MCID: NRF019
MIFTS: 62

Neurofibromatosis, Type 2

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

Aliases & Classifications for Neurofibromatosis, Type 2

MalaCards integrated aliases for Neurofibromatosis, Type 2:

Name: Neurofibromatosis, Type 2 54 29 13
Central Neurofibromatosis 56 71
Neurofibromatosis Type 2 56 52
Neurofibromatosis 2 71 69
Nf2 56 71
Bilateral Acoustic Neurofibromatosis 56

Characteristics:

Orphanet epidemiological data:

56
neurofibromatosis type 2
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Finland); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
incidence of 1 in 25,000 livebirths
nearly 100% penetrance by 60 years of age
approximately half of the mutations are de novo


HPO:

32
neurofibromatosis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis, Type 2

OMIM : 54
The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II. (101000)

MalaCards based summary : Neurofibromatosis, Type 2, also known as central neurofibromatosis, is related to neurofibromatosis, type 1 and spinal meningioma, and has symptoms including visual impairment, ataxia and migraine. An important gene associated with Neurofibromatosis, Type 2 is NF2 (Neurofibromin 2), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Regulation of actin cytoskeleton. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin, and related phenotypes are Decreased cell migration and Increased cell migration

Genetics Home Reference : 25 Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.

UniProtKB/Swiss-Prot : 71 Neurofibromatosis 2: Genetic disorder characterized by bilateral vestibular schwannomas (formerly called acoustic neuromas), schwannomas of other cranial and peripheral nerves, meningiomas, and ependymomas. It is inherited in an autosomal dominant fashion with full penetrance. Affected individuals generally develop symptoms of eighth-nerve dysfunction in early adulthood, including deafness and balance disorder. Although the tumors of NF2 are histologically benign, their anatomic location makes management difficult, and patients suffer great morbidity and mortality.

Related Diseases for Neurofibromatosis, Type 2

Diseases in the Neurofibromatosis, Type 1 family:

Neurofibromatosis, Type 2

Diseases related to Neurofibromatosis, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type 1 11.6
2 spinal meningioma 10.8
3 cauda equina neoplasm 10.3 EPB41L3 NF2
4 pediatric meningioma 10.3 EPB41L3 NF2
5 neurofibromatosis-noonan syndrome 10.2 NF1 NF2
6 pediatric fibrosarcoma 10.2 NF1 NF2
7 demyelinating disease 10.2 NF1 NF2
8 neonatal meningitis 10.2 EZR MSN
9 benign pleural mesothelioma 10.2 NF1 NF2
10 ovarian disease 10.2 NF1 NF2
11 borna disease 10.2 NF1 NF2
12 lung lymphoma 10.2 NF1 NF2
13 diphtheria 10.1 NF1 NF2
14 toxic pneumonitis 10.1 EPB41L3 NF2
15 epidural abscess 10.1 NF1 NF2
16 c-p angle neurinoma 10.1 NF1 NF2
17 vestibular disease 10.1 NF1 NF2
18 peritoneal benign neoplasm 10.1 NF1 NF2
19 kidney hypertrophy 10.0 NF1 NF2
20 vestibular gland benign neoplasm 10.0 NF1 NF2
21 schwannomatosis 10.0
22 postmenopausal atrophic vaginitis 9.9 NF1 NF2
23 ependymoma 9.9
24 tanycytic ependymoma 9.9
25 plexiform schwannoma 9.9
26 peripheral nerve schwannoma 9.9
27 retinitis 9.9
28 lymphoplasmacytic lymphoma 9.9 NF1 NF2
29 bladder urachal squamous cell carcinoma 9.9 NF1 NF2
30 atrial fibrillation, familial, 14 9.8 EZR MSN RDX
31 surfactant metabolism dysfunction, pulmonary, 5 9.8 MSN NF1 NF2
32 glioblastoma 9.8
33 neurofibroma 9.8
34 small cell sarcoma 9.8 NF1 NF2
35 sarcoma 9.7
36 cerebritis 9.7
37 laryngitis 9.7
38 clear cell ependymoma 9.7 EPB41L3 NF1 NF2
39 horner's syndrome 9.6
40 perineurioma 9.6
41 mononeuropathy 9.6
42 foramen magnum meningioma 9.6
43 acoustic neuroma 9.6
44 ganglioneuroma 9.6
45 mn1 9.6
46 pseudopapilledema 9.6
47 ganglioglioma 9.6
48 ring chromosome 22 9.6
49 papilledema 9.6
50 plexiform neurofibroma 9.6

