MCID: NRF002
MIFTS: 56

Neurofibromatosis

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neurofibromatosis

MalaCards integrated aliases for Neurofibromatosis:

Name: Neurofibromatosis 12 74 52 53 29 54 42 15 39 17 32
Recklinghausen's Neurofibromatosis 12
Peripheral Neurofibromatosis 12
Acoustic Neurofibromatosis 12
Central Neurofibromatosis 12
Von Reklinghausen Disease 12
Neurofibromatoses 43

Classifications:



External Ids:

Disease Ontology 12 DOID:8712
ICD9CM 34 237.7
MeSH 43 D017253
NCIt 49 C6727
SNOMED-CT 67 81669005
ICD10 32 Q85.0 Q85.00
UMLS 71 C0162678

Summaries for Neurofibromatosis

NINDS : 53 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 recklinghausen's neurofibromatosis, is related to neurofibromatosis, type ii and neurofibromatosis-noonan syndrome. An important gene associated with Neurofibromatosis is NF1 (Neurofibromin 1), and among its related pathways/superpathways are TCR Signaling (Qiagen) and Endometrial cancer. The drugs Methylphenidate and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and skin, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 52 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. It often starts in the teen years. Schwannomatosis causes schwannomas , pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy , and/or medicines.

MedlinePlus : 42 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

Wikipedia : 74 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 1396)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type ii 35.1 SDHD NF2 NF1
2 neurofibromatosis-noonan syndrome 35.1 SPRED1 NF1 LOC111811965
3 neurofibromatosis, familial spinal 35.0 NF1 LOC111811965
4 legius syndrome 34.4 SPRED1 NF1 MSH6 MSH2
5 neurilemmomatosis 34.2 SPRED1 RASA1 NF2 NF1
6 chromosome 17q11.2 deletion syndrome 33.4 RNF135 NF1 EVI2B EVI2A CRLF3
7 mismatch repair cancer syndrome 33.1 PMS2 MSH6 MSH2 MLH1
8 spinal meningioma 33.0 NF2 NF1
9 neurilemmoma 32.9 PDGFRA NF2 NF1
10 neurofibroma 32.9 RASA2 PDGFRA NF2 NF1
11 optic nerve glioma 32.7 RASA2 NF2 NF1
12 neurofibromatosis, type i 32.5 SDHD SDHB RET RASA2 RASA1 PMS2
13 noonan syndrome with multiple lentigines 32.3 SPRED1 RASA2 RASA1 NF1
14 gastrointestinal stromal tumor 32.3 SDHD SDHB PDGFRA NF2 NF1
15 neuroendocrine tumor 32.2 SDHD SDHB RET NF1
16 paraganglioma and gastric stromal sarcoma 31.9 SDHD SDHB RET PDGFRA NF1
17 hereditary paraganglioma-pheochromocytoma syndromes 31.8 SDHD SDHB RET NF1
18 plexiform neurofibroma 31.6 SPRED1 PDGFRA NF2 NF1
19 plexiform schwannoma 30.9 NF2 NF1
20 neuroma 30.9 RET NF2 NF1 MSH2
21 benign ependymoma 30.9 PDGFRA NF2 NF1
22 meningioma, familial 30.9 SPRED1 RET RASA1 NF2 NF1
23 rare tumor 30.7 RET NF2
24 optic nerve sheath meningioma 30.7 NF2 NF1
25 peripheral nerve schwannoma 30.6 NF2 NF1
26 adenoma 30.5 RET MSH6 MSH2 MLH1
27 neural crest tumor 30.5 SDHD SDHB
28 cerebellopontine angle tumor 30.4 SDHD NF2
29 paraganglioma 30.4 SDHD SDHB RET NF1
30 sturge-weber syndrome 30.3 RASA1 NF2 NF1
31 cellular schwannoma 30.3 NF2 NF1
32 von hippel-lindau syndrome 30.3 SDHD SDHB RET NF1
33 lynch syndrome 30.2 PMS2 NF1 MSH6 MSH2 MLH1
34 juvenile polyposis syndrome 30.1 PMS2 MSH6 MSH2 MLH1
35 costello syndrome 30.1 SPRED1 PDGFRA NF1
36 juvenile myelomonocytic leukemia 30.1 SPRED1 RASA2 RASA1 PDGFRA NF1
37 skin benign neoplasm 30.1 NF1 MSH6 MSH2 MLH1
38 bilateral breast cancer 30.1 SDHB MSH6 MLH1
39 colorectal cancer, hereditary nonpolyposis, type 5 30.0 PMS2 MSH6 MSH2 MLH1
40 duodenum adenocarcinoma 30.0 PMS2 MSH6 MSH2 MLH1
41 dysplastic nevus syndrome 30.0 PMS2 MSH6 MSH2 MLH1
42 colorectal cancer, hereditary nonpolyposis, type 4 30.0 PMS2 MLH1
43 ascending colon cancer 30.0 MSH2 MLH1
44 familial adenomatous polyposis 29.9 PMS2 MSH6 MSH2 MLH1
45 li-fraumeni syndrome 29.9 PMS2 NF1 MSH6 MSH2 MLH1
46 carney triad 29.9 SDHD SDHB PDGFRA
47 brain cancer 29.8 PMS2 PDGFRA NF2 NF1 MSH6 MSH2
48 colorectal cancer, hereditary nonpolyposis, type 6 29.8 PMS2 MSH6 MSH2 MLH1
49 small intestine adenocarcinoma 29.8 PMS2 MSH6 MSH2 MLH1
50 pheochromocytoma-paraganglioma 29.8 SDHD SDHB RET

