NF2
MCID: NRF023
MIFTS: 70

Neurofibromatosis, Type Ii (NF2)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Neurofibromatosis, Type Ii

MalaCards integrated aliases for Neurofibromatosis, Type Ii:

Name: Neurofibromatosis, Type Ii 57 36
Neurofibromatosis 2 11 24 73 43 14 71
Neurofibromatosis, Type 2 57 28 12 5 38
Nf2 57 11 24 73
Neurofibromatosis Type Ii 11 24 75
Bilateral Acoustic Neurofibromatosis 57 11
Central Neurofibromatosis 11 73
Banf 57 11
Acn 57 11
Nonmosaic Nf2-Related Schwannomatosis 58
Nonmosaic Neurofibromatosis Type 2 58
Full Nf2-Related Schwannomatosis 58
Neurofibromatosis, Central Type 57
Acoustic Schwannomas, Bilateral 57
Bilateral Acoustic Schwannomas 11
Acoustic Neurinoma, Bilateral 57
Full Neurofibromatosis Type 2 58
Bilateral Acoustic Neurinoma 11
Familial Acoustic Neuromas 11
Full Nf2 58

Characteristics:


Inheritance:

Neurofibromatosis, Type Ii: Autosomal dominant 57
Full Nf2-Related Schwannomatosis: Autosomal dominant 58

Prevelance:

Full Nf2-Related Schwannomatosis: 1-9/100000 (Europe, United Kingdom, United Kingdom, Finland) 58

Age Of Onset:

Full Nf2-Related Schwannomatosis: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incidence of 1 in 25,000 livebirths
nearly 100% penetrance by 60 years of age
approximately half of the mutations are de novo


GeneReviews:

24
Penetrance Penetrance is close to 100%. virtually all individuals who have a germline pathogenic variant develop the disease in an average lifetime....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111252
OMIM® 57 101000
ICD9CM 34 237.72
MeSH 43 D016518
NCIt 49 C3274
SNOMED-CT 68 700060008
MESH via Orphanet 44 D009464 D016518
ICD10 via Orphanet 32 Q85.0
UMLS via Orphanet 72 C0027832 C0027859 C1136041
Orphanet 58 ORPHA637
UMLS 71 C0027832

Summaries for Neurofibromatosis, Type Ii

OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Neurofibromatosis, Type Ii, also known as neurofibromatosis 2, is related to schwannomatosis 1 and acoustic neuroma, and has symptoms including ataxia, headache and tinnitus. An important gene associated with Neurofibromatosis, Type Ii is NF2 (NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor), and among its related pathways/superpathways are Signal Transduction and Cytoskeletal Signaling. The drugs Lapatinib and Axitinib have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, eye and brain, and related phenotypes are occasional neurofibromas and seizure

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has material basis in heterozygous of mutation in NF2 on 22q12.2.

Orphanet: 58 Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

Wikipedia: 75 Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas,... more...

GeneReviews: NBK1201

Related Diseases for Neurofibromatosis, Type Ii

Diseases in the Neurofibromatosis family:

