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MCID: NRF007
MIFTS: 65

Neurofibroma

Categories: Rare diseases, Neuronal diseases, Cancer diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neurofibroma

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MalaCards integrated aliases for Neurofibroma:

Name: Neurofibroma 12 72 49 55 51 41 14 69
Nerve Sheath Tumors 69
Neurofibromatoses 69
Neurofibromas 28

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:962
MeSH 41 D009455
NCIt 46 C3272
Orphanet 55 ORPHA252183
UMLS via Orphanet 70 C0027830
UMLS 69 C0027830
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Summaries for Neurofibroma

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NIH Rare Diseases : 49 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. Last updated: 7/20/2015

MalaCards based summary : Neurofibroma, also known as nerve sheath tumors, is related to plexiform neurofibroma and atypical neurofibroma, and has symptoms including periarticular subcutaneous nodules, plexiform neurofibroma and enlarged peripheral nerve. 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 Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

Wikipedia : 72 A neurofibroma is a benign nerve sheath tumor in the peripheral nervous system. In 90% of cases they\'re... more...

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Related Diseases for Neurofibroma

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

(show top 50) (show all 345)
# Related Disease Score Top Affiliating Genes
1 plexiform neurofibroma 34.0 NF1 NF2
2 atypical neurofibroma 32.7 CDKN2A NF1 NF2 SOX10
3 neurofibromatosis, type i 31.8 KIT NF1 PDGFRA
4 intraneural perineurioma 30.9 MUC1 NF1 S100B SOX10
5 neurofibrosarcoma 30.5 NF1 NF2
6 neurofibromatosis, type iv, of riccardi 30.3 KIT NF1 NF2 PDGFRA S100B
7 monosomy 22 30.1 CTNNA3 NF2
8 localized hypertrophic neuropathy 30.0 MUC1 S100B
9 perineurioma 30.0 KIT MUC1 S100B
10 myxopapillary ependymoma 29.9 MUC1 S100B
11 hemangiopericytoma, malignant 29.9 F13A1 MUC1 S100B
12 malignant peripheral nerve sheath tumor 29.7 CDKN2A KIT MUC1 NF1 NF2 PDGFRA
13 urticaria pigmentosa 29.6 KIT KITLG
14 astrocytoma 29.5 CDKN2A NF1 S100B SYP
15 meningioma, familial 29.5 MUC1 NF1 NF2 S100B SYP
16 optic nerve glioma 29.4 MUC1 NF1 S100B SYP
17 ependymoma 29.4 MUC1 NF2 S100B SYP
18 melanoma 29.3 CDKN2A KIT MITF PDGFRA S100B
19 dowling-degos disease 1 29.2 KIT KITLG MITF
20 chordoma 29.1 CDKN2A MUC1 PDGFRA S100B
21 malignant spindle cell melanoma 28.7 KIT MITF NF1 SOX10
22 cellular schwannoma 28.7 CDKN2A NF1 NF2 S100B SOX10
23 neurilemmoma 28.1 KIT NF1 NF2 PDGFRA S100B SOX10
24 gastrointestinal stromal tumor 28.1 CDKN2A KIT KITLG NF1 PDGFRA S100B
25 cellular neurofibroma 12.0
26 neurofibroma of gallbladder 12.0
27 neurofibroma of the heart 12.0
28 neurofibroma of the esophagus 12.0
29 epithelioid neurofibroma 11.9
30 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 11.9
31 mediastinum neurofibroma 11.9
32 neurofibroma of spinal cord 11.8
33 legius syndrome 11.2
34 pacinian tumor 11.2
35 watson syndrome 11.0
36 neurofibromatosis-noonan syndrome 10.9
37 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.9
38 infantile myofibromatosis 10.9
39 malignant triton tumor 10.6 NF1 S100B
40 neurofibromatosis, familial spinal 10.6 NF1 NF2
41 malignant glandular tumor of peripheral nerve sheath 10.5 NF1 SYP
42 conventional leiomyosarcoma 10.5 CDKN2A NF1
43 generalized eruptive histiocytosis 10.5 F13A1 S100B
44 primary hepatic neuroendocrine carcinoma 10.5 S100B SYP
45 optic nerve sheath meningioma 10.5 CDKN2A NF2
46 hypoganglionosis 10.5 S100B SYP
47 dysembryoplastic neuroepithelial tumor 10.5 S100B SYP
48 immature cataract 10.5 NF1 NF2
49 rhabdoid meningioma 10.5 NF2 SYP
50 lentigo maligna melanoma 10.5 MITF S100B