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to Neurofibromatosis

Symptoms & Phenotypes for Neurofibromatosis

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.74 PDGFRA
2 Decreased viability GR00221-A-1 9.74 NF1 PDGFRA RET SDHD
3 Decreased viability GR00221-A-2 9.74 NF1 RET SDHD
4 Decreased viability GR00221-A-3 9.74 PDGFRA RASA1
5 Decreased viability GR00221-A-4 9.74 NF1 PDGFRA RASA1 RASA2 RET SDHD
6 Decreased viability GR00249-S 9.74 NF1 PDGFRA SDHD
7 Decreased viability GR00301-A 9.74 RET
8 Decreased viability GR00381-A-1 9.74 RASA1 SDHD
9 Decreased viability GR00386-A-1 9.74 NF1 RASA1
10 Decreased viability GR00402-S-2 9.74 PDGFRA RET

MGI Mouse Phenotypes related to Neurofibromatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 CRLF3 MLH1 MSH2 MSH6 NF1 PDGFRA
2 digestive/alimentary MP:0005381 9.97 MLH1 MSH2 NF1 PDGFRA PMS2 RASA1
3 endocrine/exocrine gland MP:0005379 9.97 EVI2B MLH1 NF1 NF2 PDGFRA PMS2
4 homeostasis/metabolism MP:0005376 9.97 APOBEC1 CRLF3 MLH1 MSH2 MSH6 NF1
5 immune system MP:0005387 9.7 CRLF3 MLH1 MSH2 MSH6 NF1 NF2
6 neoplasm MP:0002006 9.32 MLH1 MSH2 MSH6 NF1 NF2 PDGFRA

