NF1
MCID: NRF002
MIFTS: 71

Neurofibromatosis (NF1) malady

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

Aliases & Classifications for Neurofibromatosis

Aliases & Descriptions for Neurofibromatosis:

Name: Neurofibromatosis 12 50 51 52 41 14
Neurofibromatosis 1 12 23 24 25 42 69
Neurofibromatosis Type Ii 71 23 50 24 25
Neurofibromatosis Type 1 12 50 25 52 14
Neurofibromatosis 2 23 24 25 42 69
Bilateral Acoustic Neurofibromatosis 23 50 24 25
Von Recklinghausen Disease 23 50 24 25
Central Neurofibromatosis 12 23 24 25
Nf1 23 50 24 25
Nf2 23 50 24 25
Peripheral Neurofibromatosis 12 24 25
Neurofibromatosis Type 2 12 50 25
Von Recklinghausen's Neurofibromatosis 23 24
Neurofibromatosis Type Iv 12 29
Neurofibromatoses 42 69
Banf 24 25
Vestibular Schwannoma Neurofibromatosis 24
Neurofibromatosis, Type 4, of Riccardi 42
Type Iv Neurofibromatosis of Riccardi 12
Recklinghausen's Neurofibromatosis 12
Acoustic Schwannomas, Bilateral 24
Schwannoma, Acoustic, Bilateral 25
Acoustic Schwannomas Bilateral 50
Neurofibromatosis Central Type 50
Recklinghausen Disease, Nerve 25
Acoustic Neurinoma Bilateral 50
Von Recklinghausen's Disease 51
Acoustic Neurofibromatosis 12
Familial Acoustic Neuromas 25
Von Reklinghausen Disease 12
Familial Acoustic Neuroma 69
Neurofibromatosis Type 4 12
Neurofibromatosis Type I 71
Recklinghausen's Disease 50
Type 1 Neurofibromatosis 50
Nf 1 24
Nf 2 24

Characteristics:

GeneReviews:

23
neurofibromatosis:
Inheritance autosomal dominant inheritance heterogeneous


GeneReviews:

23
Penetrance Penetrance is virtually complete after childhood...
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime...

Classifications:



Summaries for Neurofibromatosis

NINDS : 51 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 neurofibromatosis 1, is related to neurofibromatosis-noonan syndrome and watson syndrome, and has symptoms including ataxia, headache and seizures. An important gene associated with Neurofibromatosis is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Developmental Biology and Cytokine Signaling in Immune system. The drugs Dopamine and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are Decreased viability and homeostasis/metabolism

Genetics Home Reference : 25 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.

NIH Rare Diseases : 50 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. last updated: 2/16/2017

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

Wikipedia : 71 Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The... more...

GeneReviews: NBK1201 NBK1109

Related Diseases for Neurofibromatosis

Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type 1 Neurofibromatosis, Type 2

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

(show top 50) (show all 504)
id Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 32.7 KIT MLH1 MSH2 MSH6 NF1 PMS2
2 watson syndrome 32.1 NF1 NF2
3 mismatch repair cancer syndrome 31.4 MLH1 MSH2 MSH6 PMS2
4 paraganglioma and gastric stromal sarcoma 31.1 SDHB SDHD
5 gastrointestinal stromal tumor 30.0 KIT NF1 PDGFRA SDHB SDHD
6 aneurysm 29.7 NF1 RET SDHB VHL
7 pheochromocytoma 29.6 NF1 RET SDHB SDHD VHL
8 nephrolithiasis 29.0 HRAS NF1 PTPN11 SPRED1
9 hidradenoma 28.9 MLH1 MSH2 MSH6 PMS2
10 zollinger-ellison syndrome 28.6 NF1 RET SDHB SDHD VHL
11 neurofibromatosis, type 2 12.4
12 neurofibromatosis, type 1 12.4
13 neurofibromatosis, familial spinal 12.1
14 legius syndrome 12.0
15 schwannomatosis 11.9
16 chromosome 17q11.2 deletion syndrome, 1.4-mb 11.6
17 hyaline fibromatosis syndrome 11.3
18 malignant peripheral nerve sheath tumor 11.2
19 neurofibroma 11.2
20 neurofibrosarcoma 11.1
21 pilocytic astrocytoma 11.0
22 optic nerve glioma 11.0
23 duodenal carcinoid syndrome 11.0
24 gigantism 11.0
25 glioblastoma 11.0
26 moyamoya disease 11.0
27 macroglossia 10.9
28 acoustic neuroma 10.9
29 acromegaly 10.9
30 hemimegalencephaly 10.9
31 insulinoma 10.9
32 spinal meningioma 10.9
33 chiasmal syndrome 10.9
34 soft tissue sarcoma 10.9
35 autosomal dominant café au lait spots 10.9
36 noonan syndrome 1 10.9
37 megalencephaly 10.8
38 cafe-au-lait spots, multiple 10.7
39 chromosome 17q11.2 deletion syndrome 10.7
40 leukemia, acute myelomonocytic, somatic, somatic 10.6
41 hemihyperplasia, isolated 10.6
42 granular cell tumor 10.6
43 adrenal carcinoma 10.6
44 pediatric ependymoma 10.6
45 spinal cancer 10.6
46 childhood brain stem glioma 10.6
47 benign schwannoma 10.6
48 brain and spinal tumors 10.6
49 pleural cancer 10.3 NF1 NF2 SPRED1
50 jejunal somatostatinoma 10.3 KIT NF1 NF2