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to Neurofibroma
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Symptoms & Phenotypes for Neurofibroma

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Human phenotypes related to Neurofibroma:

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periarticular subcutaneous nodules 55 31 frequent (33%) Frequent (79-30%) HP:0007470
2 plexiform neurofibroma 55 31 frequent (33%) Frequent (79-30%) HP:0009732
3 enlarged peripheral nerve 55 31 frequent (33%) Frequent (79-30%) HP:0012645
4 subcutaneous neurofibromas 55 31 frequent (33%) Frequent (79-30%) HP:0100698
5 abnormality of the cranial nerves 55 31 occasional (7.5%) Occasional (29-5%) HP:0001291
6 peripheral nerve compression 55 31 occasional (7.5%) Occasional (29-5%) HP:0003406
7 spinal canal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003416
8 paraspinal neurofibromas 55 31 occasional (7.5%) Occasional (29-5%) HP:0006751
9 symmetric spinal nerve root neurofibromas 55 31 occasional (7.5%) Occasional (29-5%) HP:0006851
10 macrocephaly 55 31 very rare (1%) Very rare (<4-1%) HP:0000256
11 recurrent otitis media 55 31 very rare (1%) Very rare (<4-1%) HP:0000403
12 intestinal bleeding 55 31 very rare (1%) Very rare (<4-1%) HP:0002584
13 kyphoscoliosis 55 31 very rare (1%) Very rare (<4-1%) HP:0002751
14 multiple intestinal neurofibromatosis 55 31 very rare (1%) Very rare (<4-1%) HP:0005220
15 atypical neurofibromatosis 55 31 very rare (1%) Very rare (<4-1%) HP:0007524
16 palmar neurofibromas 55 31 very rare (1%) Very rare (<4-1%) HP:0007576
17 peripheral schwannoma 55 31 very rare (1%) Very rare (<4-1%) HP:0009593
18 enlargement of parotid gland 55 31 very rare (1%) Very rare (<4-1%) HP:0011801
19 facial neoplasm 55 31 very rare (1%) Very rare (<4-1%) HP:0012289
20 abnormal biliary tract morphology 55 31 very rare (1%) Very rare (<4-1%) HP:0012440
21 spinal meningioma 55 31 very rare (1%) Very rare (<4-1%) HP:0100010
22 neoplasm of the breast 55 31 very rare (1%) Very rare (<4-1%) HP:0100013
23 neoplasia of the pleura 55 31 very rare (1%) Very rare (<4-1%) HP:0100527
24 neoplasm of the trachea 55 31 very rare (1%) Very rare (<4-1%) HP:0100551
25 neurofibromas 55 Obligate (100%)
26 spinal neurofibromas 55 Occasional (29-5%)
27 melanocytic nevus 55 Excluded (0%)
28 skin tags 55 Excluded (0%)

UMLS symptoms related to Neurofibroma:


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

MGI Mouse Phenotypes related to Neurofibroma:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 NF1 PDGFRA S100B NF2 SOX10 SYP
2 homeostasis/metabolism MP:0005376 10.19 NF1 PDGFRA S100B MITF NF2 SOX10
3 endocrine/exocrine gland MP:0005379 10.18 NF2 NF1 PDGFRA SOX10 F13A1 KIT
4 embryo MP:0005380 10.14 NF1 PDGFRA NF2 SOX10 KIT MITF
5 integument MP:0010771 10.13 NF2 S100B NF1 PDGFRA SOX10 KIT
6 mortality/aging MP:0010768 10.13 NF1 PDGFRA MITF NF2 SOX10 CTNNA3
7 craniofacial MP:0005382 10.03 NF1 PDGFRA MITF NF2 KITLG KIT
8 digestive/alimentary MP:0005381 10.02 NF1 PDGFRA SOX10 KITLG KIT CDKN2A
9 nervous system MP:0003631 10.02 NF1 PDGFRA MITF NF2 SOX10 SYP
10 neoplasm MP:0002006 9.95 PDGFRA NF2 NF1 SOX10 KIT CDKN2A
11 limbs/digits/tail MP:0005371 9.93 NF1 PDGFRA SOX10 KITLG KIT MITF
12 hearing/vestibular/ear MP:0005377 9.91 NF1 MITF NF2 KITLG KIT
13 normal MP:0002873 9.87 NF1 PDGFRA MITF S100B SOX10 SYP
14 pigmentation MP:0001186 9.8 NF1 PDGFRA SOX10 KIT MITF CDKN2A
15 reproductive system MP:0005389 9.7 PDGFRA MITF NF2 F13A1 KITLG KIT
16 respiratory system MP:0005388 9.5 NF1 PDGFRA NF2 SOX10 F13A1 KIT
17 skeleton MP:0005390 9.17 NF1 PDGFRA MITF NF2 KITLG KIT
Sources

