MCID: NRF007
MIFTS: 65

Neurofibroma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Neurofibroma

MalaCards integrated aliases for Neurofibroma:

Name: Neurofibroma 12 76 53 59 55 44 15 73
Neurofibromas 29 6
Nerve Sheath Tumors 73
Neurofibromatoses 73

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:962
MeSH 44 D009455
NCIt 50 C3272
Orphanet 59 ORPHA252183
UMLS via Orphanet 74 C0027830
UMLS 73 C0027830

Summaries for Neurofibroma

NIH Rare Diseases : 53 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 back pain, headache and 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 Bupivacaine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain, and related phenotypes are periarticular subcutaneous nodules and plexiform neurofibroma

Wikipedia : 76 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 350)
# Related Disease Score Top Affiliating Genes
1 plexiform neurofibroma 34.5 NF1 NF2
2 atypical neurofibroma 32.5 CDKN2A NF1 NF2 SOX10
3 neurofibromatosis, type i 32.2 KIT NF1 PDGFRA
4 neurofibrosarcoma 31.7 NF1 NF2
5 neurofibromatosis, type iv, of riccardi 31.5 KIT NF1 NF2 PDGFRA
6 neuroma 30.6 NF1 NF2 S100B
7 intraneural perineurioma 30.6 MUC1 NF1 S100B SOX10
8 localized hypertrophic neuropathy 30.5 MUC1 S100B
9 monosomy 22 30.4 CTNNA3 NF2
10 myxopapillary ependymoma 30.3 MUC1 S100B
11 perineurioma 30.1 KIT MUC1 S100B
12 hemangiopericytoma, malignant 29.9 F13A1 MUC1 S100B
13 urticaria pigmentosa 29.7 KIT KITLG
14 optic nerve glioma 29.5 MUC1 NF1 S100B SYP
15 ependymoma 29.4 MUC1 NF2 S100B SYP
16 ewing's family of tumors 29.3 CDKN2A KIT KITLG
17 chordoma 29.1 CDKN2A MUC1 PDGFRA S100B
18 malignant peripheral nerve sheath tumor 28.3 CDKN2A KIT MUC1 NF1 NF2 PDGFRA
19 cellular schwannoma 28.3 CDKN2A NF1 NF2 S100B SOX10
20 malignant spindle cell melanoma 28.3 KIT MITF NF1 SOX10
21 gastrointestinal stromal tumor 27.2 CDKN2A KIT KITLG NF1 PDGFRA S100B
22 neurilemmoma 27.2 KIT NF1 NF2 PDGFRA S100B SOX10
23 cellular neurofibroma 12.0
24 neurofibroma of gallbladder 12.0
25 neurofibroma of the heart 12.0
26 neurofibroma of the esophagus 12.0
27 epithelioid neurofibroma 11.9
28 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 11.9
29 mediastinum neurofibroma 11.9
30 neurofibroma of spinal cord 11.8
31 legius syndrome 11.2
32 pacinian tumor 11.2
33 chromosome 17q11.2 deletion syndrome 11.1
34 watson syndrome 11.0
35 neurofibromatosis-noonan syndrome 11.0
36 malignant triton tumor 10.9 NF1 S100B
37 neurofibromatosis, familial spinal 10.9 NF1 NF2
38 malignant glandular tumor of peripheral nerve sheath 10.9 NF1 SYP
39 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.9
40 infantile myofibromatosis 10.9
41 conventional leiomyosarcoma 10.9 CDKN2A NF1
42 primary hepatic neuroendocrine carcinoma 10.9 S100B SYP
43 generalized eruptive histiocytosis 10.9 F13A1 S100B
44 optic nerve sheath meningioma 10.9 CDKN2A NF2
45 hypoganglionosis 10.8 S100B SYP
46 dysembryoplastic neuroepithelial tumor 10.8 S100B SYP
47 immature cataract 10.8 NF1 NF2
48 rosette-forming glioneuronal tumor 10.8 S100B SYP
49 rhabdoid meningioma 10.8 NF2 SYP
50 lentigo maligna melanoma 10.8 MITF S100B