Comorbidity relations with Neurofibromatosis via Phenotypic Disease Network (PDN):


Acute Cystitis Neurofibromatosis, Type 1

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to Neurofibromatosis

Symptoms & Phenotypes for Neurofibromatosis

Human phenotypes related to Neurofibromatosis:

32 (show top 50) (show all 60)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 headache 32 HP:0002315
3 seizures 32 HP:0001250
4 joint stiffness 32 HP:0001387
5 macule 32 HP:0012733
6 macrocephaly 32 HP:0000256
7 genu valgum 32 HP:0002857
8 hydrocephalus 32 HP:0000238
9 hypertension 32 HP:0000822
10 precocious puberty 32 HP:0000826
11 neurological speech impairment 32 HP:0002167
12 scoliosis 32 HP:0002650
13 kyphosis 32 HP:0002808
14 hearing impairment 32 HP:0000365
15 cataract 32 HP:0000518
16 skeletal dysplasia 32 HP:0002652
17 corneal opacity 32 HP:0007957
18 visual impairment 32 HP:0000505
19 short stature 32 HP:0004322
20 abnormality of retinal pigmentation 32 HP:0007703
21 delayed puberty 32 HP:0000823
22 intellectual disability, mild 32 HP:0001256
23 subcutaneous nodule 32 HP:0001482
24 abnormal electroretinogram 32 HP:0000512
25 abnormality of the hip bone 32 HP:0003272
26 cryptorchidism 32 HP:0000028
27 attention deficit hyperactivity disorder 32 HP:0007018
28 melanocytic nevus 32 HP:0000995
29 multiple lipomas 32 HP:0001012
30 hypopigmented skin patches 32 HP:0001053
31 memory impairment 32 HP:0002354
32 paresthesia 32 HP:0003401
33 heterochromia iridis 32 HP:0001100
34 abnormality of the upper urinary tract 32 HP:0010935
35 abnormal hair quantity 32 HP:0011362
36 myopia 32 HP:0000545
37 chorioretinal coloboma 32 HP:0000567
38 abnormality of the eyelid 32 HP:0000492
39 glaucoma 32 HP:0000501
40 pheochromocytoma 32 HP:0002666
41 multiple cafe-au-lait spots 32 HP:0007565
42 specific learning disability 32 HP:0001328
43 genu varum 32 HP:0002970
44 recurrent fractures 32 HP:0002757
45 arterial stenosis 32 HP:0100545
46 proptosis 32 HP:0000520
47 astrocytoma 32 HP:0009592
48 meningioma 32 HP:0002858
49 abnormality of the respiratory system 32 HP:0002086
50 generalized hyperpigmentation 32 HP:0007440

UMLS symptoms related to Neurofibromatosis:


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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.51 HRAS
2 Decreased viability GR00173-A 10.51 PDGFRA
3 Decreased viability GR00221-A-1 10.51 RET SDHD VHL NF1 PDGFRA HRAS
4 Decreased viability GR00221-A-2 10.51 RET SDHD VHL HRAS NF1
5 Decreased viability GR00221-A-3 10.51 HRAS PDGFRA
6 Decreased viability GR00221-A-4 10.51 RET SDHD NF1 PDGFRA RASA2
7 Decreased viability GR00231-A 10.51 RET
8 Decreased viability GR00301-A 10.51 RET VHL KIT MSH2
9 Decreased viability GR00381-A-1 10.51 SDHD
10 Decreased sensitivity to paclitaxel GR00112-A-0 9.16 NF1 VHL
11 Increased cell migration GR00055-A-3 8.92 HRAS NF1 NF2 RDX

