16 normal MP:0002873 9.97 KIT MITF NF1 PDGFRA S100B SOX10
17 pigmentation MP:0001186 9.92 CDKN2A KIT KITLG MITF NF1 PDGFRA
18 no phenotypic analysis MP:0003012 9.88 CDKN2A KIT MITF PDGFRA SOX10 TP53
19 reproductive system MP:0005389 9.86 CDKN2A F13A1 KIT KITLG MITF NF2
20 respiratory system MP:0005388 9.76 CDKN2A F13A1 KIT NF1 NF2 PDGFRA
21 skeleton MP:0005390 9.56 CDKN2A KIT KITLG MITF NF1 NF2
22 vision/eye MP:0005391 9.17 CDKN2A KIT KITLG MITF NF1 NF2

Drugs & Therapeutics for Neurofibroma

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

(show top 50) (show all 241)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
7
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
8
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
10 Gentamicins Phase 4,Not Applicable
11 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
14 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
15 Analgesics Phase 4,Phase 2,Phase 1,Not Applicable
16 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
18 glucocorticoids Phase 4,Not Applicable
19 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
21 Hormone Antagonists Phase 4,Not Applicable
22 Dopamine Uptake Inhibitors Phase 4
23 Neurotransmitter Uptake Inhibitors Phase 4
24 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
25 Central Nervous System Stimulants Phase 4,Not Applicable
26 Dopamine Agents Phase 4
27 Anesthetics Phase 4,Phase 1,Not Applicable,Early Phase 1
28 Anesthetics, Local Phase 4,Phase 1,Early Phase 1,Not Applicable
29 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
30
Glycopyrrolate Phase 4 596-51-0 3494
31 Anesthetics, General Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Adrenergic alpha-2 Receptor Agonists Phase 4
34 Hypnotics and Sedatives Phase 4
35 Adrenergic Agents Phase 4
36 Adrenergic Agonists Phase 4
37 Anesthetics, Intravenous Phase 4
38 Triamcinolone hexacetonide Phase 4
39 triamcinolone acetonide Phase 4
40 Triamcinolone diacetate Phase 4
41
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
42
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Not Applicable 51-75-2 4033
43
Ifosfamide Approved Phase 3,Phase 2,Not Applicable 3778-73-2 3690
44
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
45
Dacarbazine Approved, Investigational Phase 3,Phase 2 4342-03-4 5351166
46
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
47
Carboplatin Approved Phase 3,Phase 1 41575-94-4 10339178 38904 498142
48
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 2713 9552079
49
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
50
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150

Interventional clinical trials:

(show top 50) (show all 282)
# Name Status NCT ID Phase Drugs
1 Gentamicin Treatment Prior to Schwannoma Surgery - Residual Function Unknown status NCT02379754 Phase 4 Gentamicins
2 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
3 Pathophysiology of Post Amputation Pain Completed NCT01632709 Phase 4 Bupivacaine;Placebo
4 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
5 Blind and Ultrasound Guided Injection in Morton Neuroma Recruiting NCT03046108 Phase 4 blind injection of Mepivacaine;blind injection of Triamcinolone;guided injection of mepivacaine;guided injection of Triamcinolone
6 Gentamicin Treatment Prior to Schwannoma Surgery - No Residual Function Recruiting NCT02415257 Phase 4 Gentamicin
7 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
8 Stereotactic Radiation in Vestibular Schwannoma Unknown status NCT01449604 Phase 3
9 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
10 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
11 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
12 Localized High-Risk Soft Tissue Sarcomas Of The Extremities And Trunk Wall In Adults: An Integrating Approach Comprising Standard Vs Histotype-Tailored Neoadjuvant Chemotherapy Recruiting NCT01710176 Phase 3 epirubicin 60 mg/m2/day (days 1, 2) and ifosfamide 3 g/m2/day (days 1, 2, 3);gemcitabine 900 mg/m2 (days 1 and 8) and docetaxel 75 mg/m2 (day 8);trabectedin 1.3 mg/m2;high-dose ifosfamide 14 g/m2, given in in 14 days;etoposide 150 mg/m2/day (days 1, 2, 3) and ifosfamide 3g/m2/day (days 1, 2, 3);gemcitabine 1800 mg/m2 (day 1) and dacarbazine 500 mg/m2 (day 1)
13 Cyberknife Radiosurgery for Patients With Neurinomas Recruiting NCT02055859 Phase 3
14 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
15 Selumetinib Versus Carboplatin/Vincristine in Treating Patients With Newly Diagnosed or Previously Untreated NF1-Associated Low-Grade Glioma Not yet recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
16 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
17 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
18 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
19 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
20 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
21 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
22 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
23 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
24 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
25 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
26 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
27 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
28 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
29 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
30 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
31 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
32 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
33 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
34 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
35 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
36 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
37 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
38 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
39 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
40 SARC023: Ganetespib and Sirolimus in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
41 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
42 Alisertib in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01653028 Phase 2 Alisertib
43 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
44 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
45 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2 Sorafenib and Dacarbazine
46 Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
47 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
48 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
49 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2 erlotinib hydrochloride
50 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2 temsirolimus plus liposomal doxorubicin