Drugs & Therapeutics for Neurofibroma

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

(show top 50) (show all 201)
# 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 20748-11-2, 113-45-1 4158
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
5
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
6 glucocorticoids Phase 4
7 Central Nervous System Depressants Phase 4,Phase 1,Early Phase 1
8 Anesthetics Phase 4,Phase 1,Early Phase 1
9 Hormone Antagonists Phase 4
10 Anesthetics, Local Phase 4,Phase 1,Early Phase 1
11 Hormones Phase 4
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1
14 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1
16 Central Nervous System Stimulants Phase 4
17 Gentamicins Phase 4
18 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
19 Neurotransmitter Uptake Inhibitors Phase 4
20 Dopamine Agents Phase 4
21 Dopamine Uptake Inhibitors Phase 4
22 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
24 triamcinolone acetonide Phase 4
25 Triamcinolone diacetate Phase 4
26 Triamcinolone hexacetonide Phase 4
27
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
28
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
29
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
30
Mechlorethamine Approved, Investigational Phase 3,Phase 2 51-75-2 4033
31
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
32
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
34
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
35
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 2713 9552079
36
Epirubicin Approved Phase 3 56420-45-2 41867
37
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150
38
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
39
Docetaxel Approved May 1996, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124 9877265
40 Alkylating Agents Phase 3,Phase 2,Phase 1
41 Sodium Channel Blockers Phase 2, Phase 3,Phase 1,Early Phase 1
42 Diuretics, Potassium Sparing Phase 2, Phase 3,Phase 1,Early Phase 1
43 Antimitotic Agents Phase 3,Phase 2,Phase 1
44 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
45 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
46 Antiviral Agents Phase 3,Phase 2,Phase 1
47 Isophosphamide mustard Phase 3,Phase 2 0
48 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
49 Imatinib Mesylate Phase 2, Phase 3,Phase 1 123596
50 Etoposide phosphate Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 238)

# Name Status NCT ID Phase Drugs
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4 methylphenidate
2 Pathophysiology of Post Amputation Pain Completed NCT01632709 Phase 4 Bupivacaine;Placebo
3 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
4 Gentamicin Treatment Prior to Schwannoma Surgery - No Residual Function Recruiting NCT02415257 Phase 4 Gentamicin
5 Gentamicin Treatment Prior to Schwannoma Surgery - Residual Function Recruiting NCT02379754 Phase 4 Gentamicins
6 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
7 Stereotactic Radiation in Vestibular Schwannoma Unknown status NCT01449604 Phase 3
8 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
9 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
10 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
11 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)
12 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 Recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride
13 Cyberknife Radiosurgery for Patients With Neurinomas Recruiting NCT02055859 Phase 3
14 Vestibular Schwannoma - Radiosurgery or Expectation: V-REX. Recruiting NCT02249572 Phase 2, Phase 3
15 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
16 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
17 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
18 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
19 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
20 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
21 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
22 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
23 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
24 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
25 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
26 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
27 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
28 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
29 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
30 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
31 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
32 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
33 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
34 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2 erlotinib hydrochloride
35 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
36 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2 Sorafenib and Dacarbazine
37 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
38 Alisertib in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01653028 Phase 2 Alisertib
39 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
40 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2 temsirolimus (Torisel) plus liposomal doxorubicin (Doxil)
41 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
42 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
43 An Study to Evaluate the Safety and Efficacy of CNTX-4975 in Subjects With Painful Intermetatarsal Neuroma (Morton's Neuroma) Completed NCT02678793 Phase 2 CNTX-4975
44 ALGRX 4975 in the Treatment of Patients With Morton's Neuroma Completed NCT00130962 Phase 2 ALGRX 4975
45 A Study to Evaluate the Efficacy and Safety of CNTX-4975 in Subjects With Painful Intermetatarsal Neuroma (Morton's Neuroma) Completed NCT02283957 Phase 2 CNTX-4975
46 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
47 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
48 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
49 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
50 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib

Search NIH Clinical Center for Neurofibroma

Cochrane evidence based reviews: neurofibroma

Sources

Genetic Tests for Neurofibroma

About this section

Genetic tests related to Neurofibroma:

# Genetic test Affiliating Genes
1 Neurofibromas 28
Sources

Anatomical Context for Neurofibroma

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MalaCards organs/tissues related to Neurofibroma:

38
Bone, Skin, Brain, Breast, Tongue, Colon, Trachea
Sources

Publications for Neurofibroma

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Articles related to Neurofibroma:

(show top 50) (show all 909)
# Title Authors Year
1
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
2
Cardiac malignant peripheral nerve sheath tumours arising from atrial neurofibroma as an unusual complication of neurofibromatosis. ( 29399771 )
2018
3
A brief report of plexiform neurofibroma. ( 29449010 )
2018
4
Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5. ( 29441226 )
2018
5
Distinguishing Neurofibroma From Desmoplastic Melanoma: The Value of p53. ( 29112020 )
2018
6
Neurofibroma of the Nasal Ala: Pediatric Nasal Reconstruction. ( 29420386 )
2018
7
Neurofibroma of the peroneal nerve. ( 29291298 )
2018
8
Neurofibroma not associated with neurofibromatosis. ( 29319284 )
2018
9
Mannose-binding lectin deficiency associated with numerous paraspinal neurofibromas. ( 29162315 )
2018
10
Development of 3D culture models of plexiform neurofibroma and initial application for phenotypic characterization and drug screening. ( 29055717 )
2018
11
Neurofibroma involving obturator nerve mimicking an adnexal mass: a rare case report and PRISMA-driven systematic review. ( 29426349 )
2018
12
Plexiform neurofibroma causing an ossifying subperiosteal haematoma: a rare case in the tibia of an 11-year-old girl. ( 28623408 )
2017
13
Plexiform Neurofibroma of Clitoris. ( 29142769 )
2017
14
Solitary Plexiform Neurofibroma of the Hepatic Artery. ( 28948502 )
2017
15
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
16
Giant congenital Becker's nevus overlying a plexiform neurofibroma: Merely a coincidence or more than it? ( 29210362 )
2017
17
Expression of the BRAF L597Q mutation in sporadic neurofibromas of the upper extremity. ( 29162506 )
2017
18
A rare case of diffuse neurofibroma masquerading as a hemangioma: a radiological perspective. ( 29204240 )
2017
19
Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors. ( 28813519 )
2017
20
Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ( 28719433 )
2017
21
An unexpected manifestation of extensive plexiform neurofibroma. ( 28681789 )
2017
22
Plexiform neurofibroma as a cause of carpal tunnel syndrome in a radial deficiency patient. ( 28554231 )
2017
23
Isolated Neurofibroma of the Orbit: Case Report and Literature Review. ( 28582370 )
2017
24
Solitary neurofibroma of eyelid masquerading as chalazion. ( 28579839 )
2017
25
Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report. ( 28690538 )
2017
26
A Unique Case of Carotid Splaying by a Cervical Vagal Neurofibroma and the Role of Neuroradiology in Surgical Management. ( 29147633 )
2017
27
Large Solitary Neurofibroma of Face in a Paediatric Patient. ( 28764304 )
2017
28
Solitary retroperitoneal neurofibroma: not as small as it seems. ( 29162789 )
2017
29
Oddities Sporadic Neurofibroma of the Urinary Bladder. A Case Report. ( 28736721 )
2017
30
Isolated cranio-orbitofacial neurofibroma mimicking vascular malformation. ( 28820281 )
2017
31
Multiple Plexiform Neurofibroma of the Hand Misdiagnosed as Ganglion Cyst. ( 28442864 )
2017
32
Giant scalp plexiform neurofibroma associated with NF-1. ( 28928977 )
2017
33
Differential Diagnosis Between Nasal Septal Schwannoma and Nasal Septal Neurofibroma. ( 28834833 )
2017
34
Trigeminal neurofibroma in the infratemporal fossa arising from the inferior alveolar nerve: A case report. ( 29181172 )
2017
35
Plexiform Neurofibroma Overlying Giant CafAc-au-lait Macule. ( 28405569 )
2017
36
BCRP expression in schwannoma, plexiform neurofibroma and MPNST. ( 29179472 )
2017
37
Plexiform Neurofibroma Involving the Lacrimal Gland. ( 28203199 )
2017
38
Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report. ( 28851321 )
2017
39
Solitary Neurofibroma of Gingiva - An Immunohistochemical Interpretation Using S-100. ( 29132495 )
2017
40
Spinal Cord Compression in a Horse due to a Granular Cell Variant of Neurofibroma. ( 29169628 )
2017
41
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. ( 28068329 )
2017
42
Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1. ( 28891076 )
2017
43
Schwannoma and neurofibroma of the posterior tibial nerve presenting as tarsal tunnel syndrome: review of the literature with two case reports. ( 28624667 )
2017
44
An Exceptional Case of Intraparotid Plexiform Neurofibroma Originating from Autonomic Fibers of the Auriculotemporal Nerve. ( 28634493 )
2017
45
A case report of giant esophageal neurofibroma. ( 29221337 )
2017
46
A case of eruptive neurofibroma in a woman with neurofibromatosis during treatment with methotrexate. ( 27978608 )
2017
47
Granular cell tumor at an unusual site masquerading as a neurofibroma. ( 28879925 )
2017
48
Surgical management of recurrent neurofibroma of infratemporal region: A case report with 20-year follow-up. ( 29256472 )
2017
49
Gastrointestinal bleeding caused by neurofibroma of the ileum. ( 28666606 )
2017
50
Successful treatment by negative-pressure wound therapy for ulcer located on diffuse plexiform neurofibroma. ( 28734012 )
2017
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Variations for Neurofibroma

