MCID: NRF002
MIFTS: 63

Neurofibromatosis

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Aliases & Classifications for Neurofibromatosis

MalaCards integrated aliases for Neurofibromatosis:

Name: Neurofibromatosis 11 19 52 75 28 53 5 41 14 38 16 31
Neurofibromatoses 43 33
Recklinghausen's Neurofibromatosis 11
Peripheral Neurofibromatosis 11
Acoustic Neurofibromatosis 11
Central Neurofibromatosis 11
Von Reklinghausen Disease 11
Neurofibromatosis Type 1 14

Classifications:



External Ids:

Disease Ontology 11 DOID:8712
ICD9CM 34 237.7
MeSH 43 D017253
NCIt 49 C6727
SNOMED-CT 68 154642000
ICD10 31 Q85.0
UMLS 71 C0162678

Summaries for Neurofibromatosis

NINDS: 52 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.

MalaCards based summary: Neurofibromatosis, also known as neurofibromatoses, is related to neurofibromatosis-noonan syndrome and acoustic neuroma, and has symptoms including tremor, back pain and headache. An important gene associated with Neurofibromatosis is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Signal Transduction and Disease. The drugs Lidocaine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone, and related phenotypes are Decreased viability and Increased cell migration

MedlinePlus: 41 Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth. Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years. Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke

GARD: 19 Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of Neurofibromatosis that are each associated with unique signs and symptoms Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner.

Wikipedia: 75 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The... more...

Related Diseases for Neurofibromatosis

Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type Ii Neurofibromatosis, Type I

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

(show top 50) (show all 1743)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 33.6 SPRED1 RASA2 PTPN11 NF1 HRAS
2 acoustic neuroma 33.5 SDHD NF2 NF1
3 neurilemmomatosis 33.3 SPRED1 NF2 NF1
4 legius syndrome 33.1 SPRED1 NF1 HRAS
5 chromosome 17q11.2 deletion syndrome 32.8 RNF135 NF1 CRLF3
6 neurofibroma 32.8 SPRED1 RASA2 PDGFRA NF2 NF1
7 neurilemmoma 32.5 PDGFRA NF2 NF1
8 malignant peripheral nerve sheath tumor 32.5 PDGFRA NF2 NF1
9 mismatch repair cancer syndrome 1 32.4 PMS2 MSH6 MSH2 MLH1
10 optic nerve glioma 32.2 SPRED1 NF2 NF1
11 neurofibromatosis, type i 32.2 SPRED1 SDHD SDHB RET RASA2 RASA1
12 pheochromocytoma 32.2 SDHD SDHB RET NF1 HRAS
13 gastrointestinal stromal tumor 32.1 SDHD SDHB RET PDGFRA NF2 NF1
14 noonan syndrome 1 32.0 SPRED1 RASA2 RASA1 PTPN11 NF1 KRAS
15 juvenile myelomonocytic leukemia 31.9 SPRED1 RASA2 PTPN11 PDGFRA NF1 KRAS
16 pilocytic astrocytoma 31.9 PTPN11 PDGFRA NF1 KRAS HRAS
17 adrenal carcinoma 31.9 SDHD SDHB RET NF1
18 paraganglioma and gastric stromal sarcoma 31.8 SDHD SDHB RET PDGFRA NF1
19 meningioma, familial 31.8 SPRED1 RET NF2 NF1 HRAS
20 noonan syndrome with multiple lentigines 31.7 SPRED1 RASA2 RASA1 PTPN11 NF1 KRAS
21 plexiform neurofibroma 31.6 SPRED1 PDGFRA NF2 NF1 HRAS CDKN2B-AS1
22 glioblastoma 31.6 PMS2 PDGFRA NF2 NF1 MSH6 MSH2
23 leukemia, acute myeloid 31.5 PTPN11 PDGFRA NF1 KRAS HRAS CDKN2B-AS1
24 neuroma 31.3 RET NF2 NF1 MSH2
25 bap1 tumor predisposition syndrome 31.3 SDHD SDHB RET PTPN11 PMS2 NF2
26 brain cancer 31.2 PTPN11 PMS2 PDGFRA NF2 NF1 MSH6
27 inherited cancer-predisposing syndrome 31.2 SDHD SDHB RET PTPN11 PMS2 NF2
28 arteriovenous malformation 31.0 RASA2 RASA1 NF1 HRAS
29 spinal cord disease 31.0 PDGFRA NF2 NF1
30 multiple endocrine neoplasia 30.9 SDHD SDHB RET NF1
31 lentigines 30.9 PTPN11 MSH2 MLH1
32 paraganglioma 30.9 SDHD SDHB RET NF1 HRAS
33 plexiform schwannoma 30.9 NF2 NF1
34 glomus tumor 30.8 SDHD SDHB NF1
35 pulsating exophthalmos 30.8 SPRED1 PMS2 NF1 MSH6
36 leukemia, chronic myeloid 30.8 RASA1 PTPN11 PDGFRA NF1 KRAS HRAS
37 multiple endocrine neoplasia, type iia 30.8 SDHD SDHB RET NF1
38 von hippel-lindau syndrome 30.8 SDHD SDHB RET NF1
39 paragangliomas 1 30.7 SDHD SDHB
40 peripheral nervous system disease 30.7 RET NF2 NF1 KRAS HRAS
41 multiple endocrine neoplasia, type i 30.7 SDHD SDHB RET NF1
42 optic nerve sheath meningioma 30.6 NF2 NF1
43 skin benign neoplasm 30.6 NF1 MSH6 MSH2 MLH1 HRAS
44 rhabdomyosarcoma 30.6 RET PTPN11 PMS2 PDGFRA NF1 MSH6
45 neural crest tumor 30.6 SDHD SDHB
46 sturge-weber syndrome 30.6 RASA1 NF2 NF1
47 horner's syndrome 30.6 SDHD SDHB NF1
48 proteus syndrome 30.5 RASA1 NF1 HRAS
49 adenoma 30.5 RET PMS2 MSH6 MSH2 MLH1 KRAS
50 malignant pheochromocytoma 30.5 SDHD SDHB RET NF1