Graphical network of the top 20 diseases related to Neurofibromatosis, Type 2:



Diseases related to Neurofibromatosis, Type 2

Symptoms & Phenotypes for Neurofibromatosis, Type 2

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ataxia
headache

Neurologic- Peripheral Nervous System:
peripheral neuropathy

Skin Nails & Hair- Skin:
schwannoma
occasional cafe-au-lait spots
occasional neurofibroma

Head And Neck- Ears:
hearing loss
tinnitus

Neoplasia:
ependymoma
astrocytoma
meningioma
glioma
vestibular schwannoma (over 90% of patients)
more
Head And Neck- Eyes:
juvenile posterior subcapsular lenticular opacities
juvenile cortical cataract
epiretinal membranes
retinal hamartoma
no lisch nodules


Clinical features from OMIM:

101000

Human phenotypes related to Neurofibromatosis, Type 2:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 ataxia 56 32 very rare (1%) Very frequent (99-80%) HP:0001251
3 migraine 56 32 frequent (33%) Frequent (79-30%) HP:0002076
4 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
5 tinnitus 56 32 very rare (1%) Very frequent (99-80%) HP:0000360
6 vertigo 56 32 hallmark (90%) Very frequent (99-80%) HP:0002321
7 astrocytoma 56 32 very rare (1%) Occasional (29-5%) HP:0009592
8 sensory neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000763
9 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
10 meningioma 56 32 very rare (1%) Occasional (29-5%) HP:0002858
11 gait disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0001288
12 facial palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0010628
13 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
14 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
15 multiple cafe-au-lait spots 56 32 occasional (7.5%) Occasional (29-5%) HP:0007565
16 subcutaneous nodule 56 32 occasional (7.5%) Occasional (29-5%) HP:0001482
17 abnormality of the retinal vasculature 56 32 occasional (7.5%) Occasional (29-5%) HP:0008046
18 dysgraphia 56 32 occasional (7.5%) Occasional (29-5%) HP:0010526
19 pseudoepiphyses of the metacarpals 56 32 occasional (7.5%) Occasional (29-5%) HP:0009193
20 occasional neurofibromas 56 32 occasional (7.5%) Occasional (29-5%) HP:0009595
21 papule 56 32 occasional (7.5%) Occasional (29-5%) HP:0200034
22 headache 32 very rare (1%) HP:0002315
23 peripheral neuropathy 32 HP:0009830
24 ependymoma 32 very rare (1%) HP:0002888
25 hearing impairment 32 very rare (1%) HP:0000365
26 cranial nerve paralysis 56 Occasional (29-5%)
27 juvenile posterior subcapsular lenticular opacities 32 very rare (1%) HP:0007935
28 juvenile cortical cataract 32 very rare (1%) HP:0007876
29 retinal hamartoma 32 very rare (1%) HP:0009594
30 neoplasm of the central nervous system 56 Occasional (29-5%)
31 neoplasm of the skin 56 Frequent (79-30%)
32 benign neoplasm of the central nervous system 56 Occasional (29-5%)
33 peripheral schwannoma 32 very rare (1%) HP:0009593
34 epiretinal membrane 32 HP:0100014
35 cafe-au-lait spot 32 very rare (1%) HP:0000957
36 bilateral vestibular schwannoma 32 very rare (1%) HP:0009589
37 unilateral vestibular schwannoma 32 very rare (1%) HP:0009590