Drugs & Therapeutics for Neurofibromatosis

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

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8
Doxazosin Approved Phase 4 74191-85-8 3157
9
Phenoxybenzamine Approved Phase 4 59-96-1 4768
10 Analgesics, Non-Narcotic Phase 4
11 Analgesics Phase 4
12 Platelet Aggregation Inhibitors Phase 4
13 Sodium Channel Blockers Phase 4
14 Diuretics, Potassium Sparing Phase 4
15 Dopamine Agents Phase 4
16 Neurotransmitter Agents Phase 4
17 Pharmaceutical Solutions Phase 4
18 Adrenergic alpha-Agonists Phase 4
19 Anesthetics Phase 4
20 Hypnotics and Sedatives Phase 4
21 Adrenergic Agents Phase 4
22 Cholinergic Agents Phase 4
23 Anesthetics, General Phase 4
24 Anti-Arrhythmia Agents Phase 4
25 Adrenergic Agonists Phase 4
26 Muscarinic Antagonists Phase 4
27 Cholinergic Antagonists Phase 4
28 Anesthetics, Inhalation Phase 4
29 Anesthetics, Intravenous Phase 4
30
Glycopyrrolate Phase 4 596-51-0 3494
31 Anesthetics, Local Phase 4
32 Adrenergic alpha-Antagonists Phase 4
33 Antihypertensive Agents Phase 4
34 Adrenergic Antagonists Phase 4
35 Vasodilator Agents Phase 4
36 Adrenergic alpha-1 Receptor Antagonists Phase 4
37
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
38
Thioguanine Approved Phase 3 154-42-7 2723601
39
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
40
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
41
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
42
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
43
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
44 Antimetabolites Phase 3
45 Alkylating Agents Phase 3
46 Tubulin Modulators Phase 3
47 Antimitotic Agents Phase 3
48 Protein Kinase Inhibitors Phase 2, Phase 3
49 Imatinib Mesylate Phase 2, Phase 3 220127-57-1 123596
50 Chlorhexidine gluconate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 205)
# 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 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
4 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
5 First Clinical Study of Erbium-YAG Laser Vaporisation of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
6 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
7 Chemotherapy for Progressive Low Grade Astrocytoma in Children Less Than Ten Years Old Completed NCT00002944 Phase 3 carboplatin;lomustine;procarbazine hydrochloride;thioguanine;vincristine sulfate
8 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;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
9 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;Selumetinib Sulfate;Vincristine;Vincristine Sulfate
10 A Phase III Study Comparing Two Carboplatin Containing Regimens for Children and Young Adults With Previously Untreated Low Grade Glioma Recruiting NCT02455245 Phase 3 Carboplatin;Vincristine
11 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Active, not recruiting NCT02471339 Phase 3
12 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
13 An Open-label Multicenter Phase II Study of Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3 imatinib mesylate
14 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Unknown status NCT02934256 Phase 2 Icotinib
15 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)
16 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
17 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
18 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
19 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
20 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
21 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
22 Phase II Clinical Trial of Pirfenidone for the Treatment of Patients With Neurofibromatosis Type I Completed NCT00754780 Phase 2 Pirfenidone
23 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
24 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1- CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
25 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
26 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
27 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
28 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Completed NCT00853580 Phase 2 Lovastatin ™
29 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
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 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
32 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
33 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
34 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
35 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
36 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
37 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
38 Phase II Trial of STI571 (NSC 716051) in Patients With Recurrent Meningioma Completed NCT00045734 Phase 2 imatinib mesylate
39 A Phase I/II Trial of Ganetespib in Combination With the mTOR Inhibitor Sirolimus for Patients With Recurrent or Refractory Sarcomas Including Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors Completed NCT02008877 Phase 1, Phase 2 ganetespib;Sirolimus
40 Phase II Trial of Cetuximab in Patients With Metastatic and/or Locally Advanced Soft Tissue and Bony Sarcomas Completed NCT00148109 Phase 2 Cetuximab;Cetuximab
41 A Phase II Study of RAD001 (Everolimus) for Children With NeurF1 and Chemotherapy-Refractory Radiographic Progressive Low Grade Gliomas Completed NCT01158651 Phase 2 RAD001 (Everolimus)
42 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
43 A Phase II Trial of Mutation-Targeted Therapy With Sunitinib or Everolimus in Patients With Advanced Low-or Intermediate Grade Neuroendocrine Tumors of the Gastrointestinal Tract and Pancreas With or Without Cytoreductive Surgery Completed NCT02315625 Phase 2 Sunitinib;Everolimus
44 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
45 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
46 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Recruiting NCT03688568 Phase 2 Imatinib Mesylate
47 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Recruiting NCT03962543 Phase 2 PD-0325901 oral capsule
48 Immunotherapy Targeting Neurofibromatosis or Schwannomatosis Recruiting NCT04085159 Phase 1, Phase 2
49 Topical Photodynamic Therapy (PDT) With Levulan® Kerastick® for Benign Dermal Neurofibromas Phase II Recruiting NCT02728388 Phase 2 aminolevulinic acid
50 Neurobiology and Treatment of Reading Disability in NF1 Recruiting NCT02964884 Phase 2 Lovastatin;Placebo Oral Tablet