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to Neurofibromatosis

Symptoms & Phenotypes for Neurofibromatosis

UMLS symptoms related to Neurofibromatosis:


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

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

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.6 HRAS KRAS
2 Decreased viability GR00055-A-2 10.6 HRAS KRAS
3 Decreased viability GR00055-A-3 10.6 KRAS
4 Decreased viability GR00106-A-0 10.6 KRAS
5 Decreased viability GR00173-A 10.6 PDGFRA
6 Decreased viability GR00221-A-1 10.6 HRAS KRAS NF1 RET SDHD PDGFRA
7 Decreased viability GR00221-A-2 10.6 HRAS KRAS NF1 RET SDHD
8 Decreased viability GR00221-A-3 10.6 HRAS PDGFRA RASA1
9 Decreased viability GR00221-A-4 10.6 NF1 RET SDHD PDGFRA RASA1 RASA2
10 Decreased viability GR00249-S 10.6 NF1 SDHD PDGFRA
11 Decreased viability GR00301-A 10.6 KRAS RET
12 Decreased viability GR00381-A-1 10.6 KRAS SDHD RASA1
13 Decreased viability GR00386-A-1 10.6 NF1 RASA1
14 Decreased viability GR00402-S-2 10.6 RET PDGFRA
15 Increased cell migration GR00055-A-1 8.62 NF1
16 Increased cell migration GR00055-A-3 8.62 NF1

MGI Mouse Phenotypes related to Neurofibromatosis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 APOBEC1 HRAS KRAS MLH1 MSH2 MSH6
2 neoplasm MP:0002006 10.36 HRAS KRAS MLH1 MSH2 MSH6 NF1
3 endocrine/exocrine gland MP:0005379 10.29 HRAS KRAS MLH1 NF1 NF2 PDGFRA
4 immune system MP:0005387 10.24 CRLF3 KRAS MLH1 MSH2 MSH6 NF1
5 digestive/alimentary MP:0005381 10.23 HRAS KRAS MLH1 MSH2 NF1 NF2
6 normal MP:0002873 10.19 APOBEC1 HRAS KRAS NF1 PDGFRA PTPN11
7 cellular MP:0005384 10.18 KRAS MLH1 MSH2 MSH6 NF1 PDGFRA
8 no phenotypic analysis MP:0003012 10.07 HRAS KRAS PDGFRA PTPN11 RASA1 RET
9 limbs/digits/tail MP:0005371 10.05 KRAS NF1 PDGFRA PTPN11 RASA1 RET
10 craniofacial MP:0005382 10.03 HRAS KRAS NF1 NF2 PDGFRA PTPN11
11 hematopoietic system MP:0005397 10 CRLF3 KRAS MLH1 MSH2 MSH6 NF1
12 respiratory system MP:0005388 9.97 HRAS KRAS MLH1 NF1 NF2 PDGFRA
13 reproductive system MP:0005389 9.96 KRAS MLH1 NF1 NF2 PDGFRA PMS2
14 mortality/aging MP:0010768 9.83 APOBEC1 HRAS KRAS MLH1 MSH2 MSH6
15 integument MP:0010771 9.36 HRAS KRAS MLH1 MSH2 MSH6 NF1