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ClinVar genetic disease variations for Neurofibroma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh37 Chromosome 17, 29548950: 29548950
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Expression for Neurofibroma

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Search GEO for disease gene expression data for Neurofibroma.
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Pathways for Neurofibroma

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Pathways related to Neurofibroma according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 60
Show member pathways
 13.44 CDKN2A CTNNA3 KIT KITLG MUC1 NF1
2
Cytokine Signaling in Immune system 62
Show member pathways
 13.02 F13A1 KIT KITLG MUC1 NF1 PDGFRA
3
Endometrial cancer 36
Show member pathways
 12.68 CDKN2A CTNNA3 KIT MITF NF1 PDGFRA
4
MAPK signaling pathway 36 1
12.49 KIT KITLG NF1 PDGFRA
5
Ras signaling pathway 36
Show member pathways
 12.44 KIT KITLG NF1 PDGFRA
6
Pathways in cancer 36
12.36 CDKN2A CTNNA3 KIT KITLG MITF PDGFRA
7
Neuroscience 4
12.24 NF1 NF2 S100B SYP
8
Kit receptor signaling pathway 1
Show member pathways
 11.89 KIT KITLG MITF
9
Tyrosine Kinases / Adaptors 4
11.82 KIT KITLG PDGFRA
10
Glioblastoma Multiforme 60
11.6 CDKN2A NF1 NF2 PDGFRA
11
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 61
11.15 PDGFRA S100B SOX10 SYP
12
Regulation of KIT signaling 62
10.66 KIT KITLG
13
Melanocyte Development and Pigmentation 60
10.54 KIT KITLG MITF SOX10
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GO Terms for Neurofibroma

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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 CTNNA3 F13A1 KIT KITLG MUC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.83 CDKN2A KIT MITF SOX10
2 positive regulation of protein kinase B signaling GO:0051897 9.75 KIT KITLG PDGFRA
3 negative regulation of protein kinase activity GO:0006469 9.67 CDKN2A NF1 NF2
4 MAPK cascade GO:0000165 9.67 KIT KITLG NF1 PDGFRA
5 phosphatidylinositol phosphorylation GO:0046854 9.63 KIT KITLG PDGFRA
6 neural crest cell migration GO:0001755 9.58 KITLG SOX10
7 negative regulation of MAPK cascade GO:0043409 9.57 NF1 NF2
8 peripheral nervous system development GO:0007422 9.56 NF1 SOX10
9 regulation of cell proliferation GO:0042127 9.56 KIT MITF NF1 NF2
10 regulation of neuronal synaptic plasticity GO:0048168 9.55 S100B SYP
11 regulation of long-term neuronal synaptic plasticity GO:0048169 9.54 NF1 SYP
12 embryonic hemopoiesis GO:0035162 9.51 KIT KITLG
13 positive regulation of myelination GO:0031643 9.48 S100B SOX10
14 somatic stem cell division GO:0048103 9.43 CDKN2A KIT
15 positive regulation of phospholipase C activity GO:0010863 9.4 KIT PDGFRA
16 pigmentation GO:0043473 9.33 KIT MITF NF1
17 ectopic germ cell programmed cell death GO:0035234 9.32 KIT KITLG
18 melanocyte differentiation GO:0030318 9.13 KIT MITF SOX10
19 negative regulation of cell-matrix adhesion GO:0001953 8.8 CDKN2A NF1 NF2

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 KIT KITLG PDGFRA
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.8 KIT KITLG PDGFRA
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Sources for Neurofibroma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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