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 29

Anatomical Context for Neurofibromatosis

MalaCards organs/tissues related to Neurofibromatosis:

40
Bone, Brain, Skin, Breast, Spinal Cord, Testes, Lung

Publications for Neurofibromatosis

Articles related to Neurofibromatosis:

(show top 50) (show all 14123)
# Title Authors PMID Year
1
Selumetinib in Children with Inoperable Plexiform Neurofibromas. 61 42
32187457 2020
2
New Frontiers in Therapy of Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Latest Evidence and Clinical Implications. 42 61
32234870 2020
3
A VEGF receptor vaccine demonstrates preliminary efficacy in neurofibromatosis type 2. 42 61
31848332 2019
4
Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 54 61
20305538 2010
5
Hemophagocytosis associated with leukemia: a striking association with juvenile myelomonocytic leukemia. 54 61
19798502 2010
6
Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia. 54 61
20008299 2010
7
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. 54 61
19573811 2009
8
[Neurofibromatosis type 1: more frequent and severe then usually thought]. 54 61
19750304 2009
9
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. 61 54
19366998 2009
10
A synaptic trek to autism. 61 54
19545994 2009
11
[Gastrointestinal stromal tumors in neurofibromatosis type 1]. 54 61
19144598 2009
12
Nf2/Merlin: a coordinator of receptor signalling and intercellular contact. 61 54
17971776 2008
13
Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. 61 54
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. 54 61
17353900 2007
15
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 54 61
17514588 2007
16
[Diagnostic and therapeutic procedures in pheochromocytoma: current trends]. 54 61
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). 61 54
16540233 2007
18
Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. 61 54
17215387 2007
19
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 54 61
17087943 2006
20
The fat cadherin acts through the hippo tumor-suppressor pathway to regulate tissue size. 61 54
16996265 2006
21
Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. 54 61
17053831 2006
22
Characteristics of pheochromocytoma in a 4- to 20-year-old population. 61 54
17102069 2006
23
Contiguous conventional and plexiform schwannomas. Report of two cases. 54 61
16509508 2006
24
Meningioangiomatosis without neurofibromatosis: a clinical analysis. 61 54
16270683 2005
25
The Phosphorylation status of merlin is important for regulating the Ras-ERK pathway. 54 61
16267393 2005
26
Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors. 61 54
16207184 2005
27
Signal therapy of breast cancers by the HDAC inhibitor FK228 that blocks the activation of PAK1 and abrogates the tamoxifen-resistance. 61 54
16082189 2005
28
[Neurofibromatosis type 1 or Von Recklinghausen's disease]. 54 61
15777582 2005
29
Familial segmental neurofibromatosis. 61 54
15224714 2004
30
Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. 61 54
14692188 2003
31
Pheochromocytoma: the expanding genetic differential diagnosis. 61 54
12928344 2003
32
Independent NF1 mutations in two large families with spinal neurofibromatosis. 61 54
12566521 2003
33
Screening for genetic causes of hypertension. 54 61
12419172 2002
34
Protein 4.1 tumor suppressors: getting a FERM grip on growth regulation. 54 61
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. 54 61
12417644 2002
36
The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. 61 54
12191989 2002
37
Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. 61 54
12199909 2002
38
Inhibition of ras-mediated activator protein 1 activity and cell growth by merlin. 54 61
12243339 2002
39
Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. 61 54
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. 54 61
11756780 2002
41
Expanding the role of NHERF, a PDZ-domain containing protein adapter, to growth regulation. 61 54
11607833 2001
42
Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). 61 54
11391665 2001
43
Establishing priorities in neurofibromatosis research: a workshop summary. 54 61
11388764 2001
44
Tumorigenesis in neurofibromatosis: new insights and potential therapies. 54 61
11286939 2001
45
The neurofibromatoses: when less is more. 61 54
11257108 2001
46
[A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension]. 61 54
11129996 2000
47
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. 54 61
10980545 2000
48
Current topics in pheochromocytoma. 54 61
10915008 2000
49
A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. 54 61
10843809 2000
50
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. 61 54
10771486 2000