Drugs & Therapeutics for Neurofibromatosis

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

(show top 50) (show all 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
5
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
6
Glycopyrronium Approved, Investigational, Vet_approved Phase 4 596-51-0, 740028-90-4 3494
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
10 Analgesics, Non-Narcotic Phase 4
11 Pharmaceutical Solutions Phase 4
12 Sodium Channel Blockers Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Central Nervous System Stimulants Phase 4
15 Dopamine Uptake Inhibitors Phase 4
16 Dopamine Agents Phase 4
17 Neurotransmitter Agents Phase 4
18 Platelet Aggregation Inhibitors Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Adrenergic Agonists Phase 4
21 Adrenergic Agents Phase 4
22 Anti-Arrhythmia Agents Phase 4
23 Anesthetics, Local Phase 4
24 Anesthetics, Intravenous Phase 4
25 Anesthetics, Inhalation Phase 4
26 Anesthetics, General Phase 4
27 Anesthetics Phase 4
28 Hypnotics and Sedatives Phase 4
29 Muscarinic Antagonists Phase 4
30 Cholinergic Antagonists Phase 4
31 Cholinergic Agents Phase 4
32
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
33
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
34
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
35
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 2, Phase 3 55-56-1 2713 9552079
36
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
37 Antimitotic Agents Phase 3
38 Tubulin Modulators Phase 3
39 Hormones Phase 2, Phase 3
40 Calcium, Dietary Phase 2, Phase 3
41 Antipsychotic Agents Phase 2, Phase 3
42 Psychotropic Drugs Phase 2, Phase 3
43 Anticonvulsants Phase 2, Phase 3
44 calcium channel blockers Phase 2, Phase 3
45 Chlorhexidine gluconate Phase 2, Phase 3
46
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
49
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
50
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908

Interventional clinical trials:

(show top 50) (show all 217)
# Name Status NCT ID Phase Drugs
1 Comportemental and Neuropsychologic Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate. A Double-blind Randomised Study Methylphenidate Versus Placebo Completed NCT00169611 Phase 4 methylphenidate
2 An Observer-blinded Randomized Study of Propofol Infusion vs Bolus Dexmedetomidine and Propofol Sedation for Pediatric Magnetic Resonance Imaging Completed NCT03513757 Phase 4 propofol;Dexmedetomidine;Glycopyrrolate;Lidocaine 1% Injectable Solution;Nitrous Oxide;Sevoflurane
3 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
4 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
5 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
6 A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas Recruiting NCT05130866 Phase 2, Phase 3 REC-2282;Placebo
7 A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG) Recruiting NCT03871257 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
8 A Phase 3 Randomized Non-Inferiority Study of Carboplatin and Vincristine Versus Selumetinib (NSC# 748727) in Newly Diagnosed or Previously Untreated Low-Grade Glioma (LGG) Not Associated With BRAFV600E Mutations or Systemic Neurofibromatosis Type 1 (NF1) Recruiting NCT04166409 Phase 3 Carboplatin;Selumetinib Sulfate;Vincristine Sulfate
9 A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET) Recruiting NCT04924608 Phase 3 Selumetinib
10 The Effect of Lamotrigine on Cognitive Deficits Associated With Neurofibromatosis Type 1: a Phase II Randomized Controlled Multi-centre Trial (NF1-EXCEL) Terminated NCT02256124 Phase 2, Phase 3 Lamotrigine;Placebo
11 A Long-term Study of NPC-12G Gel in Neurofibromatosis Type I Terminated NCT04461886 Phase 3 NPC-12G gel
12 Medical Treatment of "High-Risk" Neurofibromas in Patients With Type 1 Neurofibromatosis: A Clinical Trial of Sequential Medical Therapies Unknown status NCT00846430 Phase 2 Peg-Interferon alpha-2b;Celecoxib (Celebrex);Temozolomide (temodar);Vincristine Sulfate (Oncovin)
13 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
14 Recombinant Human Endostatin Injection Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors by Continuous Intravenous Pumping Completed NCT02104323 Phase 2 Endostatin
15 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
16 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
17 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
18 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
19 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
20 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
21 A Single Arm, Single Center, Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Completed NCT01490476 Phase 2 RAD001
22 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02934256 Phase 2 Icotinib
23 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
24 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
25 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
26 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
27 Clinical Assessment of the Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With Neurofibromatosis Type 1 Completed NCT03090971 Phase 2 Diclofenac Sodium;Saline Solution
28 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
29 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
30 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
31 Phase 2 Study of the mTOR Inhibitor Everolimus in Combination With Bevacizumab in Patients With Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors Completed NCT01661283 Phase 2 everolimus;bevacizumab
32 Phase II Trial of Chemotherapy in Sporadic and Neurofibromatosis Type 1 Associated High Grade Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2 doxorubicin hydrochloride;etoposide;ifosfamide
33 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
34 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
35 A Phase 2 Trial of the MEK Inhibitor PD-0325901 in Adolescents and Adults With NF1-Associated Morbid Plexiform Neurofibromas Completed NCT02096471 Phase 2 PD-0325901
36 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
37 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
38 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
39 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2a Study to Determine Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Activity of NFX-179 Gel in Subjects With Cutaneous Neurofibromas Completed NCT04435665 Phase 2 NFX-179 Gel;Vehicle Gel
40 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
41 An Open-Label, Dose-Escalation, Phase I/II Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics and Clinical Activity of the MEK Inhibitor Trametinib in Children and Adolescents Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Children and Adolescents With Cancers Harboring V600 Mutations Completed NCT02124772 Phase 1, Phase 2 Trametinib;Dabrafenib
42 Phase Ib Clinical Trial to Evaluate the Safety and Efficacy of AL2846 Capsules in Chinese Patients With Type I Neurofibromatosis (Neurofibromatosis and Malignant Peripheral Nerve Sheath Tumors) Recruiting NCT05011019 Phase 1, Phase 2 AL2846 capsules
43 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib
44 Doxycycline Injection of Cutaneous Schwannoma in Neurofibromatosis Type 2 Recruiting NCT05521048 Phase 1, Phase 2 Doxycycline Injection [Doxy]
45 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
46 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
47 A Phase I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas Recruiting NCT04750928 Phase 1, Phase 2 Abemaciclib
48 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
49 Antioxidant Therapy With N-acetylcysteine for Motor Behavior and/or Learning in Children With Neurofibromatosis Type 1 Recruiting NCT04481048 Phase 2 N-Acetyl cysteine
50 A Phase I/II, Single-Arm, Open Label Study to Evaluate the Pharmacokinetics, Safety/Tolerability and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With Neurofibromatosis Type 1 (NF1) Related Symptomatic, Inoperable Plexiform Neurofibromas (PN) (SPRINKLE) Recruiting NCT05309668 Phase 1, Phase 2 Selumetinib granule formulation;Selumetinib capsule formulation

Search NIH Clinical Center for Neurofibromatosis

Cochrane evidence based reviews: neurofibromatoses

Genetic Tests for Neurofibromatosis

Genetic tests related to Neurofibromatosis:

# Genetic test Affiliating Genes
1 Neurofibromatosis 28

Anatomical Context for Neurofibromatosis

Organs/tissues related to Neurofibromatosis:

MalaCards : Spinal Cord, Skin, Bone, Brain, Eye, Breast, Endothelial

Publications for Neurofibromatosis

Articles related to Neurofibromatosis:

(show top 50) (show all 15802)
# Title Authors PMID Year
1
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study. 62 41
36064430 2022
2
Management of neurofibromatosis type 2 and schwannomatosis associated peripheral and intraspinal schwannomas: influence of surgery, genetics, and localization. 62 41
35771312 2022
3
A Systematic Review of Recent and Ongoing Clinical Trials in Patients With the Neurofibromatoses. 62 41
35759947 2022
4
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 53 62
20305538 2010
5
Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. 53 62
19798502 2010
6
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 53 62
20008299 2010
7
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 53 62
19366998 2009
8
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. 53 62
19573811 2009
9
[Neurofibromatosis type 1: more frequent and severe then usually thought]. 53 62
19750304 2009
10
A synaptic trek to autism. 53 62
19545994 2009
11
[Gastrointestinal stromal tumors in neurofibromatosis type 1]. 53 62
19144598 2009
12
Nf2/Merlin: a coordinator of receptor signalling and intercellular contact. 53 62
17971776 2008
13
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. 53 62
18063929 2007
14
Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. 53 62
17353900 2007
15
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 53 62
17514588 2007
16
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 53 62
17578179 2007
17
Signal therapy of human pancreatic cancer and NF1-deficient breast cancer xenograft in mice by a combination of PP1 and GL-2003, anti-PAK1 drugs (Tyr-kinase inhibitors). 53 62
16540233 2007
18
Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. 53 62
17215387 2007
19
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 53 62
17087943 2006
20
The fat cadherin acts through the hippo tumor-suppressor pathway to regulate tissue size. 53 62
16996265 2006
21
Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. 53 62
17053831 2006
22
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 53 62
17102069 2006
23
Contiguous conventional and plexiform schwannomas. Report of two cases. 53 62
16509508 2006
24
Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors. 53 62
16207184 2005
25
The Phosphorylation status of merlin is important for regulating the Ras-ERK pathway. 53 62
16267393 2005
26
Meningioangiomatosis without neurofibromatosis: a clinical analysis. 53 62
16270683 2005
27
Signal therapy of breast cancers by the HDAC inhibitor FK228 that blocks the activation of PAK1 and abrogates the tamoxifen-resistance. 53 62
16082189 2005
28
[Neurofibromatosis type 1 or Von Recklinghausen's disease]. 53 62
15777582 2005
29
Familial segmental neurofibromatosis. 53 62
15224714 2004
30
Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. 53 62
14692188 2003
31
Pheochromocytoma: the expanding genetic differential diagnosis. 53 62
12928344 2003
32
Independent NF1 mutations in two large families with spinal neurofibromatosis. 53 62
12566521 2003
33
Screening for genetic causes of hypertension. 53 62
12419172 2002
34
Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. 53 62
12356905 2002
35
Gene-targeted deletion of neurofibromin enhances the expression of a transient outward K+ current in Schwann cells: a protein kinase A-mediated mechanism. 53 62
12417644 2002
36
The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. 53 62
12191989 2002
37
Inhibition of ras-mediated activator protein 1 activity and cell growth by merlin. 53 62
12243339 2002
38
Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. 53 62
12199909 2002
39
Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. 53 62
11904334 2002
40
Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. 53 62
11756780 2002
41
Expanding the role of NHERF, a PDZ-domain containing protein adapter, to growth regulation. 53 62
11607833 2001
42
Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). 53 62
11391665 2001
43
Establishing priorities in neurofibromatosis research: a workshop summary. 53 62
11388764 2001
44
Tumorigenesis in neurofibromatosis: new insights and potential therapies. 53 62
11286939 2001
45
The neurofibromatoses: when less is more. 53 62
11257108 2001
46
[A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension]. 53 62
11129996 2000
47
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. 53 62
10980545 2000
48
Current topics in pheochromocytoma. 53 62
10915008 2000
49
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. 53 62
10843809 2000
50
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. 53 62
10771486 2000

Variations for Neurofibromatosis

ClinVar genetic disease variations for Neurofibromatosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPRED1 NM_152594.3(SPRED1):c.395dup (p.Asn132fs) DUP Pathogenic
848498 rs1895677481 GRCh37: 15:38616976-38616977
GRCh38: 15:38324775-38324776
2 NF1 NM_001042492.3(NF1):c.2409+1G>T SNV Pathogenic
449423 rs1555614022 GRCh37: 17:29554625-29554625
GRCh38: 17:31227607-31227607