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 30

Anatomical Context for Neurofibroma

MalaCards organs/tissues related to Neurofibroma:

42
Bone, Skin, Spinal Cord, Tongue, Brain, Kidney, Trachea

Publications for Neurofibroma

Articles related to Neurofibroma:

(show top 50) (show all 2115)
# Title Authors Year
1
Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. ( 31091306 )
2019
2
Can we differentiate malignant peripheral nerve sheath tumor from benign neurofibroma without invasive sampling. ( 30774551 )
2019
3
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2019
4
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 )
2019
5
Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1. ( 30444769 )
2019
6
Nail bed solitary neurofibroma: A case report and literature review. ( 30653135 )
2019
7
Novel Three-Dimensional Morphometry to Reassess Orbit Deformities Associated With Orbital-Periorbital Plexiform Neurofibroma. ( 30664557 )
2019
8
Cxcr3-expressing leukocytes are necessary for neurofibroma formation in mice. ( 30728335 )
2019
9
Collision of Subungual Neurofibroma and Onychomatricoma: S100 Positivity as a Clue. ( 30730391 )
2019
10
Two cases of debulking surgery for lower limb diffuse plexiform neurofibroma with transcatheter arterial embolisation. ( 30738368 )
2019
11
Topical sirolimus as an effective treatment for a deep neurofibroma in a patient with neurofibromatosis type I. ( 30828862 )
2019
12
Hybrid Neurofibroma/Schwannoma of the Orbit. ( 30856631 )
2019
13
Simultaneous Forehead Lift and Blepharoplasty Techniques in Management of Orbito-Temporal Plexiform Neurofibroma. ( 30889063 )
2019
14
Dumb-bell shaped cervical neurofibroma. ( 30907956 )
2019
15
Solitary neurofibroma of seminal vesicle. ( 30924442 )
2019
16
Isolated Vocal Fold Neurofibroma. ( 30955375 )
2019
17
Solitary neurofibroma of the palate mimicking mucocele: A rare case report. ( 30967718 )
2019
18
Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1. ( 31038470 )
2019
19
Activated androgen receptor accelerates angiogenesis in cutaneous neurofibroma by regulating VEGFA transcription. ( 31059067 )
2019
20
Lisch nodule - ophthalmologic marker of Neurofibroma 1. ( 31086973 )
2019
21
Cutaneous Pigmented Neurofibroma in a Pig - Morphology and Immunohistochemical Profile. ( 31103055 )
2019
22
Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1. ( 31110582 )
2019
23
Sporadic Neurofibroma of the Tongue Unassociated with Neurofibromatosis Type I: A Clinicopathologic Study of Ten Cases. ( 31111316 )
2019
24
Beyond "Triton": Malignant Peripheral Nerve Sheath Tumors With Complete Heterologous Rhabdomyoblastic Differentiation Mimicking Spindle Cell Rhabdomyosarcoma. ( 31107719 )
2019
25
Neurofibromatosis type I with malignant peripheral nerve sheath tumors in the upper arm: A case report. ( 30921223 )
2019
26
Radiation-induced and neurofibromatosis-associated malignant peripheral nerve sheath tumors (MPNST) have worse outcomes than sporadic MPNST. ( 31078939 )
2019
27
Absence of Efficacy of Everolimus in Neurofibromatosis 1-Related Plexiform Neurofibromas: Results from a Phase 2a Trial. ( 30339775 )
2019
28
Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging. ( 30496452 )
2019
29
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas. ( 30713041 )
2019
30
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas. ( 30722027 )
2019
31
A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1. ( 30800298 )
2019
32
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas. ( 30840859 )
2019
33
Long-term survival of a patient with neurofibromatosis type 1 diagnosed with multiple malignant peripheral nerve sheath tumors. ( 29963712 )
