MCID: NRF007
MIFTS: 64

Neurofibroma

Categories: Cancer diseases, Neuronal diseases, Rare 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
SNOMED-CT 68 89084002
Orphanet 59 ORPHA252183
UMLS via Orphanet 74 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 seizures, tremor and back pain. An important gene associated with Neurofibroma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Glioma. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and bone, and related phenotypes are macrocephaly and periarticular subcutaneous nodules

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 392)
# Related Disease Score Top Affiliating Genes
1 plexiform neurofibroma 34.0 NF1 NF2
2 atypical neurofibroma 32.9 CD34 CDKN2A NF1 NF2 SOX10
3 neurofibromatosis, type i 32.5 KIT NF1 PDGFRA
4 neurofibromatosis, type iv, of riccardi 32.1 KIT NF1 NF2 PDGFRA
5 malignant peripheral nerve sheath tumor 31.1 CDKN2A KIT MUC1 NF1 NF2 PDGFRA
6 intraneural perineurioma 31.1 CD34 MUC1 NF1 S100B SOX10
7 neurofibrosarcoma 31.0 NF1 NF2
8 perineurioma 30.2 KIT MUC1 S100B
9 cutaneous fibrous histiocytoma 29.9 F13A1 S100B
10 localized hypertrophic neuropathy 29.8 MUC1 S100B
11 myxopapillary ependymoma 29.7 MUC1 S100B
12 hemangiopericytoma, malignant 29.6 F13A1 MUC1 S100B
13 chordoma 29.6 CDKN2A MUC1 PDGFRA S100B
14 optic nerve glioma 29.5 MUC1 NF1 S100B SYP
15 ependymoma 29.5 MUC1 NF2 S100B SYP
16 ewing's family of tumors 29.4 CDKN2A KIT KITLG
17 malignant spindle cell melanoma 29.3 KIT MITF NF1 SOX10
18 neurilemmoma 29.3 KIT NF1 NF2 PDGFRA S100B SOX10
19 cellular schwannoma 29.0 CD34 CDKN2A NF1 NF2 S100B SOX10
20 gastrointestinal stromal tumor 28.9 CD34 CDKN2A KIT KITLG NF1 PDGFRA
21 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 12.4
22 cellular neurofibroma 12.2
23 neurofibroma of gallbladder 12.2
24 neurofibroma of the heart 12.2
25 neurofibroma of the esophagus 12.1
26 epithelioid neurofibroma 12.1
27 mediastinum neurofibroma 12.0
28 neurofibroma of spinal cord 12.0
29 pacinian tumor 11.4
30 legius syndrome 11.3
31 chromosome 17q11.2 deletion syndrome 11.3
32 watson syndrome 11.2
33 neurofibromatosis-noonan syndrome 11.2
34 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.0
35 bladder benign neoplasm 11.0
36 infantile myofibromatosis 11.0
37 immature cataract 10.3 NF1 NF2
38 trigeminal nerve neoplasm 10.3 NF1 NF2
39 neurilemmoma of the fifth cranial nerve 10.3 NF1 NF2
40 amyloid tumor 10.3 NF1 NF2
41 autonomic nervous system benign neoplasm 10.3 NF1 SYP
42 obstructive hydrocephalus 10.3 NF1 SYP
43 pineocytoma 10.3 S100B SYP
44 angiocentric glioma 10.3 S100B SYP
45 glycogen-rich clear cell breast carcinoma 10.3 CDKN2A SYP
46 meningeal melanomatosis 10.3 CDKN2A SYP
47 juvenile xanthogranuloma 10.3 F13A1 S100B
48 anterior cranial fossa meningioma 10.3 NF2 SYP
49 benign ependymoma 10.3 NF2 SYP
50 tanycytic ependymoma 10.3 NF2 SYP