Variations for Neurofibromatosis

Copy number variations for Neurofibromatosis from CNVD:

7 (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 related to Neurofibromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 RASA1 PDGFRA MSH6 MSH2 MLH1
2
Show member pathways
12.58 RET PDGFRA MSH6 MSH2 MLH1
3 12.53 RET PDGFRA MSH6 MSH2 MLH1
4 11.68 PDGFRA NF2 NF1
5
Show member pathways
11.67 SPRED1 RASA2 RASA1 NF1
6 11.41 MSH6 MSH2 MLH1
7
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
8 11.15 RASA2 RASA1 NF1
9
Show member pathways
11.06 RASA2 RASA1 NF1
10 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for Neurofibromatosis

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

# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex GO:0032389 9.26 PMS2 MLH1
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.16 SDHD SDHB
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of GTPase activity GO:0043087 9.74 RASA2 RASA1 NF1
2 MAPK cascade GO:0000165 9.73 SPRED1 RET RASA2 RASA1 PDGFRA NF1
3 negative regulation of protein kinase activity GO:0006469 9.72 SPRED1 NF2 NF1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 MSH6 MSH2 MLH1
5 negative regulation of MAPK cascade GO:0043409 9.63 SPRED1 NF2 NF1
6 negative regulation of Ras protein signal transduction GO:0046580 9.61 RASA2 RASA1 NF1
7 determination of adult lifespan GO:0008340 9.58 MSH6 MSH2
8 negative regulation of DNA recombination GO:0045910 9.58 MSH6 MSH2
9 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.56 RET NF1
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MSH2 MLH1
11 negative regulation of cell-matrix adhesion GO:0001953 9.54 RASA1 NF2 NF1
12 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
13 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
14 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
15 maintenance of DNA repeat elements GO:0043570 9.48 MSH6 MSH2
16 mismatch repair GO:0006298 9.46 PMS2 MSH6 MSH2 MLH1
17 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
18 somatic recombination of immunoglobulin gene segments GO:0016447 9.13 MSH6 MSH2 MLH1
19 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.76 PMS2 MSH6 MSH2 MLH1
2 single-stranded DNA binding GO:0003697 9.65 PMS2 MSH2 MLH1
3 four-way junction DNA binding GO:0000400 9.49 MSH6 MSH2
4 ubiquinone binding GO:0048039 9.43 SDHD SDHB
5 MutSalpha complex binding GO:0032407 9.4 PMS2 MLH1
6 MutLalpha complex binding GO:0032405 9.37 MSH6 MSH2
7 oxidized purine DNA binding GO:0032357 9.32 MSH6 MSH2
8 single guanine insertion binding GO:0032142 9.26 MSH6 MSH2
9 single thymine insertion binding GO:0032143 9.16 MSH6 MSH2
10 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
11 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Neurofibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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