UMLS symptoms related to Neurofibromatosis, Type 2:


ataxia, headache

GenomeRNAi Phenotypes related to Neurofibromatosis, Type 2 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.13 NF1 NF2 RDX
2 Increased cell migration GR00055-A-3 8.8 NF1 NF2 RDX

Drugs & Therapeutics for Neurofibromatosis, Type 2

Drugs for Neurofibromatosis, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2,Early Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2,Early Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2,Early Phase 1 53123-88-9 5284616 6436030 46835353
4
Bevacizumab Approved, Investigational Phase 2 216974-75-3
5
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
6
Palbociclib Approved Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
7
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
8
Adenosine Approved, Investigational Phase 2 58-61-7 60961
9
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
10
Dabrafenib Approved Phase 2 44462760 44516822
11
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
12
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
13
nivolumab Approved Phase 2 946414-94-4
14
Osimertinib Approved Phase 2 1421373-65-0 71496458
15
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
16 Racepinephrine Approved Phase 2
17
Trametinib Approved Phase 2 871700-17-3 11707110
18
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
19
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
20
Lapatinib Approved March 2007, Investigational Phase 2,Early Phase 1 231277-92-2, 388082-78-8 208908 9941095
21
Lactitol Investigational Phase 2 585-86-4 3871
22 Protein Kinase Inhibitors Phase 2,Phase 1,Early Phase 1
23 Anti-Bacterial Agents Phase 2,Early Phase 1
24 Antibiotics, Antitubercular Phase 2,Early Phase 1
25 Antifungal Agents Phase 2,Early Phase 1
26 Anti-Infective Agents Phase 2,Early Phase 1
27 Immunosuppressive Agents Phase 2,Early Phase 1
28 Angiogenesis Inhibitors Phase 2
29 Angiogenesis Modulating Agents Phase 2
30 Endostatins Phase 2 71581480
31 Antibodies Phase 2
32 Antibodies, Monoclonal Phase 2
33 Immunoglobulins Phase 2
34 Cytochrome P-450 CYP3A Inducers Phase 2
35 Ado-trastuzumab emtansine Phase 2
36 Antimitotic Agents Phase 2
37 Antineoplastic Agents, Phytogenic Phase 2
38 Epinephryl borate Phase 2
39 Immunoconjugates Phase 2
40 Maytansine Phase 2
41
s 1 (combination) Phase 2
42 Mitogens Phase 2
43 Imatinib Mesylate Phase 2 123596
44 Analgesics Phase 2
45 Analgesics, Non-Narcotic Phase 2
46 Anti-Inflammatory Agents Phase 2
47 Anti-Inflammatory Agents, Non-Steroidal Phase 2
48 Antipyretics Phase 2
49 Antirheumatic Agents Phase 2
50 Cyclooxygenase Inhibitors Phase 2

Interventional clinical trials:

(show all 48)