2019
34
Vitamin D receptor expression and serum 25(OH)D concentration inversely associates with burden of neurofibromas. ( 30299316 )
2019
35
Enigma in management of plexiform neurofibromas of bilateral brachial and lumbosacral plexuses: Shall we let nature take its course? ( 30688252 )
2019
36
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. ( 30843352 )
2019
37
Hyalinized Neurofibromas: Not Just Rare Variants in Skin of the Female Breast. ( 30870167 )
2019
38
Needle in a Haystack: Identifying Drivers of Malignant Transformation in Neurofibromas. ( 31099395 )
2019
39
The evolution and multi-molecular properties of NF1 cutaneous neurofibromas originating from C-fiber sensory endings and terminal Schwann cells at normal sites of sensory terminations in the skin. ( 31107888 )
2019
40
Sodium Fluorescein-Guided Surgery in Peripheral Nerve Sheath Tumors: First Experience in 10 Cases of Schwannoma. ( 30660884 )
2019
41
Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ( 28719433 )
2018
42
A neurofibroma-like tumor in a giant congenital nevus. ( 30277018 )
2018
43
A Phase II Trial of Sorafenib and Dacarbazine for Leiomyosarcoma, Synovial Sarcoma, and Malignant Peripheral Nerve Sheath Tumors. ( 30126857 )
2018
44
Immunohistochemical analysis of epigenetic factors to differentiate malignant peripheral nerve sheath tumor from benign neurofibroma in a patient with mosaic neurofibromatosis type 1: H3 lysine 27 trimethylation stain and enhancer of zeste homolog 2 stain. ( 29687471 )
2018
45
Mannose-binding lectin deficiency associated with numerous paraspinal neurofibromas. ( 29162315 )
2018
46
Biology and Management of Undifferentiated Pleomorphic Sarcoma, Myxofibrosarcoma, and Malignant Peripheral Nerve Sheath Tumors: State of the Art and Perspectives. ( 29220302 )
2018
47
Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. ( 29718344 )
2018
48
Bilateral orbital isolated (solitary) neurofibroma in the absence of neurofibromatosis - A case report. ( 29755279 )
2018
49
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
50
Solitary vulvar neurofibroma in a patient without neurofibromatosis. ( 29767492 )
2018

Variations for Neurofibroma

ClinVar genetic disease variations for Neurofibroma:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
2 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
3 PTPN11 NM_002834.4(PTPN11): c.1226G> C (p.Gly409Ala) single nucleotide variant Uncertain significance rs201247699 GRCh37 Chromosome 12, 112924280: 112924280
4 PTPN11 NM_002834.4(PTPN11): c.1226G> C (p.Gly409Ala) single nucleotide variant Uncertain significance rs201247699 GRCh38 Chromosome 12, 112486476: 112486476
5 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh38 Chromosome 17, 31221932: 31221932
6 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh37 Chromosome 17, 29548950: 29548950
7 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh37 Chromosome 17, 29554233: 29554233
8 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh38 Chromosome 17, 31227215: 31227215
9 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh38 Chromosome 17, 31258405: 31258405
10 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555618516 GRCh37 Chromosome 17, 29585423: 29585423
11 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic rs1555533285 GRCh37 Chromosome 17, 29652877: 29652877
12 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic rs1555533285 GRCh38 Chromosome 17, 31325859: 31325859
13 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic rs1555534929 GRCh37 Chromosome 17, 29664900: 29664900
14 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic rs1555534929 GRCh38 Chromosome 17, 31337882: 31337882