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

UMLS symptoms related to Neurofibroma:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability 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 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.24 CD34 CDKN2A F13A1 KIT KITLG MITF
2 behavior/neurological MP:0005386 10.23 CDKN2A KIT MITF NF1 NF2 PDGFRA
3 endocrine/exocrine gland MP:0005379 10.19 CDKN2A F13A1 KIT KITLG MITF NF1
4 integument MP:0010771 10.16 CD34 CDKN2A KIT KITLG MITF NF1
5 embryo MP:0005380 10.15 CDKN2A KIT KITLG MITF NF1 NF2
6 hematopoietic system MP:0005397 10.11 CD34 CDKN2A F13A1 KIT KITLG MITF
7 immune system MP:0005387 10.08 CD34 CDKN2A KIT KITLG MITF NF1
8 craniofacial MP:0005382 10.04 KIT KITLG MITF NF1 NF2 PDGFRA
9 digestive/alimentary MP:0005381 10.03 CDKN2A KIT KITLG NF1 PDGFRA SOX10
10 nervous system MP:0003631 10.02 CDKN2A KIT KITLG MITF NF1 NF2
11 neoplasm MP:0002006 10.01 CD34 CDKN2A KIT KITLG NF1 NF2
12 hearing/vestibular/ear MP:0005377 9.92 KIT KITLG MITF NF1 NF2
13 limbs/digits/tail MP:0005371 9.91 KIT KITLG MITF NF1 PDGFRA SOX10
14 normal MP:0002873 9.87 KIT MITF NF1 PDGFRA S100B SOX10
15 pigmentation MP:0001186 9.8 CDKN2A KIT KITLG MITF NF1 PDGFRA
16 reproductive system MP:0005389 9.7 CDKN2A F13A1 KIT KITLG MITF NF2
17 respiratory system MP:0005388 9.5 CDKN2A F13A1 KIT NF1 NF2 PDGFRA
18 skeleton MP:0005390 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 193)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
7 Analgesics Phase 4,Phase 2,Phase 1
8 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 1
9 Central Nervous System Stimulants Phase 4,Not Applicable
10 Neurotransmitter Uptake Inhibitors Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Dopamine Agents Phase 4
14 Anesthetics, Intravenous Phase 4
15 Adrenergic Agents Phase 4
16 Central Nervous System Depressants Phase 4,Phase 1
17 Hypnotics and Sedatives Phase 4
18
Glycopyrrolate Phase 4 596-51-0 3494
19 Adrenergic alpha-2 Receptor Agonists Phase 4
20 Adrenergic alpha-Agonists Phase 4
21 Anesthetics Phase 4
22 Adrenergic Agonists Phase 4
23 Anesthetics, General Phase 4
24
Mechlorethamine Approved, Investigational Phase 3,Phase 2 51-75-2 4033
25
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
26
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
27
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
28
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 2713 9552079
29
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
30
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
31 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Early Phase 1
32 Antineoplastic Agents, Alkylating Phase 3,Phase 2
33 Alkylating Agents Phase 3,Phase 2
34 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Early Phase 1
35
Isophosphamide mustard Phase 3,Phase 2 0
36 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
37 Imatinib Mesylate Phase 2, Phase 3,Phase 1 220127-57-1 123596
38 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
39 Excitatory Amino Acids Phase 2, Phase 3
40 Calcium, Dietary Phase 2, Phase 3
41 Diuretics, Potassium Sparing Phase 2, Phase 3
42 Chlorhexidine gluconate Phase 2, Phase 3
43 Excitatory Amino Acid Antagonists Phase 2, Phase 3
44 Sodium Channel Blockers Phase 2, Phase 3
45 Anticonvulsants Phase 2, Phase 3,Phase 1
46 calcium channel blockers Phase 2, Phase 3
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
49
Peginterferon alfa-2b Approved Phase 2,Phase 1 99210-65-8, 215647-85-1
50
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394

Interventional clinical trials:

(show top 50) (show all 195)
# 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 Dexmedetomidine and Propofol for Pediatric MRI Sedation Recruiting NCT03513757 Phase 4 propofol;Dexmedetomidine
3 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
4 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
5 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
6 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
7 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 Suspended NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride
8 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
9 Medical Treatment of "High-Risk" Neurofibromas Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
10 SARC016: Study of Everolimus With Bevacizumab to Treat Refractory Malignant Peripheral Nerve Sheath Tumors Unknown status NCT01661283 Phase 2 everolimus;bevacizumab
11 Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
12 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
13 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
14 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
15 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2 RAD001: Everolimus
16 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
17 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
18 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
19 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
20 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
21 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2 Pirfenidone
22 MEK Inhibitor PD-0325901 Trial in Adolescents and Adults With NF1 Completed NCT02096471 Phase 2 PD-0325901
23 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
24 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
25 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
26 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
27 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
28 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
29 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
30 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
31 SARC023: Ganetespib and Sirolimos in Patients With MPNST (Malignant Peripheral Nerve Sheath Tumors) Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
32 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
33 Alisertib in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01653028 Phase 2 Alisertib
34 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
35 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
36 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2 Sorafenib and Dacarbazine
37 Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
38 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
39 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
40 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2 erlotinib hydrochloride
41 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma Recruiting NCT02839720 Phase 2 Selumetinib
42 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
43 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2 Selumetinib
44 Phase II Study of Binimetinib in Children and Adults With NF1 Plexiform Neurofibromas Recruiting NCT03231306 Phase 2 Binimetinib
45 Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
46 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
47 Treatment of NF1-related Plexiform Neurofibroma With Trametinib Recruiting NCT03741101 Phase 2 Trametinib
48 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
49 Trametinib for Pediatric Neuro-oncology Patients With Refractory Tumor and Activation of the MAPK/ERK Pathway. Recruiting NCT03363217 Phase 1, Phase 2 Trametinib
50 PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2 PLX3397