id Name Status NCT ID Phase Drugs
1 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
2 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2 RAD001
3 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2 Endostatin
4 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2 Lapatinib
5 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
6 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
7 Everolimus (RAD001) for the Treatment of Malignant Pleural Mesothelioma With Merlin/NF2 Loss as a Biomarker to Predict Sensitivity Completed NCT01024946 Phase 2 everolimus
8 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
9 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
10 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2 Icotinib
11 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2 Axitinib
12 Study of RAD001 for Treatment of NF2-related Vestibular Schwannoma Recruiting NCT01345136 Phase 2 RAD001, everolimus
13 Vismodegib and FAK Inhibitor GSK2256098 in Treating Patients With Progressive Meningiomas Recruiting NCT02523014 Phase 2 vismodegib;GSK2256098
14 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2 Afatinib;Akt inhibitor AZD5363;Binimetinib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib;WEE1 Inhibitor AZD1775
15 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 Selumetinib (AZD6244 hyd sulfate)
16 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2 Imatinib Mesylate
17 Phase 2 Study of Bevacizumab in Children and Young Adults With NF 2 and Progressive Vestibular Schwannomas Active, not recruiting NCT01767792 Phase 2 Bevacizumab
18 AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas Active, not recruiting NCT02831257 Phase 2 AZD2014
19 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Active, not recruiting NCT02352844 Phase 2 Everolimus
20 Bevacizumab in Treating Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 Phase 2
21 Study of Aspirin in Patients With Vestibular Schwannoma Not yet recruiting NCT03079999 Phase 2 Aspirin;Placebo
22 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Not yet recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Afatinib;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
23 PTC299 for Treatment of Neurofibromatosis Type 2 Suspended NCT00911248 Phase 2 PTC299
24 An Implant for Hearing Loss Due to Removal of Neurofibromatosis 2 Tumors Completed NCT00030043 Phase 1
25 Relative Bioavailability Study Completed NCT01602887 Phase 1 PD-0332991;PD-0332991;PD-0332991;PD-0332991
26 A Safety Study of the Auditory Brainstem Implant for Pediatric Profoundly Deaf Patients Recruiting NCT02102256 Phase 1
27 Feasibility Study of Auditory Brainstem Implant in Young Children Withdrawn NCT01850225 Phase 1
28 NF2 Natural History Consortium Unknown status NCT00004483
29 Effect of Implant Position on Magnetic Resonance Image Distortion Unknown status NCT02246231
30 Concentration and Activity of Lapatinib in Vestibular Schwannomas Unknown status NCT00863122 Early Phase 1 lapatinib
31 Using Positron Emission Tomography to Predict Intracranial Tumor Growth in Neurofibromatosis Type II Patients Completed NCT01222728
32 Analysis of NF2 Mutations in Radiation-Related Neural Tumors Completed NCT00340496
33 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF Completed NCT02435628
34 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
35 Genetic Evaluation of NF1 and Scoliosis Patients Completed NCT01776125
36 Resiliency Training for Patients With NF2 Via Videoconferencing With Skype Recruiting NCT02811718
37 Neurofibromatosis (NF) Registry Portal Recruiting NCT01885767
38 Exploratory Evaluation of AR-42 Histone Deacetylase Inhibitor in the Treatment of Vestibular Schwannoma and Meningioma Recruiting NCT02282917 Early Phase 1 AR-42
39 Auditory Midbrain Implant Study Recruiting NCT02984202
40 Auditory Brainstem Implant (ABI) in Children With No Cochleae or Auditory Nerves Recruiting NCT02310399
41 Implantation of an Auditory Brainstem Implant for the Treatment of Incapacitating Unilateral Tinnitus Recruiting NCT02630589
42 Neurofeedback and Working Memory Training for Children and Adolescents With ADHD Recruiting NCT01841151
43 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
44 Natural History Study of Patients With Neurofibromatosis Type 2 Active, not recruiting NCT00598351
45 Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas Active, not recruiting NCT01880749 Early Phase 1 RAD001
46 WES of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data Not yet recruiting NCT03210285
47 Compassionate Use Arm - ABI541 ABI for 10 NF2 Patients No longer available NCT02589912
48 Auditory Brainstem Implantation in Young Children Suspended NCT01904448

Search NIH Clinical Center for Neurofibromatosis, Type 2

Genetic Tests for Neurofibromatosis, Type 2

Genetic tests related to Neurofibromatosis, Type 2:

id Genetic test Affiliating Genes
1 Neurofibromatosis, Type 2 29
2 Neurofibromatosis 2 24 NF2

Anatomical Context for Neurofibromatosis, Type 2

MalaCards organs/tissues related to Neurofibromatosis, Type 2:

39
Brain, Spinal Cord, Skin, Testes, Retina

Publications for Neurofibromatosis, Type 2

Articles related to Neurofibromatosis, Type 2:

(show top 50) (show all 155)
id Title Authors Year
1
Two Cases of Spinal Tanycytic Ependymoma Associated with Neurofibromatosis Type 2. ( 28345553 )
2017
2
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 27856782 )
2017
3
A systematic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas. ( 28882713 )
2017
4
Surgery versus stereotactic radiosurgery for the treatment of multiple meningiomas in neurofibromatosis type 2: illustrative case and systematic review. ( 28900754 )
2017
5
Appendiceal ganglioneuroma in neurofibromatosis type 2. ( 28578246 )
2017
6
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. ( 28696935 )
2017
7
Reduced RAC1 activity inhibits cell proliferation and induces apoptosis in neurofibromatosis type 2(NF2)-associated schwannoma. ( 28934903 )
2017
8
Low-dose bevacizumab induces radiographic regression of vestibular schwannomas in neurofibromatosis type 2: A case report and literature review. ( 27123050 )
2016
9
Erratum: Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. ( 27231815 )
2016
10
YAP mediates tumorigenesis in neurofibromatosis type 2 by promoting cell survival and proliferation through a COX2-EGFR signaling axis. ( 27216189 )
2016
11
Gastric plexiform schwannoma in association with neurofibromatosis type 2. ( 27696205 )
2016
12
Mechanism-based modeling of the clinical effects of bevacizumab and everolimus on vestibular schwannomas of patients with neurofibromatosis type 2. ( 27146400 )
2016
13
Neurofibromatosis type 2 (NF 2) or schwannomatosis? - Case report study and diagnostic criteria. ( 27154453 )
2016
14
Neurofibromatosis Type 2: Presentation, Major Complications, and Management, With a Focus on the Pediatric Age Group. ( 27655473 )
2016
15
Growth dynamics of intramedullary spinal tumors in patients with neurofibromatosis type 2. ( 27208873 )
2016
16
Multifocal granulocytic sarcoma of the spine mimicking neurofibromatosis Type 2: case report. ( 27176110 )
2016
17
Cilioretinal Artery Territory Infarction Associated With Papilledema in a Patient With Neurofibromatosis Type 2. ( 26295608 )
2015
18
Leptomeningeal Angiomatosis in a Case of Neurofibromatosis Type 2: An Unusual Finding. ( 26510155 )
2015
19
Clinical features of spinal schwannomas in 65 patients with schwannomatosis compared with 831 with solitary schwannomas and 102 with neurofibromatosis Type 2: a retrospective study at a single institution. ( 26407091 )
2015
20
Neurofibromatosis type 2. ( 26564072 )
2015
21
Commentary on: 'Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study'. ( 26070489 )
2015
22
Neurofibromatosis type 2 patient presenting with medulloblastoma. ( 26539318 )
2015
23
Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study. ( 26139580 )
2015
24
Primary meningeal melanoma with cerebrospinal fluid dissemination mimicking neurofibromatosis type 2. ( 26200063 )
2015
25
Intractable yawning caused by foramen magnum meningioma in a patient with neurofibromatosis type 2. ( 25751482 )
2015
26