Neurofibromatosis, Type Ii Neurofibromatosis, Type I

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

(show top 50) (show all 475)
# Related Disease Score Top Affiliating Genes
1 schwannomatosis 1 32.2 SMARCB1 NF2
2 acoustic neuroma 32.1 SMARCB1 RDX NF2 NF1 MSN EZR
3 neurilemmomatosis 31.9 SMARCB1 NF2 NF1 MSN
4 neuroma 31.8 SMARCB1 NF2 NF1
5 benign meningioma 31.7 TRAF7 NF2 EPB41L3
6 neurilemmoma of the fifth cranial nerve 31.7 NF2 NF1
7 epithelioid neurofibroma 31.6 NF2 NF1
8 fibrous meningioma 31.6 TRAF7 SMARCB1 NF2
9 small intestine leiomyoma 31.6 NF2 NF1
10 trigeminal nerve neoplasm 31.6 NF2 NF1
11 spinal cord astrocytoma 31.6 NF2 NF1
12 sphenoorbital meningioma 31.6 TRAF7 NF2
13 foramen magnum meningioma 31.6 TRAF7 NF2
14 epidural spinal canal neoplasm 31.6 NF2 NF1
15 cavernous sinus meningioma 31.6 TRAF7 NF2
16 psammomatous meningioma 31.6 TRAF7 NF2
17 microcystic meningioma 31.5 TRAF7 NF2
18 intraventricular meningioma 31.5 TRAF7 NF2
19 transitional meningioma 31.5 TRAF7 SMARCB1 NF2 EPB41
20 orbital cancer 31.5 NF2 NF1
21 posterior pituitary gland neoplasm 31.5 SMARCB1 NF2
22 polyp of corpus uteri 31.5 NF2 NF1
23 pineal region meningioma 31.5 SMARCB1 NF2
24 angiomatous meningioma 31.5 TRAF7 NF2
25 rete ovarii adenoma 31.5 NF2 NF1
26 intraneural perineurioma 31.5 TRAF7 NF2
27 petroclival meningioma 31.5 TRAF7 NF2
28 rete ovarii benign neoplasm 31.5 NF2 NF1
29 tuberculum sellae meningioma 31.5 TRAF7 NF2 EPB41
30 sella turcica neoplasm 31.5 TRAF7 NF2 EPB41
31 anaplastic ependymoma 31.5 YAP1 SMARCB1 NF2
32 peripheral nerve schwannoma 31.4 SMARCB1 NF2 NF1
33 plexiform schwannoma 31.4 SMARCB1 NF2 NF1
34 optic nerve glioma 31.4 NF2 NF1
35 cellular schwannoma 31.4 SMARCB1 NF2 NF1
36 high grade ependymoma 31.4 YAP1 SMARCB1 NF2
37 atypical teratoid rhabdoid tumor 31.4 SMARCB1 NF2 NF1
38 melanotic neurilemmoma 31.4 SMARCB1 NF2
39 atypical neurofibroma 31.4 SMARCB1 NF2 NF1
40 secretory meningioma 31.4 TRAF7 SMARCB1 NF2
41 optic nerve neoplasm 31.4 SMARCB1 NF2 NF1
42 schwannoma of twelfth cranial nerve 31.4 SMARCB1 NF2 NF1
43 neurofibromatosis 31.4 YAP1 SMARCB1 RDX NF2 NF1 MSN
44 hypoglossal nerve disease 31.4 SMARCB1 NF2 NF1
45 rhabdoid meningioma 31.4 TRAF7 SMARCB1 NF2
46 meningothelial meningioma 31.4 TRAF7 SMARCB1 NF2
47 clear cell meningioma 31.4 TRAF7 SMARCB1 NF2
48 cranial nerve malignant neoplasm 31.4 SMARCB1 NF2 NF1
49 plexiform neurofibroma 31.4 SMARCB1 NF2 NF1
50 cerebral meningioma 31.4 TRAF7 NF2

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



Diseases related to Neurofibromatosis, Type Ii

Symptoms & Phenotypes for Neurofibromatosis, Type Ii

Human phenotypes related to Neurofibromatosis, Type Ii:

30 58 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 occasional neurofibromas 30 Occasional (7.5%) HP:0009595
2 seizure 58 30 Very rare (1%) Occasional (29-5%)
HP:0001250
3 retinal hamartoma 58 30 Very rare (1%) Occasional (29-5%)
HP:0009594
4 tinnitus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000360
5 ependymoma 58 30 Very rare (1%) Occasional (29-5%)
HP:0002888
6 bilateral vestibular schwannoma 58 30 Very rare (1%) Frequent (79-30%)
HP:0009589
7 cortical cataract 58 30 Very rare (1%) Occasional (29-5%)
HP:0100019
8 ataxia 30 Very rare (1%) HP:0001251
9 hearing impairment 30 Very rare (1%) HP:0000365
10 vertigo 30 Very rare (1%) HP:0002321
11 cafe-au-lait spot 30 Very rare (1%) HP:0000957
12 juvenile posterior subcapsular lenticular opacities 30 Very rare (1%) HP:0007935
13 unilateral vestibular schwannoma 30 Very rare (1%) HP:0009590
14 optic nerve sheath meningioma 30 Very rare (1%) HP:0500089
15 astrocytoma 58 30 Very rare (<4-1%)
HP:0009592
16 epiretinal membrane 58 30 Occasional (29-5%)
HP:0100014
17 peripheral schwannoma 58 30 Frequent (79-30%)
HP:0009593
18 diplopia 58 Occasional (29-5%)
19 dysarthria 58 Occasional (29-5%)
20 dysphagia 58 Occasional (29-5%)
21 facial palsy 58 Occasional (29-5%)
22 hydrocephalus 58 Occasional (29-5%)
23 sensorineural hearing impairment 58 Frequent (79-30%)
24 blindness 58 Occasional (29-5%)
25 cranial nerve paralysis 58 Occasional (29-5%)
26 abnormality of the eye 58 Frequent (79-30%)
27 amblyopia 58 Occasional (29-5%)
28 neoplasm of the skin 58 Occasional (29-5%)
29 reduced visual acuity 58 Frequent (79-30%)
30 glioma 58 Very rare (<4-1%)
31 sensory neuropathy 58 Occasional (29-5%)
32 peripheral neuropathy 30 HP:0009830
33 headache 30 HP:0002315
34 memory impairment 58 Occasional (29-5%)
35 meningioma 58 Frequent (79-30%)
36 remnants of the hyaloid vascular system 58 Very rare (<4-1%)
37 abnormal cerebellum morphology 58 Occasional (29-5%)
38 spinal cord tumor 58 Frequent (79-30%)
39 foot dorsiflexor weakness 58 Occasional (29-5%)
40 hyperesthesia 58 Frequent (79-30%)
41 aphasia 58 Very rare (<4-1%)
42 hemiparesis 58 Occasional (29-5%)
43 polyneuropathy 58 Occasional (29-5%)
44 brain stem compression 58 Occasional (29-5%)
45 sensory impairment 58 Occasional (29-5%)
46 unsteady gait 58 Occasional (29-5%)
47 visual loss 58 Occasional (29-5%)
48 abnormality of the optic nerve 58 Occasional (29-5%)
49 wrist drop 58 Occasional (29-5%)
50 postural instability 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
ataxia
headache

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Ears:
tinnitus
hearing loss

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

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

Clinical features from OMIM®:

101000 (Updated 08-Dec-2022)

UMLS symptoms related to Neurofibromatosis, Type Ii:


ataxia; headache; tinnitus

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 NF2 SMARCB1

MGI Mouse Phenotypes related to Neurofibromatosis, Type Ii:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 10.25 EPB41 LATS1 LATS2 MOB1A NF1 NF2
2 homeostasis/metabolism MP:0005376 10.25 EPB41 LATS1 LATS2 MED28 MOB1A MSN
3 growth/size/body region MP:0005378 10.24 AMOT EZR LATS1 LATS2 MED28 MOB1A
4 nervous system MP:0003631 10.2 AMOT EPB41L3 LATS1 LATS2 MOB1A NF1
5 neoplasm MP:0002006 10.13 EPB41L3 LATS1 MOB1A NF1 NF2 SAV1
6 embryo MP:0005380 9.97 AMOT LATS2 MED28 MOB1A NF1 NF2
7 cellular MP:0005384 9.97 AMOT EPB41L3 LATS1 LATS2 MED28 MOB1A
8 digestive/alimentary MP:0005381 9.86 EZR MOB1A NF1 NF2 SAV1 SMARCB1
9 behavior/neurological MP:0005386 9.73 EPB41L3 LATS1 LATS2 MOB1A MSN NF1
10 mortality/aging MP:0010768 9.5 AMOT EPB41 EPB41L3 EZR LATS1 LATS2