MGI Mouse Phenotypes related to Neurofibromatosis:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 MLH1 MSH2 MSH6 NF1 NF2 OMG
2 cellular MP:0005384 10.35 RASA1 RET SDHD VHL KIT MLH1
3 mortality/aging MP:0010768 10.33 APOBEC1 HRAS KIT MLH1 MSH2 MSH6
4 cardiovascular system MP:0005385 10.32 NF1 PDGFRA PTPN11 RASA1 RET SDHB
5 endocrine/exocrine gland MP:0005379 10.31 SDHB SDHD VHL HRAS KIT MLH1
6 digestive/alimentary MP:0005381 10.26 NF1 PDGFRA PMS2 PTPN11 RASA1 RET
7 immune system MP:0005387 10.24 RASA1 RET SPRED1 VHL KIT MSH2
8 craniofacial MP:0005382 10.22 HRAS KIT NF1 NF2 PDGFRA PTPN11
9 neoplasm MP:0002006 10.21 NF2 PDGFRA PMS2 PTPN11 RET SDHB
10 embryo MP:0005380 10.2 KIT NF1 NF2 PDGFRA PTPN11 RASA1
11 integument MP:0010771 10.18 KIT MLH1 MSH2 MSH6 NF1 NF2
12 nervous system MP:0003631 10.1 HRAS KIT MSH2 NF1 NF2 PDGFRA
13 limbs/digits/tail MP:0005371 10.06 KIT NF1 PDGFRA PTPN11 RASA1 RET
14 hearing/vestibular/ear MP:0005377 10 KIT NF1 NF2 PTPN11 RASA1 RDX
15 liver/biliary system MP:0005370 9.98 KIT NF1 NF2 PMS2 PTPN11 RDX
16 normal MP:0002873 9.9 APOBEC1 HRAS KIT NF1 OMG PDGFRA
17 no phenotypic analysis MP:0003012 9.86 HRAS KIT OMG PDGFRA PTPN11 RASA1
18 renal/urinary system MP:0005367 9.5 HRAS KIT NF1 NF2 PDGFRA RET
19 respiratory system MP:0005388 9.28 HRAS KIT MLH1 NF1 NF2 PDGFRA

Drugs & Therapeutics for Neurofibromatosis

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

(show top 50) (show all 192)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Sorafenib Approved, Investigational Phase 4,Phase 2,Phase 1 284461-73-0 216239 406563
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
5
Everolimus Approved Phase 4,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
6
Sunitinib Approved, Investigational Phase 4,Phase 2 341031-54-7, 557795-19-4 5329102
7
Palbociclib Approved Phase 4,Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
8
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
9
Dasatinib Approved, Investigational Phase 4,Phase 2 302962-49-8 3062316
10
Crizotinib Approved Phase 4,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
11
Trametinib Approved Phase 4,Phase 2,Phase 1 871700-17-3 11707110
12
Gefitinib Approved, Investigational Phase 4 184475-35-2 123631
13
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
14
Vorinostat Approved, Investigational Phase 4 149647-78-9 5311
15
Olaparib Approved Phase 4 763113-22-0 23725625
16
Ceritinib Approved Phase 4 1032900-25-6
17
Ramucirumab Approved, Investigational Phase 4 947687-13-0
18
Lapatinib Approved March 2007, Investigational Phase 4,Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
19 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Protein Kinase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
21 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22
Erlotinib Hydrochloride Phase 4,Phase 2,Phase 1 183319-69-9 176871
23 Imatinib Mesylate Phase 4,Phase 2,Phase 3,Phase 1 123596
24 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Dopamine Agents Phase 4
27 Dopamine Uptake Inhibitors Phase 4
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Immunosuppressive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
30 Antifungal Agents Phase 4,Phase 2,Phase 1,Early Phase 1
31 Central Nervous System Stimulants Phase 4
32 Poly(ADP-ribose) Polymerase Inhibitors Phase 4
33
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
34
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
35
Mechlorethamine Approved Phase 3,Phase 2 51-75-2 4033
36
Tamsulosin Approved, Investigational Phase 3,Phase 1 106133-20-4 129211
37
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
38
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
39
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
40
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
41
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
42 Alkylating Agents Phase 3,Phase 2
43 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
44 Isophosphamide mustard Phase 3,Phase 2
45 Antineoplastic Agents, Alkylating Phase 3,Phase 2
46 calcium channel blockers Phase 2, Phase 3,Phase 1
47 Adrenergic Agents Phase 3,Phase 1
48 Adrenergic Antagonists Phase 3,Phase 1
49 Adrenergic alpha-1 Receptor Antagonists Phase 3,Phase 1
50 Adrenergic alpha-Antagonists Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 186)
id Name Status NCT ID Phase
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4
2 Molecular Profiling and Matched Targeted Therapy for Patients With Metastatic Melanoma Not yet recruiting NCT02645149 Phase 4
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 Unknown status NCT00346164 Phase 3
5 Study to Investigate the Efficacy and Safety of GL2702 GLARS-NF1tablet and Harnal-D - Tablet in BPH Patients With LUTS Completed NCT02303769 Phase 3
6 Minocycline in Clinically Isolated Syndromes (CIS) Completed NCT00666887 Phase 3
7 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
8 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3
9 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3
10 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3
11 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2
12 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2
13 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2
14 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2
15 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2
16 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2
17 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2
18 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2
19 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2
20 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2
21 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2
22 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
23 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2
24 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2
25 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
26 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2
27 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2
28 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2
29 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2
30 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
31 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2
32 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
33 MEK162 for Patients With RAS/RAF/MEK Activated Tumors Completed NCT01885195 Phase 2
34 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
35 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2
36 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2
37 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2
38 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2
39 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2
40 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2
41 Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma Recruiting NCT01345136 Phase 2
42 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
43 AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas Recruiting NCT02831257 Phase 2
44 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2
45 A Study of INFUSE Bone Graft (BMP-2) in the Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF1) Recruiting NCT02718131 Phase 2
46 Phase I/II Study of MEK162 for Children With Ras/Raf Pathway Activated Tumors Recruiting NCT02285439 Phase 1, Phase 2
47 Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2
48 A Study of Pembrolizumab in Patients With Malignant Peripheral Nerve Sheath Tumor (MPNST), Not Eligible for Curative Surgery Recruiting NCT02691026 Phase 2
49 Multisession Radiosurgery for Optic Nerve Sheath Meningiomas Recruiting NCT02594709 Phase 2
50 PLX3397 Plus Sirolimus in Unresectable Sarcoma and Malignant Peripheral Nerve Sheath Tumors Recruiting NCT02584647 Phase 1, Phase 2