Combined Hamartoma of the Retina and Retinal Pigment Epithelium Leading to the Diagnosis of Neurofibromatosis Type 2. ( 26356002 )
2015
27
Neurosurgery Concepts: Key perspectives on quality of life in children with spina bifida, cilengitide for the treatment of newly diagnosed glioblastoma, surgery and stereotactic radiosurgery in the management of intracranial metastasis, Gamma Knife radiosurgery in patients with Neurofibromatosis Type 2, patient misconceptions on the diagnosis and treatment of lumbar spondylosis. ( 26167362 )
2015
28
Translabyrinthine resection of neurofibromatosis type 2 associated vestibular and facial schwannomas, repair of facial nerve, and placement of auditory brainstem implant. ( 24380525 )
2014
29
Phase II study of everolimus in children and adults with neurofibromatosis type 2 and progressive vestibular schwannomas. ( 24311643 )
2014
30
Co-existence of neurofibromatosis type 2 and multiple sclerosis: A case report. ( 25876477 )
2014
31
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. ( 24414536 )
2014
32
Spinal tanycytic ependymoma associated with neurofibromatosis type 2. ( 24495349 )
2014
33
Ipsilateral cochlear implantation after cochlear nerve preserving vestibular schwannoma surgery in patients with neurofibromatosis type 2. ( 24335931 )
2014
34
Characterization of early onset neurofibromatosis type 2. ( 23414620 )
2014
35
Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes. ( 25549701 )
2014
36
A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma. ( 25406210 )
2014
37
Natural history of vestibular schwannoma growth and hearing decline in newly diagnosed neurofibromatosis type 2 patients. ( 24335938 )
2014
38
A chemical biology approach identified PI3K as a potential therapeutic target for neurofibromatosis type 2. ( 25360213 )
2014
39
Gastrinoma and neurofibromatosis type 2: the first case report and review of the literature. ( 24961548 )
2014
40
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2. ( 24336196 )
2014
41
Outcome of translabyrinthine surgery for vestibular schwannoma in neurofibromatosis type 2. ( 23472624 )
2013
42
Neurofibromatosis type 2 (NF2): diagnosis and management. ( 23931824 )
2013
43
Neurofibromatosis type 2 tumor suppressor protein, NF2, induces proteasome-mediated degradation of JC virus T-antigen in human glioblastoma. ( 23308224 )
2013
44
Therapeutic potential of HSP90 inhibition for neurofibromatosis type 2. ( 23714726 )
2013
45
Genomic analysis of non-neurofibromatosis type 2 meningiomas. ( 23685513 )
2013
46
Neurofibromatosis type 2 protein, NF2: an uncoventional cell cycle regulator. ( 23267122 )
2013
47
Understanding neurofibromatosis type 2. ( 24427892 )
2013
48
Conservative management of bilateral vestibular schwannomas in neurofibromatosis type 2 patients: hearing and tumor growth results. ( 23407292 )
2013
49
LIM domain kinases as potential therapeutic targets for neurofibromatosis type 2. ( 23934191 )
2013
50
Intracranial meningiomas and neurofibromatosis type 2. ( 23558725 )
2013