Drugs & Therapeutics for Neurofibromatosis, Type Ii

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908
2
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
3
Lactitol Approved, Investigational Phase 2 585-86-4 157355
4
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
5
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
6
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
7
Crizotinib Approved, Investigational Phase 2 877399-52-5 11626560
8
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
9 Endostatins Phase 2
10 Analgesics Phase 2
11 Antirheumatic Agents Phase 2
12 Fibrinolytic Agents Phase 2
13 Antipyretics Phase 2
14 Cyclooxygenase Inhibitors Phase 2
15 Platelet Aggregation Inhibitors Phase 2
16 Anti-Inflammatory Agents, Non-Steroidal Phase 2
17 Analgesics, Non-Narcotic Phase 2
18 Anti-Inflammatory Agents Phase 2
19 Antiprotozoal Agents Phase 1, Phase 2
20 Antiparasitic Agents Phase 1, Phase 2
21 Antimalarials Phase 1, Phase 2
22 Protein Kinase Inhibitors Phase 2
23 Immunosuppressive Agents Phase 2
24 Immunologic Factors Phase 2
25
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030
26
Bevacizumab Approved, Investigational Phase 1 216974-75-3 135329020
27
Cetuximab Approved Phase 1 205923-56-4
28
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
29
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
30
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
31 Angiogenesis Inhibitors Phase 1
32 Anti-Bacterial Agents Phase 1
33 Anti-Infective Agents Phase 1
34 Immunoglobulins, Intravenous Phase 1
35 Immunoglobulins Phase 1
36 Antibodies, Monoclonal Phase 1
37 Antibodies Phase 1
38 Antineoplastic Agents, Immunological Phase 1
39 Endothelial Growth Factors Phase 1
40 Mitogens Phase 1
41 Neurotransmitter Agents Phase 1
42 Immunoglobulin G Phase 1
43 Antifungal Agents Phase 1
44 Psychotropic Drugs Phase 1
45 Anticonvulsants Phase 1
46 Antibiotics, Antitubercular Phase 1
47 Dermatologic Agents
48 Histone Deacetylase Inhibitors Early Phase 1