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to Neurofibroma

Symptoms & Phenotypes for Neurofibroma

Human phenotypes related to Neurofibroma:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periarticular subcutaneous nodules 59 32 frequent (33%) Frequent (79-30%) HP:0007470
2 plexiform neurofibroma 59 32 frequent (33%) Frequent (79-30%) HP:0009732
3 enlarged peripheral nerve 59 32 frequent (33%) Frequent (79-30%) HP:0012645
4 subcutaneous neurofibromas 59 32 frequent (33%) Frequent (79-30%) HP:0100698
5 abnormality of the cranial nerves 59 32 occasional (7.5%) Occasional (29-5%) HP:0001291
6 peripheral nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0003406
7 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
8 paraspinal neurofibromas 59 32 occasional (7.5%) Occasional (29-5%) HP:0006751
9 symmetric spinal nerve root neurofibromas 59 32 occasional (7.5%) Occasional (29-5%) HP:0006851
10 macrocephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0000256
11 recurrent otitis media 59 32 very rare (1%) Very rare (<4-1%) HP:0000403
12 intestinal bleeding 59 32 very rare (1%) Very rare (<4-1%) HP:0002584
13 kyphoscoliosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002751
14 multiple intestinal neurofibromatosis 59 32 very rare (1%) Very rare (<4-1%) HP:0005220
15 atypical neurofibromatosis 59 32 very rare (1%) Very rare (<4-1%) HP:0007524
16 palmar neurofibromas 59 32 very rare (1%) Very rare (<4-1%) HP:0007576
17 peripheral schwannoma 59 32 very rare (1%) Very rare (<4-1%) HP:0009593
18 enlargement of parotid gland 59 32 very rare (1%) Very rare (<4-1%) HP:0011801
19 facial neoplasm 59 32 very rare (1%) Very rare (<4-1%) HP:0012289
20 abnormal biliary tract morphology 59 32 very rare (1%) Very rare (<4-1%) HP:0012440
21 spinal meningioma 59 32 very rare (1%) Very rare (<4-1%) HP:0100010
22 neoplasm of the breast 59 32 very rare (1%) Very rare (<4-1%) HP:0100013
23 neoplasia of the pleura 59 32 very rare (1%) Very rare (<4-1%) HP:0100527
24 neoplasm of the trachea 59 32 very rare (1%) Very rare (<4-1%) HP:0100551
25 neurofibromas 59 Obligate (100%)
26 spinal neurofibromas 59 Occasional (29-5%)
27 melanocytic nevus 59 Excluded (0%)
28 skin tags 59 Excluded (0%)

UMLS symptoms related to Neurofibroma:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, 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 GR00173-A 9.53 PDGFRA
2 Decreased viability GR00221-A-1 9.53 CDKN2A KIT NF1 PDGFRA
3 Decreased viability GR00221-A-2 9.53 NF1
4 Decreased viability GR00221-A-3 9.53 CDKN2A PDGFRA
5 Decreased viability GR00221-A-4 9.53 CDKN2A NF1 PDGFRA
6 Decreased viability GR00301-A 9.53 KIT
7 Decreased viability GR00402-S-2 9.53 CDKN2A KIT NF1 PDGFRA

MGI Mouse Phenotypes related to Neurofibroma:

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

Drugs & Therapeutics for Neurofibroma

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

(show top 50) (show all 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
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,Not Applicable
7 Central Nervous System Depressants Phase 4,Phase 1,Not Applicable,Early Phase 1
8 Anesthetics Phase 4,Phase 1,Not Applicable,Early Phase 1
9 Hormone Antagonists Phase 4,Not Applicable
10 Anesthetics, Local Phase 4,Phase 1,Not Applicable,Early Phase 1
11 Hormones Phase 4,Not Applicable
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
15 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1,Not Applicable
16 Central Nervous System Stimulants Phase 4,Not Applicable
17 Gentamicins Phase 4,Not Applicable
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,Not Applicable,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
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
28
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
29
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
30
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Not Applicable 51-75-2 4033
31
Ifosfamide Approved Phase 3,Phase 2,Not Applicable 3778-73-2 3690
32
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
33
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
34
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
35
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
36
Docetaxel Approved, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124
37
Epirubicin Approved Phase 3 56420-45-2 41867
38
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150
39
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
40 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
41 Sodium Channel Blockers Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Diuretics, Potassium Sparing Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
43 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
44 Antiviral Agents Phase 3,Phase 2,Phase 1
45 Antimitotic Agents Phase 3,Phase 2,Phase 1
46 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
47 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
48 Imatinib Mesylate Phase 2, Phase 3,Phase 1 220127-57-1 123596
49
Isophosphamide mustard Phase 3,Phase 2,Not Applicable 0
50 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 253)
# 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 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
4 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
5 Gentamicin Treatment Prior to Schwannoma Surgery - No Residual Function Recruiting NCT02415257 Phase 4 Gentamicin
6 Gentamicin Treatment Prior to Schwannoma Surgery - Residual Function Recruiting NCT02379754 Phase 4 Gentamicins
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 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 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)
14 Cyberknife Radiosurgery for Patients With Neurinomas Recruiting NCT02055859 Phase 3
15 Vestibular Schwannoma - Radiosurgery or Expectation: V-REX. Recruiting NCT02249572 Phase 2, Phase 3
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 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 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 Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
21 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
22 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
23 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
24 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
25 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
26 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
27 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
28 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
29 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
30 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
31 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
32 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
33 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
34 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
35 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
36 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
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 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
40 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
41 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2 Sorafenib and Dacarbazine
42 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
43 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
44 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2 erlotinib hydrochloride
45 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)
46 A 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
47 ALGRX 4975 in the Treatment of Patients With Morton's Neuroma Completed NCT00130962 Phase 2 ALGRX 4975
48 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
49 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
50 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2