Search NIH Clinical Center for Neurofibromatosis

Cochrane evidence based reviews: neurofibromatosis 1

Genetic Tests for Neurofibromatosis

Genetic tests related to Neurofibromatosis:

id Genetic test Affiliating Genes
1 Neurofibromatosis Type 4 29

Anatomical Context for Neurofibromatosis

MalaCards organs/tissues related to Neurofibromatosis:

39
Skin, Bone, Brain, Spinal Cord, Eye, Testes, Breast

Publications for Neurofibromatosis

Articles related to Neurofibromatosis:

(show top 50) (show all 1788)
id Title Authors Year
1
A case of eruptive neurofibroma in a woman with neurofibromatosis during treatment with methotrexate. ( 27978608 )
2017
2
Neurofibromatosis type 1 and lichen sclerosus: an uncommon association. ( 27978612 )
2017
3
Development of the pediatric quality of life inventory neurofibromatosis type 1 module items for children, adolescents and young adults: qualitative methods. ( 28078640 )
2017
4
Genetic inhibition of Anaplastic Lymphoma Kinase rescues cognitive impairments in Neurofibromatosis 1 mutant mice. ( 28057529 )
2017
5
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 27856782 )
2017
6
The path forward: 2015 International Children's Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. ( 28436162 )
2017
7
Ruptured extradural vertebral artery aneurysm in a patient with neurofibromatosis type 1. ( 28057401 )
2017
8
Type 1 neurofibromatosis with intracanalicular rib head dislocation. ( 28084292 )
2017
9
Medium throughput biochemical compound screening identifies novel agents for pharmacotherapy of neurofibromatosis type I. ( 28065690 )
2017
10
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGMa8c platform. ( 27838393 )
2017
11
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. ( 28068329 )
2017
12
Unanticipated Compression of the Trachea in a 5-Month-Old Undergoing an MRI for Evaluation of Neurofibromatosis. ( 28036318 )
2017
13
The role of the immune system in neurofibromatosis type 1-associated nervous system tumors. ( 28001089 )
2017
14
Pancreaticoduodenectomy in patients with type 1 Neurofibromatosis: Report of two cases and literature review. ( 27529834 )
2016
15
An autopsy case of superficial siderosis of the central nervous system accompanied by anterior sacral polycystic meningocele in neurofibromatosis type 1. ( 27356733 )
2016
16
Optic Pathway Glioma and Cerebral Focal Abnormal Signal Intensity in Patients with Neurofibromatosis Type 1: Characteristics, Treatment Choices and Follow-up in 134 Affected Individuals and a Brief Review of the Literature. ( 27466519 )
2016
17
Neurofibromatosis type 1-associated extracranial vertebral artery aneurysm complicated by vertebral arteriovenous fistula after rupture: Case report and literature review. ( 27647034 )
2016
18
Peripheral Primitive Neuroectodermal Tumor and Neurofibromatosis Type 1 in an Adolescent Male. ( 26828586 )
2016
19
Growth dynamics of intramedullary spinal tumors in patients with neurofibromatosis type 2. ( 27208873 )
2016
20
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. ( 27284375 )
2016
21
Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1. ( 26732170 )
2016
22
Management of Giant Facial Neurofibroma With Intratumoral Hematoma in Neurofibromatosis Type 1 Patient. ( 27603687 )
2016
23
A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1. ( 27596615 )
2016
24
Mechanism-based modeling of the clinical effects of bevacizumab and everolimus on vestibular schwannomas of patients with neurofibromatosis type 2. ( 27146400 )
2016
25
Exploring the genetic basis for clinical variation in neurofibromatosis type 1. ( 27171602 )
2016
26
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1. ( 26849809 )
2016
27
Hilar biliary neurofibroma without neurofibromatosis: case report with contrast-enhanced ultrasound findings. ( 27443917 )
2016
28
Minimal change nephrotic syndrome showing complete remission after resection of a neurofibroma in a type I neurofibromatosis patient. ( 26951918 )
2016
29
Clinical outcome of neurofibromatosis type 2-related vestibular schwannoma: treatment strategies and challenges. ( 27142681 )
2016
30
Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1. ( 27597922 )
2016
31
Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient. ( 27847582 )
2016
32
Optic pathway glioma volume predicts retinal axon degeneration in neurofibromatosis type 1. ( 27815398 )
2016
33
A combined one-stage surgical approach of orbital tumor debulking, lid reconstruction, and ptosis repair in children with orbitotemporal neurofibromatosis. ( 27913089 )
2016
34
A pale macule and a waxy pink lesion in a child with neurofibromatosis type 1. ( 27606368 )
2016
35
Bilateral internal auditory canal gangliogliomas mimicking neurofibromatosis Type II. ( 27127704 )
2016
36
Unusual choroidal vessels in neurofibromatosis type 1 observed with near-infrared reflectance and spectral domain optical coherence tomography. ( 27543268 )
2016
37
Neurofibroma of the Gallbladder Not Associated with Neurofibromatosis. ( 27984597 )
2016
38
Hearing Restoration in Neurofibromatosis Type II Patients. ( 27189272 )
2016
39
Neurofibromatosis type 1: focal dystonia associated with a malignant peripheral nerve sheath tumour-a video-illustrated case. ( 27797864 )
2016
40
Gender-specific growth dynamics of neurofibromatosis type-2-related tumors of the central nervous system. ( 27590907 )
2016
41
Optic Gliomas in Neurofibromatosis Type 1. ( 27537249 )
2016
42
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. ( 28050470 )
2016
43
Gastric plexiform schwannoma in association with neurofibromatosis type 2. ( 27696205 )
2016
44
Neurofibromatosis Type 1 and Vitiligo, a Rare Association. ( 28031143 )
2016
45
Painting neurofibromatosis type 1 in the 15th century. ( 27647642 )
2016
46
Segmental neurofibromatosis with deep schwannoma. ( 27990385 )
2016
47
Neurofibromatosis type 1 (NF1) gene: Beyond cafAc au lait spots and dermal neurofibromas. ( 27622733 )
2016
48
CafAc-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature. ( 27212418 )
2016
49
NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1. ( 27173220 )
2016
50
A Case of Occipital Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1. ( 27628604 )
2016