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 A Parallel-group, Two-staged, Phase 2/3, Randomized, Multicenter Study to Evaluate the Efficacy and Safety of REC-2282 in Participants With Progressive NF2 Mutated Meningiomas Recruiting NCT05130866 Phase 2, Phase 3 REC-2282;Placebo
2 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
3 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
4 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
5 A Single Arm Phase 2 Study of the Dual mTORC1/mTORC2 Inhibitor AZD2014 Provided on an Intermittent Schedule for Neurofibromatosis 2 Patients With Progressive or Symptomatic Meningiomas Completed NCT02831257 Phase 2 AZD2014
6 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
7 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
8 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
9 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
10 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
11 Open-label, Phase 2 Study of Bevacizumab in Children and Young Adults With Neurofibromatosis 2 and Progressive Vestibular Schwannomas That Are Poor Candidates for Standard Treatment With Surgery or Radiation Completed NCT01767792 Phase 2 Bevacizumab
12 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02934256 Phase 2 Icotinib
13 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
14 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
15 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib
16 Doxycycline Injection of Cutaneous Schwannoma in Neurofibromatosis Type 2 Recruiting NCT05521048 Phase 1, Phase 2 Doxycycline Injection [Doxy]
17 Open-label, Phase 2 Clinical Trial of Crizotinib for Children and Adults With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Active, not recruiting NCT04283669 Phase 2 Crizotinib
18 A Single Arm, Monocenter Phase II Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis Type 2 - Related Vestibular Schwannoma Active, not recruiting NCT01345136 Phase 2 RAD001, everolimus
19 A Phase 2 Study to Assess the Efficacy, Safety, and Pharmacodynamic Activity of PTC299 in Patients With Neurofibromatosis Type 2 Terminated NCT00911248 Phase 2 PTC299
20 A Feasibility Study of the Placement, Use, and Safety of the Nucleus 24 Auditory Brainstem Implant in Non-Neurofibromatosis Type 2 (NF2) Pediatric Patients Unknown status NCT02102256 Phase 1
21 Penetrating Auditory Brainstem Implant for Neurofibromatosis 2 Completed NCT00030043 Phase 1
22 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Active, not recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
23 A Feasibility Study of the Placement, Use, and Safety of the Nucleus 24 Auditory Brainstem Implant in Non-Neurofibromatosis Type 2 (NF2) Pediatric Patients Withdrawn NCT01850225 Phase 1
24 NF2 Natural History Consortium Unknown status NCT00004483
25 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02298270
26 Exploration and Estimation of Intratumoral Concentration and Activity of Lapatinib in Vivo in Vestibular Schwannomas Completed NCT00863122 Early Phase 1 lapatinib
27 A Study Investigating the Inter- and Intra- Rater Reliability of Functional Outcome Measures in Neurofibromatosis 2 Completed NCT03617276
28 Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype Completed NCT02811718
29 Exploring the Activity of RAD001 in Vestibular Schwannomas and Meningiomas Completed NCT01880749 Early Phase 1 RAD001
30 The Effect of Changes in Head Position on Magnetic Resonance Image Distortion in Patients With Auditory Implants Completed NCT02246231
31 Whole Exome Sequencing (WES) of NF2-associated in Comparison to Sporadic Vestibular Schwannomas - Correlation With Clinical Data Completed NCT03210285
32 Using Positron Emission Tomography (PET) to Predict Intracranial Tumor Growth in Neurofibromatosis Type II (NF2) Patients Completed NCT01222728
33 Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis Completed NCT02435628
34 An Early Feasibility Study of the Safety and Efficacy of the Nucleus 24 Auditory Brainstem Implant in Children With Cochlear or Cochlear Nerve Disorders Not Resulting From Neurofibromatosis Type II Completed NCT01904448
35 Multicentre Prospective Observational Study: Resentment of Mucocutaneous Manifestations and the Value of Dermatological Examination in the Early Detection of Type 2 Neurofibromatosis in Children Under 15 Years of Age Recruiting NCT03893643
36 Neurofibromatosis (NF) Registry Portal Funded by Children's Tumor Foundation Recruiting NCT01885767
37 Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing Recruiting NCT03406208
38 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
39 A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2). Recruiting NCT00598351
40 Vestibular Precision: Physiology & Pathophysiology Enrolling by invitation NCT04890132
41 Compassionate Use Arm - ABI541 Auditory Brainstem Implant for Neurofibromatosis Type 2 Patients With Deafness No longer available NCT02589912
42 Exploratory Evaluation of AR-42 Histone Deacetylase Inhibitor in the Treatment of Vestibular Schwannoma and Meningioma Terminated NCT02282917 Early Phase 1 AR-42
43 Study of the Nucleus 24 and ABI541 Auditory Brainstem Implants in Pediatric Non-Neurofibromatosis Type 2 Terminated NCT01864291
44 Study of Nucleus 24 and ABI541 Auditory Brainstem Implants (ABI) in Adult Non-Neurofibromatosis Type 2 Subjects Terminated NCT01736267

Search NIH Clinical Center for Neurofibromatosis, Type Ii

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Neurofibromatosis, Type Ii cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Neurofibromatosis, Type Ii:
Laviv azficel-T, dermal fibroblasts for scarring
Embryonic/Adult Cultured Cells Related to Neurofibromatosis, Type Ii:
Skin-derived fibroblasts PMIDs: 21287562 10805306 23211390