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 CDKN2A KIT KITLG MUC1 NF1 PDGFRA
2
Show member pathways
12.98 F13A1 KIT KITLG MUC1 NF1 PDGFRA
3
Show member pathways
12.51 KIT KITLG NF1 PDGFRA
4
Show member pathways
12.49 KIT KITLG PDGFRA TP53
5 12.46 CDKN2A KIT KITLG MITF PDGFRA TP53
6
Show member pathways
12.43 CDKN2A MITF NF1 PDGFRA TP53
7 12.43 KIT KITLG NF1 PDGFRA TP53
8 12.31 NF1 NF2 S100B SYP
9
Show member pathways
12.01 KIT KITLG PDGFRA TP53
10
Show member pathways
11.97 KIT KITLG MITF
11 11.9 KIT KITLG PDGFRA
12 11.76 F13A1 MUC1 TP53
13 11.45 KIT PDGFRA TP53
14 11.35 PDGFRA S100B SOX10 SYP
15 11.29 CDKN2A PDGFRA TP53
16 11.07 CDKN2A NF1 NF2 PDGFRA TP53
17 10.93 CDKN2A TP53
18
Show member pathways
10.92 CDKN2A TP53
19 10.87 KIT KITLG MITF SOX10
20 10.74 KIT KITLG

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 9.36 CDKN2A F13A1 KIT KITLG MUC1 NF1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.9 CDKN2A NF1 NF2 TP53
2 positive regulation of apoptotic process GO:0043065 9.87 CDKN2A NF1 S100B TP53
3 cytokine-mediated signaling pathway GO:0019221 9.8 F13A1 KIT MUC1 TP53
4 positive regulation of gene expression GO:0010628 9.77 CDKN2A KIT MITF SOX10 TP53
5 negative regulation of cell migration GO:0030336 9.76 MITF NF1 NF2
6 MAPK cascade GO:0000165 9.71 KIT KITLG NF1 PDGFRA
7 negative regulation of protein kinase activity GO:0006469 9.65 CDKN2A NF1 NF2
8 regulation of cell proliferation GO:0042127 9.62 KIT MITF NF1 NF2
9 adrenal gland development GO:0030325 9.61 NF1 PDGFRA
10 regulation of long-term neuronal synaptic plasticity GO:0048169 9.61 NF1 SYP
11 Ras protein signal transduction GO:0007265 9.61 CDKN2A NF1 TP53
12 regulation of neuronal synaptic plasticity GO:0048168 9.59 S100B SYP
13 embryonic hemopoiesis GO:0035162 9.58 KIT KITLG
14 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.56 MUC1 TP53
15 positive regulation of myelination GO:0031643 9.55 S100B SOX10
16 positive regulation of phospholipase C activity GO:0010863 9.54 KIT PDGFRA
17 replicative senescence GO:0090399 9.52 CDKN2A TP53
18 somatic stem cell division GO:0048103 9.51 CDKN2A KIT
19 ectopic germ cell programmed cell death GO:0035234 9.46 KIT KITLG
20 negative regulation of apoptotic process GO:0043066 9.46 KITLG MITF SOX10 TP53
21 pigmentation GO:0043473 9.43 KIT MITF NF1
22 negative regulation of cell-matrix adhesion GO:0001953 9.13 CDKN2A NF1 NF2
23 melanocyte differentiation GO:0030318 8.8 KIT MITF SOX10

Sources for Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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