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:

41
Bone, Skin, Brain, Tongue, Lung, Kidney, Colon

Publications for Neurofibroma

Articles related to Neurofibroma:

(show top 50) (show all 1601)
# Title Authors Year
1
Malignant peripheral nerve sheath tumor of the trigeminal nerve involving the middle and posterior cranial fossa. ( 29408426 )
2018
2
Malignant peripheral nerve sheath tumor: The need to get it right first time around. ( 29115724 )
2018
3
Erratum: Isolated neurofibroma of the eyelid mimicking recurrent chalazion. ( 29676336 )
2018
4
Volumetric MRI Analysis of Plexiform Neurofibromas in Neurofibromatosis Type 1: Comparison of Two Methods. ( 29097016 )
2018
5
Neurofibroma involving obturator nerve mimicking an adnexal mass: a rare case report and PRISMA-driven systematic review. ( 29426349 )
2018
6
Neurofibroma of the peroneal nerve. ( 29291298 )
2018
7
Malignant peripheral nerve sheath tumor of the scalp: Two rare case reports. ( 29900032 )
2018
8
Neurofibroma not associated with neurofibromatosis. ( 29319284 )
2018
9
Nonoperative Management May Be a Viable Approach to Plexiform Neurofibroma of the Porta Hepatis in Patients with Neurofibromatosis-1. ( 29849532 )
2018
10
Cardiac malignant peripheral nerve sheath tumours arising from atrial neurofibroma as an unusual complication of neurofibromatosis. ( 29399771 )
2018
11
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
12
Case Report: Metastasis of a Trigeminal Malignant Peripheral Nerve Sheath Tumor to the Corpus Callosum. ( 29518229 )
2018
13
Mannose-binding lectin deficiency associated with numerous paraspinal neurofibromas. ( 29162315 )
2018
14
Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis. ( 29596064 )
2018
15
Intraosseous neurofibroma in a 13-year-old male patient: A case report with review of literature. ( 29893349 )
2018
16
Atypical presentation of a primary cardiac malignant peripheral nerve sheath tumor. ( 29318408 )
2018
17
Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome. ( 29970534 )
2018
18
Large Solitary Plexiform Neurofibroma of the Penis Without Erectile Dysfunction: a Case Report from Kerala. ( 29581693 )
2018
19
Targeted next-generation sequencing of malignant peripheral nerve sheath tumor of the pterygopalatine fossa with intracranial metastatic recurrence. ( 29369179 )
2018
20
Solitary eyelid neurofibroma presenting as tarsal cyst: Report of a case and review of literature. ( 29780919 )
2018
21
Case of an Intracranial Malignant Peripheral Nerve Sheath Tumor in the Setting of Pacer-dependent Heart Block. ( 29492148 )
2018
22
The superficial structure of neurofibroma was cleared in Fonsecaea monophora infected skin area. ( 29913286 )
2018
23
Extra-Osseous Ewing Sarcoma of Sciatic Nerve Masquerading as Benign Nerve Sheath Tumor and Presented as Lumbar Radiculopathy: Case Report and Review of Literature. ( 29673820 )
2018
24
Successful surgical treatment of massive spontaneous hemothorax due to intrathoracic secondary degeneration of a neurofibroma from mediastinal involvement of type 1 neurofibromatosis. ( 29707374 )
2018
25
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
26
Clarifying the Distinction Between Malignant Peripheral Nerve Sheath Tumor and Dedifferentiated Liposarcoma: A Critical Reappraisal of the Diagnostic Utility of MDM2 and H3K27me3 Status. ( 29309298 )
2018
27
Neurofibroma of the Nasal Ala: Pediatric Nasal Reconstruction. ( 29420386 )
2018
28
Extensive perineural spread of an intrapelvic sciatic malignant peripheral nerve sheath tumor: a case report. ( 29974241 )
2018
29
Development of 3D culture models of plexiform neurofibroma and initial application for phenotypic characterization and drug screening. ( 29055717 )
2018
30
Plexiform Neurofibroma of the Posterior Tibial Nerve Misdiagnosed as Proximal Tarsal Tunnel Syndrome: A Case Report. ( 29497706 )
2018
31
A brief report of plexiform neurofibroma. ( 29449010 )
2018
32
Low- Grade Malignant Peripheral Nerve Sheath Tumor Mimicking a Schwannoma: The Role and Importance of Trimethylated H3K27M Staining. ( 29909207 )
2018
33
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. ( 29512865 )
2018
34
Biology and Management of Undifferentiated Pleomorphic Sarcoma, Myxofibrosarcoma, and Malignant Peripheral Nerve Sheath Tumors: State of the Art and Perspectives. ( 29220302 )
2018
35
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
36
Distinguishing Neurofibroma From Desmoplastic Melanoma: The Value of p53. ( 29112020 )
2018
37
Retrobulbar malignant peripheral nerve sheath tumor in a golden retriever dog: A challenging diagnosis. ( 29606723 )
2018
38
CASE SERIES: Malignant Peripheral Nerve Sheath Tumor in the Course of the Mandibular Nerve. ( 29883816 )
2018
39
Association of Plexiform Neurofibroma Volume Changes and Development of Clinical Morbidities in Neurofibromatosis 1. ( 29718344 )
2018
40
Trigeminal Nerve Sheath Tumor Presenting as a Cluster Headache. ( 29782034 )
2018
41
Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5. ( 29441226 )
2018
42
Unusual Evolution of Plexiform Neurofibroma in the Scalp: A Case Report. ( 29651404 )
2018
43
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
44
Transoral resection of extensive pediatric supraglottic neurofibroma. ( 29602216 )
2018
45
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
46
Bilateral orbital isolated (solitary) neurofibroma in the absence of neurofibromatosis - A case report. ( 29755279 )
2018
47
Supraclavicular Brachial Plexus Neurolysis for a Malignant Peripheral Nerve Sheath Tumor: A Case Report. ( 29894352 )
2018
48
Correction: Hypoxia-inducible factor 1 alpha is a poor prognostic factor and potential therapeutic target in malignant peripheral nerve sheath tumor. ( 29543881 )
2018
49
Long-Term Results for a One-Stage Surgery Technique for Patients With Craniofacial Plexiform Neurofibroma. ( 29944556 )
2018
50
Tumor expression of survivin, p53, cyclin D1, osteopontin and fibronectin in predicting the response to neo-adjuvant chemotherapy in children with advanced malignant peripheral nerve sheath tumor. ( 29332262 )
2018