Variations for Neurofibromatosis

ClinVar genetic disease variations for Neurofibromatosis:

6 (show top 50) (show all 272)
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NF1, ALU INS insertion Pathogenic
2 NF1 NF1, 5-BP DEL deletion Pathogenic
3 NF1 NM_001042492.2(NF1): c.5858T> C (p.Leu1953Pro) single nucleotide variant Pathogenic rs199474792 GRCh37 Chromosome 17, 29661901: 29661901
4 NF1 NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter) single nucleotide variant Pathogenic rs267606595 GRCh37 Chromosome 17, 29661951: 29661951
5 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
6 NF1 NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs) duplication Pathogenic rs267606596 GRCh37 Chromosome 17, 29654759: 29654759
7 NF1 NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs) insertion Pathogenic rs267606597 GRCh37 Chromosome 17, 29654776: 29654777
8 NF1 NM_000267.3(NF1): c.6427C> A (p.Leu2143Met) single nucleotide variant Pathogenic rs137854551 GRCh37 Chromosome 17, 29664448: 29664448
9 NF1 NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn) single nucleotide variant Pathogenic rs267606598 GRCh37 Chromosome 17, 29664532: 29664532
10 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
11 NF1 NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter) single nucleotide variant Pathogenic rs137854560 GRCh37 Chromosome 17, 29576111: 29576111
12 NF1 NM_000267.3(NF1): c.3113+1G> A single nucleotide variant Pathogenic rs267606599 GRCh37 Chromosome 17, 29557401: 29557401
13 NF1 NM_001042492.2(NF1): c.1541_1542delAG (p.Gln514Argfs) deletion Pathogenic rs267606600 GRCh37 Chromosome 17, 29546036: 29546037
14 NF1 NM_000267.3(NF1): c.3104T> G (p.Met1035Arg) single nucleotide variant Pathogenic rs137854553 GRCh37 Chromosome 17, 29557391: 29557391
15 NF1 NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser) single nucleotide variant Pathogenic rs137854554 GRCh37 Chromosome 17, 29585424: 29585424
16 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
17 NF1 NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
18 NF1 NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys) single nucleotide variant Pathogenic rs137854557 GRCh37 Chromosome 17, 29541542: 29541542
19 NF1 NM_000267.3(NF1): c.1523T> C (p.Leu508Pro) single nucleotide variant Pathogenic rs137854558 GRCh37 Chromosome 17, 29541599: 29541599
20 NF1 NM_000267.3(NF1): c.1260+1G> A single nucleotide variant Pathogenic rs267606603 GRCh37 Chromosome 17, 29528504: 29528504
21 NF1 NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter) single nucleotide variant Pathogenic rs137854559 GRCh37 Chromosome 17, 29576048: 29576048
22 NF1 NM_000267.3(NF1): c.5944-5A> G single nucleotide variant Pathogenic rs267606604 GRCh37 Chromosome 17, 29663346: 29663346
23 NF1 NF1, DEL deletion Pathogenic
24 NF1 NM_001042492.2(NF1): c.3721C> T (p.Arg1241Ter) single nucleotide variant Pathogenic rs137854562 GRCh37 Chromosome 17, 29562641: 29562641
25 NF1 NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs) duplication Pathogenic rs267606605 GRCh37 Chromosome 17, 29654717: 29654717