Variations for Neurofibromatosis, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis, Type 2:

71 (show all 16)
id Symbol AA change Variation ID SNP ID
1 NF2 p.Phe62Ser VAR_000810 rs121434261
2 NF2 p.Glu106Gly VAR_000813
3 NF2 p.Asn220Tyr VAR_000818
4 NF2 p.Thr352Met VAR_000821 rs764441073
5 NF2 p.Leu360Pro VAR_000822 rs74315492
6 NF2 p.Leu535Pro VAR_000825 rs74315493
7 NF2 p.Gln538Pro VAR_000826 rs74315494
8 NF2 p.Leu234Arg VAR_009123
9 NF2 p.Met77Val VAR_043011
10 NF2 p.Leu141Pro VAR_043012
11 NF2 p.Gly197Cys VAR_043013
12 NF2 p.Lys413Glu VAR_043014 rs766974263
13 NF2 p.Lys533Thr VAR_043015
14 NF2 p.Leu539His VAR_043016
15 NF2 p.Lys579Met VAR_043017
16 NF2 p.Cys133Arg VAR_065227

ClinVar genetic disease variations for Neurofibromatosis, Type 2:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 NF2 NM_000268.3(NF2): c.1079T> C (p.Leu360Pro) single nucleotide variant Pathogenic rs74315492 GRCh37 Chromosome 22, 30067894: 30067894
2 NF2 NM_000268.3(NF2): c.240+1G> T single nucleotide variant Pathogenic rs587776562 GRCh37 Chromosome 22, 30032866: 30032866
3 NF2 NM_000268.3(NF2): c.1604T> C (p.Leu535Pro) single nucleotide variant Pathogenic rs74315493 GRCh37 Chromosome 22, 30077457: 30077457
4 NF2 NM_000268.3(NF2): c.1613A> C (p.Gln538Pro) single nucleotide variant Pathogenic rs74315494 GRCh37 Chromosome 22, 30077466: 30077466
5 NF2 NM_000268.3(NF2): c.286_288delTTC (p.Phe96del) deletion Pathogenic rs121434260 GRCh37 Chromosome 22, 30035124: 30035126
6 NF2 NM_000268.3(NF2): c.544G> T (p.Glu182Ter) single nucleotide variant Pathogenic rs74315495 GRCh37 Chromosome 22, 30051610: 30051610
7 NF2 NM_000268.3(NF2): c.784C> T (p.Arg262Ter) single nucleotide variant Pathogenic rs74315496 GRCh37 Chromosome 22, 30057302: 30057302
8 NF2 NM_000268.3(NF2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs74315497 GRCh37 Chromosome 22, 30064394: 30064394
9 NF2 NM_000268.3(NF2): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs74315499 GRCh37 Chromosome 22, 30067836: 30067836
10 NF2 NM_000268.3(NF2): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs74315501 GRCh37 Chromosome 22, 30069354: 30069354
11 NF2 NM_000268.3(NF2): c.1387G> T (p.Glu463Ter) single nucleotide variant Pathogenic rs74315503 GRCh37 Chromosome 22, 30070871: 30070871
12 NF2 NM_000268.3(NF2): c.1396C> T (p.Arg466Ter) single nucleotide variant Pathogenic rs74315504 GRCh37 Chromosome 22, 30070880: 30070880
13 NF2 NM_000268.3(NF2): c.1579G> T (p.Glu527Ter) single nucleotide variant Pathogenic rs74315505 GRCh37 Chromosome 22, 30077432: 30077432
14 NF2 NM_000268.3(NF2): c.185T> C (p.Phe62Ser) single nucleotide variant Pathogenic rs121434261 GRCh37 Chromosome 22, 30032810: 30032810
15 NF2 NM_000268.3(NF2): c.-443-?_*3798+?del deletion Pathogenic
16 NF2 NM_000268.3(NF2): c.1627A> T (p.Lys543Ter) single nucleotide variant Pathogenic rs878853925 GRCh38 Chromosome 22, 29681491: 29681491
17 NF2 NC_000022.11: g.(?_29639090)_(29639212_?)del deletion Likely pathogenic GRCh37 Chromosome 22, 30035079: 30035201
18 NF2 NC_000022.11: g.(?_29668333)_(29671948_?)del deletion Likely pathogenic GRCh37 Chromosome 22, 30064322: 30067937
19 NF2 NM_000268.3(NF2): c.432C> G (p.Tyr144Ter) single nucleotide variant Pathogenic rs1060503667 GRCh38 Chromosome 22, 29642270: 29642270
20 NF2 NM_000268.3(NF2): c.517-2A> G single nucleotide variant Pathogenic rs1060503670 GRCh38 Chromosome 22, 29655592: 29655592
21 NF2 NM_000268.3(NF2): c.676-2A> G single nucleotide variant Pathogenic rs1060503666 GRCh38 Chromosome 22, 29661203: 29661203

Copy number variations for Neurofibromatosis, Type 2 from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 163629 22 29600000 32200000 Copy number NF2 Neurofibromatosis type 2

Expression for Neurofibromatosis, Type 2

Search GEO for disease gene expression data for Neurofibromatosis, Type 2.