Variations for Neurofibroma

ClinVar genetic disease variations for Neurofibroma:

6
(show all 12)
# 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 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh38 Chromosome 17, 31221932: 31221932
4 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh37 Chromosome 17, 29548950: 29548950
5 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh37 Chromosome 17, 29554233: 29554233
6 NF1 NM_001042492.2(NF1): c.2252-3T> G single nucleotide variant Likely pathogenic rs1057518842 GRCh38 Chromosome 17, 31227215: 31227215
7 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 31258405: 31258405
8 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 29585423: 29585423
9 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 29652877: 29652877
10 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 31325859: 31325859
11 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic GRCh37 Chromosome 17, 29664900: 29664900
12 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic GRCh38 Chromosome 17, 31337882: 31337882

Expression for Neurofibroma

Search GEO for disease gene expression data for Neurofibroma.

Pathways for Neurofibroma

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 9.4 CDKN2A CTNNA3 F13A1 KIT KITLG MITF
2 lamellipodium GO:0030027 9.13 CTNNA3 KITLG NF2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.81 CDKN2A KIT MITF SOX10
2 positive regulation of protein kinase B signaling GO:0051897 9.74 KIT KITLG PDGFRA
3 negative regulation of protein kinase activity GO:0006469 9.65 CDKN2A NF1 NF2
4 MAPK cascade GO:0000165 9.62 KIT KITLG NF1 PDGFRA
5 phosphatidylinositol phosphorylation GO:0046854 9.61 KIT KITLG PDGFRA
6 negative regulation of MAPK cascade GO:0043409 9.58 NF1 NF2
7 regulation of long-term neuronal synaptic plasticity GO:0048169 9.56 NF1 SYP
8 regulation of cell proliferation GO:0042127 9.56 KIT MITF NF1 NF2
9 regulation of neuronal synaptic plasticity GO:0048168 9.55 S100B SYP
10 adrenal gland development GO:0030325 9.54 NF1 PDGFRA
11 melanocyte differentiation GO:0030318 9.52 KIT MITF
12 embryonic hemopoiesis GO:0035162 9.49 KIT KITLG
13 positive regulation of myelination GO:0031643 9.46 S100B SOX10
14 somatic stem cell division GO:0048103 9.4 CDKN2A KIT
15 positive regulation of phospholipase C activity GO:0010863 9.37 KIT PDGFRA
16 ectopic germ cell programmed cell death GO:0035234 9.16 KIT KITLG
17 pigmentation GO:0043473 9.13 KIT MITF NF1
18 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

Sources for Neurofibroma

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