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
Skin, Spinal Cord, Bone, Breast, Colon, Tongue, Thyroid

Publications for Neurofibroma

Articles related to Neurofibroma:

(show top 50) (show all 1620)
# Title Authors Year
1
Erratum: Isolated neurofibroma of the eyelid mimicking recurrent chalazion. ( 29676336 )
2018
2
Neurofibroma involving obturator nerve mimicking an adnexal mass: a rare case report and PRISMA-driven systematic review. ( 29426349 )
2018
3
Neurofibroma of the peroneal nerve. ( 29291298 )
2018
4
Neurofibroma not associated with neurofibromatosis. ( 29319284 )
2018
5
Nonoperative Management May Be a Viable Approach to Plexiform Neurofibroma of the Porta Hepatis in Patients with Neurofibromatosis-1. ( 29849532 )
2018
6
Cardiac malignant peripheral nerve sheath tumours arising from atrial neurofibroma as an unusual complication of neurofibromatosis. ( 29399771 )
2018
7
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
8
Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis. ( 29596064 )
2018
9
Intraosseous neurofibroma in a 13-year-old male patient: A case report with review of literature. ( 29893349 )
2018
10
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
11
Large Solitary Plexiform Neurofibroma of the Penis Without Erectile Dysfunction: a Case Report from Kerala. ( 29581693 )
2018
12
Solitary eyelid neurofibroma presenting as tarsal cyst: Report of a case and review of literature. ( 29780919 )
2018
13
The superficial structure of neurofibroma was cleared in Fonsecaea monophora infected skin area. ( 29913286 )
2018
14
Successful surgical treatment of massive spontaneous hemothorax due to intrathoracic secondary degeneration of a neurofibroma from mediastinal involvement of type 1 neurofibromatosis. ( 29707374 )
2018
15
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
16
Neurofibroma of the Nasal Ala: Pediatric Nasal Reconstruction. ( 29420386 )
2018
17
Development of 3D culture models of plexiform neurofibroma and initial application for phenotypic characterization and drug screening. ( 29055717 )
2018
18
Plexiform Neurofibroma of the Posterior Tibial Nerve Misdiagnosed as Proximal Tarsal Tunnel Syndrome: A Case Report. ( 29497706 )
2018
19
A brief report of plexiform neurofibroma. ( 29449010 )
2018
20
Biology and Management of Undifferentiated Pleomorphic Sarcoma, Myxofibrosarcoma, and Malignant Peripheral Nerve Sheath Tumors: State of the Art and Perspectives. ( 29220302 )
2018
21
Distinguishing Neurofibroma From Desmoplastic Melanoma: The Value of p53. ( 29112020 )
2018
22
Association of Plexiform Neurofibroma Volume Changes and Development of Clinical Morbidities in Neurofibromatosis 1. ( 29718344 )
2018
23
Plexiform Neurofibroma in the Axilla with Intraosseous Neurofibroma in the Humerus in Neurofibromatosis 5. ( 29441226 )
2018
24
Unusual Evolution of Plexiform Neurofibroma in the Scalp: A Case Report. ( 29651404 )
2018
25
Intrahepatic plexiform neurofibroma with neurofibromatosis type 1. ( 29356283 )
2018
26
Transoral resection of extensive pediatric supraglottic neurofibroma. ( 29602216 )
2018
27
Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells. ( 29893754 )
2018
28
Bilateral orbital isolated (solitary) neurofibroma in the absence of neurofibromatosis - A case report. ( 29755279 )
2018
29
Long-Term Results for a One-Stage Surgery Technique for Patients With Craniofacial Plexiform Neurofibroma. ( 29944556 )
2018
30
Solitary vulvar neurofibroma in a patient without neurofibromatosis. ( 29767492 )
2018
31
Craniovertebral junction cord compression due to neurofibroma. ( 29950503 )
2018
32
A neurofibroma-like tumor in a giant congenital nevus. ( 30277018 )
2018
33
A Phase II Trial of Sorafenib and Dacarbazine for Leiomyosarcoma, Synovial Sarcoma, and Malignant Peripheral Nerve Sheath Tumors. ( 30126857 )
2018
34
Isolated cranio-orbitofacial neurofibroma mimicking vascular malformation. ( 28820281 )
2018
35
Solitary breast neurofibroma: imaging aspects. ( 29456617 )
2018
36
Isolated neurofibroma of the eyelid mimicking recurrent chalazion. ( 29480265 )
2018
37
The Power of Doppler in the Popliteal Fossa: Sonographic Diagnosis of a Fibular Nerve Neurofibroma in a Patient With Posterior Knee Swelling. ( 29557810 )
2018
38
Large penile plexiform neurofibroma in an 11-year old boy. ( 29868161 )
2018
39
Diffuse Neurofibroma in a Patient with Unknown History of NF1. ( 29984027 )
2018
40
Considerations for development of therapies for cutaneous neurofibroma. ( 29987132 )
2018
41
Pigmented (melanotic) diffuse neurofibroma of the back in neurofibromatosis type 1. ( 30112270 )
2018
42
Life-threatening giant esophageal neurofibroma with severe tracheal stenosis: a case report. ( 30178113 )
2018
43
Mesenteric plexiform neurofibroma. ( 30233045 )
2018
44
Rare manifestation of Neurofibromatosis type 1: A plexiform neurofibroma involving the mediastinum and lungs with endobronchial neurofibromata. ( 30238622 )
2018
45
Giant plexiform neurofibroma in neurofibromatosis type 1. ( 30246960 )
2018
46
Neurofibroma discharged from the anus with stool: A case report and review of literature. ( 30294610 )
2018
47
Solitary vallecular neurofibroma presenting with respiratory obstruction: an unusual presentation. ( 30297491 )
2018
48
Immunohistochemical differentiation between spindle cell lipoma and neurofibroma of oral cavity using CD34 and SOX10. ( 30303149 )
2018
49
Neurofibroma of the ulnar nerve in the carpal canal in a dog: treatment by marginal neurectomy. ( 30338846 )
2018
50
Spatiotemporal loss of NF1 in Schwann cell lineage leads to different types of cutaneous neurofibroma susceptible to modification by the Hippo pathway. ( 30348677 )
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 GRCh38 Chromosome 17, 31258405: 31258405
10 NF1 NM_000267.3(NF1): c.4172G> C (p.Arg1391Thr) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 17, 29585423: 29585423
11 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 29652877: 29652877
12 NF1 NM_000267.3(NF1): c.4812C> G (p.Tyr1604Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 31325859: 31325859
13 NF1 NM_000267.3(NF1): c.6641+2delT deletion Pathogenic GRCh37 Chromosome 17, 29664900: 29664900
14 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