Copy number variations for Neurofibromatosis from CNVD:

6 (show all 26)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 107543 17 15900000 22100000 Microdeletion Neurofibromatosis
2 108747 17 22200000 78774742 Deletion Neurofibromatosis
3 108749 17 22200000 78774742 Deletion duplication Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplication NF1 Neurofibromatosis
5 109393 17 25800000 31800000 Deletion Neurofibromatosis
6 109530 17 26611486 26611711 Deletion Neurofibromatosis
7 109531 17 26612781 26613078 Deletion Neurofibromatosis
8 109532 17 26614112 26614421 Deletion Neurofibromatosis
9 109533 17 26616287 26616583 Deletion Neurofibromatosis
10 109534 17 26642254 28641850 Deletion Neurofibromatosis
11 109539 17 26646606 26646625 Deletion Neurofibromatosis
12 109540 17 26647173 26647192 Deletion Neurofibromatosis
13 109546 17 26673150 26673305 Deletion Neurofibromatosis
14 109547 17 26676955 26677471 Deletion Neurofibromatosis
15 109549 17 26678618 26679028 Deletion Neurofibromatosis
16 109552 17 2668540 26668420 Deletion Neurofibromatosis
17 109553 17 26692292 26692904 Deletion Neurofibromatosis
18 109555 17 26709590 26709800 Deletion Neurofibromatosis
19 109556 17 26711564 26711914 Deletion Neurofibromatosis
20 109557 17 26724945 26725307 Deletion Neurofibromatosis
21 109673 17 28103575 28103640 Deletion SSH2 Neurofibromatosis
22 109703 17 28313925 28314303 Deletion Neurofibromatosis
23 109798 17 29426218 29488638 Deletion Neurofibromatosis
24 109938 17 30596008 30612536 Deletion RHBDL3 Neurofibromatosis
25 110553 17 33218164 33218223 Deletion Neurofibromatosis
26 110831 17 34451207 34819827 Deletion Neurofibromatosis

Expression for Neurofibromatosis

Search GEO for disease gene expression data for Neurofibromatosis.

Pathways for Neurofibromatosis



Pathways directly related to Neurofibromatosis:

# Pathway Source
1 RAS signaling downstream of NF1 loss-of-function variants Reactome 66

Pathways related to Neurofibromatosis according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1 13.71 HRAS KRAS NF1 NF2 PDGFRA PTPN11
2
Show member pathways
13.65 SPRED1 RNF135 PTPN11 PMS2 PDGFRA NF1
3
Show member pathways
13.35 HRAS KRAS MSH6 NF1 NF2 PDGFRA
4
Show member pathways
13.14 SPRED1 RET RASA2 RASA1 PTPN11 PDGFRA
5 12.75 HRAS KRAS PDGFRA PTPN11 RASA1 SPRED1
6
Show member pathways
12.73 RASA1 PDGFRA MSH6 MSH2 MLH1 KRAS
7
Show member pathways
12.55 HRAS KRAS MLH1 MSH2 MSH6 NF1
8
Show member pathways
12.41 PTPN11 PDGFRA KRAS HRAS
9
Show member pathways
12.38 PMS2 MSH6 MSH2 MLH1
10
Show member pathways
12.37 RASA1 PTPN11 KRAS HRAS
11
Show member pathways
12.36 HRAS KRAS PTPN11 RASA1
12
Show member pathways
12.33 HRAS KRAS MSH2 PDGFRA PTPN11 RASA1
13 12.32 RASA2 RASA1 NF1 KRAS HRAS
14
Show member pathways
12.31 RASA1 PTPN11 NF1 KRAS HRAS
15
Show member pathways
12.23 SPRED1 PTPN11 KRAS HRAS
16
Show member pathways
12.17 HRAS KRAS RASA1 RET
17 12.16 MSH6 MSH2 MLH1 KRAS
18
Show member pathways
12.1 SPRED1 NF1 KRAS HRAS
19 12.09 NF1 MSH6 MSH2 KRAS
20
Show member pathways
11.95 SPRED1 RASA1 PTPN11 HRAS
21 11.92 HRAS KRAS NF1 PTPN11
22
Show member pathways
11.9 RASA1 PDGFRA KRAS HRAS
23
Show member pathways
11.86 PTPN11 KRAS HRAS
24
Show member pathways
11.85 PTPN11 KRAS HRAS
25
Show member pathways
11.84 PTPN11 KRAS HRAS
26 11.76 RASA2 RASA1 PTPN11 PDGFRA NF1 KRAS
27
Show member pathways
11.74 RET KRAS HRAS
28
Show member pathways
11.62 RASA1 PDGFRA HRAS
29
Show member pathways
11.62 RET RASA1 PTPN11 HRAS
30
Show member pathways
11.61 NF1 KRAS HRAS
31
Show member pathways
11.54 PDGFRA KRAS HRAS
32
Show member pathways
11.52 RASA2 RASA1 NF1
33
Show member pathways
11.49 RASA1 PTPN11 PDGFRA KRAS HRAS
34 11.45 RASA1 PTPN11 HRAS
35 11.44 PDGFRA KRAS HRAS
36 11.35 RET RASA1 HRAS
37 11.3 RASA1 NF1 HRAS
38 11.02 PMS2 MSH6 MSH2 MLH1
39 10.99 RASA1 KRAS HRAS
40
Show member pathways
10.76 KRAS HRAS
41
Show member pathways
10.76 SDHD SDHB
42
Show member pathways
10.53 RASA2 RASA1 NF1 KRAS HRAS
43
Show member pathways
10.22 PMS2 MLH1