Pathways for Neurofibromatosis, Type 2

GO Terms for Neurofibromatosis, Type 2

Cellular components related to Neurofibromatosis, Type 2 according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 EPB41L3 EZR MSN NF2 RDX
2 cell projection GO:0042995 9.85 EZR MSN NF2 SLC9A3R1
3 perinuclear region of cytoplasm GO:0048471 9.83 EZR MSN NF2 SLC9A3R1
4 focal adhesion GO:0005925 9.77 EZR MSN RDX
5 apical plasma membrane GO:0016324 9.73 EZR MSN RDX SLC9A3R1
6 vesicle GO:0031982 9.69 EZR MSN SLC9A3R1
7 myelin sheath GO:0043209 9.67 EZR MSN RDX
8 ruffle GO:0001726 9.62 EZR NF2 RDX SLC9A3R1
9 ruffle membrane GO:0032587 9.61 EZR NF2
10 cell body GO:0044297 9.6 EZR NF2
11 cleavage furrow GO:0032154 9.58 NF2 RDX
12 cortical actin cytoskeleton GO:0030864 9.57 NF2 RDX
13 T-tubule GO:0030315 9.56 EZR RDX
14 microvillus GO:0005902 9.56 EZR MSN RDX SLC9A3R1
15 stereocilium GO:0032420 9.54 RDX SLC9A3R1
16 microvillus membrane GO:0031528 9.54 EZR MSN SLC9A3R1
17 uropod GO:0001931 9.46 EZR MSN
18 cell periphery GO:0071944 9.46 EZR MSN RDX SLC9A3R1
19 cell tip GO:0051286 9.4 EZR RDX
20 apical part of cell GO:0045177 9.35 EZR MSN NF2 RDX SLC9A3R1
21 filopodium GO:0030175 9.02 EZR MSN NF2 RDX SLC9A3R1
22 cytoplasm GO:0005737 10.12 EPB41L3 EZR MSN NF1 NF2 RDX

Biological processes related to Neurofibromatosis, Type 2 according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.79 NF1 NF2 SLC9A3R1
2 positive regulation of gene expression GO:0010628 9.77 EZR MSN RDX
3 actin cytoskeleton organization GO:0030036 9.74 NF1 NF2 SLC9A3R1
4 negative regulation of cell migration GO:0030336 9.72 NF1 NF2 SLC9A3R1
5 establishment of protein localization to plasma membrane GO:0090002 9.69 EZR RDX SLC9A3R1
6 microvillus assembly GO:0030033 9.65 EZR RDX SLC9A3R1
7 establishment of endothelial barrier GO:0061028 9.63 EZR MSN RDX
8 regulation of GTPase activity GO:0043087 9.62 NF1 RDX
9 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.61 EZR SLC9A3R1
10 establishment of epithelial cell apical/basal polarity GO:0045198 9.61 EZR MSN SLC9A3R1
11 leukocyte cell-cell adhesion GO:0007159 9.59 EZR MSN
12 negative regulation of MAPK cascade GO:0043409 9.58 NF1 NF2
13 negative regulation of cell-matrix adhesion GO:0001953 9.58 NF1 NF2
14 positive regulation of cellular protein catabolic process GO:1903364 9.58 EZR MSN RDX
15 cytoskeletal anchoring at plasma membrane GO:0007016 9.56 EPB41L3 EZR
16 protein kinase A signaling GO:0010737 9.54 EZR RDX
17 gland morphogenesis GO:0022612 9.54 EZR MSN SLC9A3R1
18 membrane to membrane docking GO:0022614 9.52 EZR MSN
19 positive regulation of early endosome to late endosome transport GO:2000643 9.5 EZR MSN RDX
20 positive regulation of protein localization to early endosome GO:1902966 9.43 EZR MSN RDX
21 regulation of cell shape GO:0008360 9.35 EPB41L3 EZR MSN RDX SLC9A3R1
22 regulation of organelle assembly GO:1902115 9.33 EZR MSN RDX
23 protein localization to plasma membrane GO:0072659 9.19 EPB41L3
24 regulation of cell size GO:0008361 8.92 EZR MSN RDX SLC9A3R1

Molecular functions related to Neurofibromatosis, Type 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.43 EZR RDX SLC9A3R1
2 ATPase binding GO:0051117 9.37 EZR RDX
3 actin binding GO:0003779 9.35 EPB41L3 EZR MSN NF2 RDX
4 cell adhesion molecule binding GO:0050839 9.32 EZR MSN
5 cytoskeletal protein binding GO:0008092 9.02 EPB41L3 EZR MSN NF2 RDX
6 protein kinase A binding GO:0051018 8.85 RDX

Sources for Neurofibromatosis, Type 2

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
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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