Pathways related to Neurofibroma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 F13A1 KIT KITLG MUC1 NF1 PDGFRA
2
Show member pathways
12.53 CDKN2A MITF NF1 PDGFRA
3 12.5 KIT KITLG NF1 PDGFRA
4
Show member pathways
12.47 KIT KITLG NF1 PDGFRA
5 12.38 CDKN2A KIT KITLG MITF PDGFRA
6 12.29 NF1 NF2 S100B SYP
7
Show member pathways
12.03 CDKN2A KIT KITLG MITF
8
Show member pathways
11.93 KIT KITLG MITF
9 11.86 KIT KITLG PDGFRA
10 11.72 CD34 KIT KITLG
11 11.57 CD34 KIT KITLG
12 11.5 CDKN2A NF1 NF2 PDGFRA
13 11.44 CD34 KIT KITLG
14 11.15 PDGFRA S100B SOX10 SYP
15 10.7 KIT KITLG
16 10.54 KIT KITLG MITF SOX10

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 CD34 CDKN2A F13A1 KIT KITLG MUC1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.83 KIT KITLG MITF PDGFRA SOX10
2 positive regulation of protein kinase B signaling GO:0051897 9.76 KIT KITLG PDGFRA
3 negative regulation of cell migration GO:0030336 9.72 MITF NF1 NF2
4 phosphatidylinositol phosphorylation GO:0046854 9.7 KIT KITLG PDGFRA
5 MAPK cascade GO:0000165 9.67 KIT KITLG NF1 PDGFRA
6 positive regulation of gene expression GO:0010628 9.65 CD34 CDKN2A KIT MITF SOX10
7 negative regulation of protein kinase activity GO:0006469 9.63 CDKN2A NF1 NF2
8 regulation of cell proliferation GO:0042127 9.62 KIT MITF NF1 NF2
9 negative regulation of MAPK cascade GO:0043409 9.59 NF1 NF2
10 adrenal gland development GO:0030325 9.58 NF1 PDGFRA
11 regulation of long-term neuronal synaptic plasticity GO:0048169 9.57 NF1 SYP
12 regulation of neuronal synaptic plasticity GO:0048168 9.56 S100B SYP
13 embryonic hemopoiesis GO:0035162 9.54 KIT KITLG
14 positive regulation of myelination GO:0031643 9.51 S100B SOX10
15 positive regulation of phospholipase C activity GO:0010863 9.49 KIT PDGFRA
16 somatic stem cell division GO:0048103 9.48 CDKN2A KIT
17 ectopic germ cell programmed cell death GO:0035234 9.4 KIT KITLG
18 pigmentation GO:0043473 9.33 KIT MITF NF1
19 negative regulation of cell-matrix adhesion GO:0001953 9.13 CDKN2A NF1 NF2
20 melanocyte differentiation GO:0030318 8.8 KIT MITF SOX10

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
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