GO Terms for Neurofibromatosis

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.56 SDHD SDHB
2 MutLalpha complex GO:0032389 9.46 PMS2 MLH1
3 MutSalpha complex GO:0032301 9.26 MSH6 MSH2
4 mismatch repair complex GO:0032300 9.02 PMS2 MSH2 MLH1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 10.18 RASA1 MSH2 KRAS HRAS
2 negative regulation of MAPK cascade GO:0043409 10.02 NF1 NF2 SPRED1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.98 MSH6 MSH2 MLH1
4 MAPK cascade GO:0000165 9.96 HRAS KRAS NF1 NF2 RET
5 negative regulation of cell-matrix adhesion GO:0001953 9.91 RASA1 NF2 NF1
6 negative regulation of Schwann cell proliferation GO:0010626 9.89 NF2 NF1
7 negative regulation of Ras protein signal transduction GO:0046580 9.88 RASA2 RASA1 NF1
8 isotype switching GO:0045190 9.88 MSH6 MSH2 MLH1
9 positive regulation of helicase activity GO:0051096 9.87 MSH6 MSH2
10 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.86 SDHD SDHB
11 regulation of MAPK cascade GO:0043408 9.84 SPRED1 PTPN11 NF1
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.83 MSH2 MLH1
13 Schwann cell proliferation GO:0014010 9.8 NF2 NF1
14 regulation of long-term neuronal synaptic plasticity GO:0048169 9.8 NF1 KRAS HRAS
15 forebrain astrocyte development GO:0021897 9.76 KRAS NF1
16 mismatch repair GO:0006298 9.76 PMS2 MSH6 MSH2 MLH1
17 maintenance of DNA repeat elements GO:0043570 9.69 MSH6 MSH2
18 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.54 MSH2 MLH1
19 somatic recombination of immunoglobulin gene segments GO:0016447 9.35 MSH6 MSH2 MLH1
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.23 PMS2 MSH6 MSH2 MLH1

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

# Name GO ID Score Top Affiliating Genes
1 MutSalpha complex binding GO:0032407 9.78 PMS2 MLH1
2 MutLalpha complex binding GO:0032405 9.76 MSH6 MSH2
3 ATP-dependent DNA damage sensor activity GO:0140664 9.76 PMS2 MSH6 MSH2 MLH1
4 oxidized purine DNA binding GO:0032357 9.73 MSH6 MSH2
5 ubiquinone binding GO:0048039 9.71 SDHD SDHB
6 single guanine insertion binding GO:0032142 9.67 MSH6 MSH2
7 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.62 SDHD SDHB
8 single thymine insertion binding GO:0032143 9.56 MSH2 MSH6
9 guanine/thymine mispair binding GO:0032137 9.43 MSH6 MSH2 MLH1
10 mismatched DNA binding GO:0030983 9.1 PMS2 MSH6 MSH2 MLH1

Sources for Neurofibromatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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