26 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
27 NF1 NF1, 1-BP DEL, 3775T deletion Pathogenic
28 NF1 NM_000267.3(NF1): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs137854563 GRCh37 Chromosome 17, 29528062: 29528062
29 NF1 NF1, 1-BP DEL, 4071C deletion Pathogenic
30 NF1 NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro) single nucleotide variant Pathogenic rs137854564 GRCh37 Chromosome 17, 29562648: 29562648
31 NF1 NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter) single nucleotide variant Pathogenic rs137854565 GRCh37 Chromosome 17, 29657477: 29657477
32 NF1 NM_000267.3(NF1): c.2531T> G (p.Leu844Arg) single nucleotide variant Pathogenic rs137854566 GRCh37 Chromosome 17, 29556164: 29556164
33 NF1 NF1, IVS27DS, G-C, +1 single nucleotide variant Pathogenic
34 NF2 NM_000268.3(NF2): c.1079T> C (p.Leu360Pro) single nucleotide variant Pathogenic rs74315492 GRCh37 Chromosome 22, 30067894: 30067894
35 NF2 NM_000268.3(NF2): c.240+1G> T single nucleotide variant Pathogenic rs587776562 GRCh37 Chromosome 22, 30032866: 30032866
36 NF2 NM_000268.3(NF2): c.1604T> C (p.Leu535Pro) single nucleotide variant Pathogenic rs74315493 GRCh37 Chromosome 22, 30077457: 30077457
37 NF2 NM_000268.3(NF2): c.1613A> C (p.Gln538Pro) single nucleotide variant Pathogenic rs74315494 GRCh37 Chromosome 22, 30077466: 30077466
38 NF2 NM_000268.3(NF2): c.286_288delTTC (p.Phe96del) deletion Pathogenic rs121434260 GRCh37 Chromosome 22, 30035124: 30035126
39 NF2 NM_000268.3(NF2): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs74315495 GRCh37 Chromosome 22, 30051610: 30051610
40 NF2 NM_000268.3(NF2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs74315496 GRCh37 Chromosome 22, 30057302: 30057302
41 NF2 NM_000268.3(NF2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs74315497 GRCh37 Chromosome 22, 30064394: 30064394
42 NF2 NM_000268.3(NF2): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs74315499 GRCh37 Chromosome 22, 30067836: 30067836
43 NF2 NM_000268.3(NF2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs74315501 GRCh37 Chromosome 22, 30069354: 30069354
44 NF2 NM_000268.3(NF2): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs74315503 GRCh37 Chromosome 22, 30070871: 30070871
45 NF2 NM_000268.3(NF2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs74315504 GRCh37 Chromosome 22, 30070880: 30070880
46 NF2 NM_000268.3(NF2): c.1579G> T (p.Glu527Ter) single nucleotide variant Pathogenic rs74315505 GRCh37 Chromosome 22, 30077432: 30077432
47 NF2 NM_000268.3(NF2): c.185T> C (p.Phe62Ser) single nucleotide variant Pathogenic rs121434261 GRCh37 Chromosome 22, 30032810: 30032810
48 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
49 NF1 NM_000267.3(NF1): c.574C> T (p.Arg192Ter) single nucleotide variant Pathogenic rs397514641 GRCh37 Chromosome 17, 29497003: 29497003
50 NF1 NM_000267.3(NF1): c.1595T> C (p.Leu532Pro) single nucleotide variant Pathogenic rs199474737 GRCh37 Chromosome 17, 29546090: 29546090

Copy number variations for Neurofibromatosis from CNVD:

7 (show top 50) (show all 70)
id CNVD ID Chromosom 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 duplicatio n Neurofibromatosis
4 108858 17 23200000 28800000 Deletion or duplicat ion NF1 Neurofibromatosis
5 108865 17 23200000 28800000 Microdeletion AK3P1b Neurofibromatosis type 1
6 108866 17 23200000 28800000 Microdeletion ATAD5 Neurofibromatosis type 1
7 108868 17 23200000 28800000 Microdeletion C17orf42 Neurofibromatosis type 1
8 108869 17 23200000 28800000 Microdeletion C17orf79 Neurofibromatosis type 1
9 108870 17 23200000 28800000 Microdeletion CENTA2 Neurofibromatosis type 1
10 108871 17 23200000 28800000 Microdeletion CRLF3 Neurofibromatosis type 1
11 108872 17 23200000 28800000 Microdeletion DPRXP4 Neurofibromatosis type 1
12 108873 17 23200000 28800000 Microdeletion EVI2A Neurofibromatosis type 1
13 108874 17 23200000 28800000 Microdeletion EVI2B Neurofibromatosis type 1
14 108875 17 23200000 28800000 Microdeletion LOC646013 Neurofibromatosis type 1
15 108876 17 23200000 28800000 Microdeletion LOC646021 Neurofibromatosis type 1
16 108877 17 23200000 28800000 Microdeletion LOC646037 Neurofibromatosis type 1
17 108878 17 23200000 28800000 Microdeletion LRRC37B Neurofibromatosis type 1
18 108879 17 23200000 28800000 Microdeletion LRRC37B2 Neurofibromatosis type 1
19 108880 17 23200000 28800000 Microdeletion MIRN193A Neurofibromatosis type 1
20 108881 17 23200000 28800000 Microdeletion MIRN365-2 Neurofibromatosis type 1
21 108882 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
22 108883 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
23 108884 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
24 108885 17 23200000 28800000 Microdeletion NF1 Neurofibromatosis type 1
25 108886 17 23200000 28800000 Microdeletion OMG Neurofibromatosis type 1
26 108887 17 23200000 28800000 Microdeletion RAB11FIP4 Neurofibromatosis type 1
27 108888 17 23200000 28800000 Microdeletion RNF135 Neurofibromatosis type 1
28 108889 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
29 108890 17 23200000 28800000 Microdeletion SUZ12 Neurofibromatosis type 1
30 108891 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
31 108892 17 23200000 28800000 Microdeletion SUZ12P Neurofibromatosis type 1
32 108893 17 23200000 28800000 Microdeletion UTP6 Neurofibromatosis type 1
33 108894 17 23200000 28800000 Microdeletion or mic roduplication NF1 Neurofibromatosis type 1
34 109393 17 25800000 31800000 Deletion Neurofibromatosis
35 109395 17 25800000 31800000 Deletion NF1 Neurofibromatosis type 1
36 109408 17 25800000 31800000 Copy number NF1 Neurofibromatosis type 1
37 109504 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
38 109505 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
39 109506 17 26446120 26728821 Microdeletion NF1 Neurofibromatosis type 1
40 109522 17 26576214 26734130 Deletion EVI2A Neurofibromatosis type 1
41 109523 17 26576214 26734130 Deletion EVI2B Neurofibromatosis type 1
42 109524 17 26576214 26734130 Deletion NF1 Neurofibromatosis type 1
43 109525 17 26576214 26734130 Deletion OMG Neurofibromatosis type 1
44 109526 17 26576214 26734130 Deletion RAB11FIP4 Neurofibromatosis type 1
45 109530 17 26611486 26611711 Deletion Neurofibromatosis
46 109531 17 26612781 26613078 Deletion Neurofibromatosis
47 109532 17 26614112 26614421 Deletion Neurofibromatosis
48 109533 17 26616287 26616583 Deletion Neurofibromatosis
49 109534 17 26642254 28641850 Deletion Neurofibromatosis
50 109539 17 26646606 26646625 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:

(show all 33)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 HRAS KIT NF1 PDGFRA PTPN11 RASA1
2
Show member pathways
13.2 HRAS KIT NF1 PDGFRA PTPN11 RASA1
3
Show member pathways
12.87 HRAS MLH1 MSH2 MSH6 PDGFRA RASA1
4 12.65 HRAS NF1 PDGFRA RASA1 RASA2
5
Show member pathways
12.52 HRAS MSH2 PDGFRA PTPN11 RASA1
6
Show member pathways
12.44 HRAS KIT NF1 PDGFRA PTPN11 RASA1
7 12.37 HRAS KIT PDGFRA RET
8
Show member pathways
12.34 HRAS NF1 PTPN11 RASA1
9
Show member pathways
12.33 HRAS KIT PDGFRA PTPN11
10
Show member pathways
12.23 HRAS NF1 RASA1 RASA2
11
Show member pathways
12.23 HRAS KIT MLH1 MSH2 MSH6
12
Show member pathways
12.11 HRAS KIT PTPN11 SPRED1
13
Show member pathways
12.06 HRAS PDGFRA PTPN11 RASA1
14 12.02 KIT PDGFRA RET SPRED1
15
Show member pathways
11.99 HRAS NF1 RASA1 RASA2
16
Show member pathways
11.96 HRAS PTPN11 RASA1 SPRED1
17 11.86 HRAS NF1 NF2 PDGFRA
18
Show member pathways
11.84 HRAS NF1 RASA1 RASA2 SPRED1
19
Show member pathways
11.82 HRAS PTPN11 RASA1
20 11.82 HRAS KIT MLH1 MSH2 MSH6 PDGFRA
21
Show member pathways
11.79 MLH1 MSH2 MSH6 PMS2
22
Show member pathways
11.73 HRAS KIT RET
23
Show member pathways
11.72 HRAS PTPN11 RASA1 VHL
24 11.67 MLH1 MSH2 MSH6
25
Show member pathways
11.57 NF1 RASA1 RASA2
26 11.53 HRAS PTPN11 RASA1
27 11.52 HRAS KIT PDGFRA RET
28 11.46 HRAS NF1 RET
29 11.39 HRAS PTPN11 RASA1
30 11.3 HRAS RASA1 RET
31 11.22 HRAS NF1 RASA1
32 11.04 HRAS PTPN11 RASA1 RET
33 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Neurofibromatosis

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

id Name GO ID Score Top Affiliating Genes
1 ruffle GO:0001726 9.54 NF2 RASA1 RDX
2 MutLalpha complex GO:0032389 9.32 MLH1 PMS2
3 mismatch repair complex GO:0032300 9.26 MSH2 PMS2
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.16 SDHB SDHD
5 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
6 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 8.8 NF1 RASA1 RASA2

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.98 HRAS KIT NF1 PDGFRA RASA1 RASA2
2 regulation of cell proliferation GO:0042127 9.88 APOBEC1 KIT NF1 NF2
3 positive regulation of cell migration GO:0030335 9.8 HRAS KIT PDGFRA RDX RET
4 ephrin receptor signaling pathway GO:0048013 9.77 HRAS PTPN11 RASA1
5 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.77 KIT PDGFRA PTPN11
6 regulation of GTPase activity GO:0043087 9.76 NF1 RASA1 RASA2 RDX
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 MLH1 MSH2 MSH6
8 negative regulation of Ras protein signal transduction GO:0046580 9.67 NF1 RASA1 RASA2
9 cellular response to thyroid hormone stimulus GO:0097067 9.62 KIT RDX
10 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.61 NF1 RET
11 determination of adult lifespan GO:0008340 9.61 MSH2 MSH6
12 positive regulation of isotype switching to IgG isotypes GO:0048304 9.58 MLH1 MSH2
13 positive regulation of phospholipase C activity GO:0010863 9.57 KIT PDGFRA
14 negative regulation of DNA recombination GO:0045910 9.56 MSH2 MSH6
15 mismatch repair GO:0006298 9.56 MLH1 MSH2 MSH6 PMS2
16 positive regulation of helicase activity GO:0051096 9.55 MSH2 MSH6
17 maintenance of DNA repeat elements GO:0043570 9.54 MSH2 MSH6
18 negative regulation of cell-matrix adhesion GO:0001953 9.54 NF1 NF2 RASA1
19 positive regulation of isotype switching to IgA isotypes GO:0048298 9.52 MLH1 MSH2
20 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
21 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.48 MLH1 MSH2
22 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
23 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
24 MAPK cascade GO:0000165 9.23 HRAS KIT NF1 PDGFRA RASA1 RASA2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.8 MLH1 MSH2 MSH6 PMS2
2 single-stranded DNA binding GO:0003697 9.71 MLH1 MSH2 PMS2
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.65 KIT PDGFRA PTPN11
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.63 KIT PDGFRA RET
5 oxidized purine DNA binding GO:0032357 9.51 MSH2 MSH6
6 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6
7 ubiquinone binding GO:0048039 9.4 SDHB SDHD
8 MutSalpha complex binding GO:0032407 9.37 MLH1 PMS2
9 single guanine insertion binding GO:0032142 9.32 MSH2 MSH6
10 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.26 SDHB SDHD
11 single thymine insertion binding GO:0032143 9.16 MSH2 MSH6
12 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
13 mismatched DNA binding GO:0030983 8.92 MLH1 MSH2 MSH6 PMS2
14 protein binding GO:0005515 10.45 APOBEC1 HRAS KIT MLH1 MSH2 MSH6

Sources for Neurofibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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