Cochrane evidence based reviews: neurofibromatosis 2

Genetic Tests for Neurofibromatosis, Type Ii

Genetic tests related to Neurofibromatosis, Type Ii:

# Genetic test Affiliating Genes
1 Neurofibromatosis, Type 2 28 NF2

Anatomical Context for Neurofibromatosis, Type Ii

Organs/tissues related to Neurofibromatosis, Type Ii:

MalaCards : Spinal Cord, Eye, Brain, Skin, Cerebellum, Endothelial, Retina

Publications for Neurofibromatosis, Type Ii

Articles related to Neurofibromatosis, Type Ii:

(show top 50) (show all 2416)
# Title Authors PMID Year
1
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. 62 24 57 5
8751853 1996
2
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 24 57 5
9643284 1998
3
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. 62 57 5
8755919 1996
4
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 62 57 5
8379998 1993
5
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. 62 24 5
27856782 2017
6
What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 62 24 5
18173316 2008
7
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. 62 24 57
17307835 2007
8
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. 62 24 57
15994874 2005
9
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. 62 24 57
15190457 2004
10
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. 62 24 5
15684865 2004
11
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. 62 24 5
12807969 2003
12
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. 62 24 5
12566519 2003
13
Predictors of the risk of mortality in neurofibromatosis 2. 62 24 57
12235555 2002
14
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. 62 24 57
12011146 2002
15
Paediatric presentation of type 2 neurofibromatosis. 62 24 57
10569966 1999
16
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. 62 24 57
7747758 1994
17
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. 24 5
9718334 1998
18
A clinical study of type 2 neurofibromatosis. 24 57
1484939 1992
19
Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders. 62 5
28737257 2018
20
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 62 5
27704245 2016
21
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. 62 5
26407091 2016
22
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype. 62 5
25931164 2015
23
Application of COLD-PCR for improved detection of NF2 mosaic mutations. 62 5
24815379 2014
24
Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features. 62 5
22711605 2012
25
Temporal bone histopathology in neurofibromatosis type 2. 62 5
21671232 2011
26
Empirical development of improved diagnostic criteria for neurofibromatosis 2. 62 57
21451418 2011
27
Further genotype--phenotype correlations in neurofibromatosis 2. 62 5
19968670 2010
28
An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2). 62 57
19880713 2009
29
Neurofibromatosis type 2. 62 57
19476995 2009
30
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. 62 5
18766994 2008
31
Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. 62 5
18670066 2008
32
[Phenotype-genotype study in 154 French NF2 mutation carriers]. 62 5
18033041 2007
33
Ocular pathologic findings of neurofibromatosis type 2. 62 57
17353411 2007
34
Screening for large mutations of the NF2 gene. 62 5
15645494 2005
35
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. 62 57
15235024 2004
36
Genotype-phenotype correlations for cataracts in neurofibromatosis 2. 62 57
14569124 2003
37
Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2). 62 57
12960214 2003
38
Evaluation of clinical diagnostic criteria for neurofibromatosis 2. 62 57
12473765 2002
39
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. 62 5
12118253 2002
40
Neurofibromatosis 2 and malignant mesothelioma. 62 57
12136076 2002
41
The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells. 62 5
11809806 2002
42
Maternal gene effect in neurofibromatosis 2: fact or artefact? 62 57
11732488 2001
43
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. 62 57
11425952 2001
44
Monocular elevator paresis in neurofibromatosis type 2. 62 57
11342693 2001
45
The parental origin of new mutations in neurofibromatosis 2. 62 5
11085592 2000
46
Mutations and allelic loss of the NF2 gene in neurofibromatosis 2-associated skin tumors. 62 57
10771486 2000
47
Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations. 62 5
10712203 2000
48
Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection. 62 5
10220142 1999
49
NF2 gene in neurofibromatosis type 2 patients. 62 5
9817927 1998
50
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. 62 5
9391890 1997

Variations for Neurofibromatosis, Type Ii

ClinVar genetic disease variations for Neurofibromatosis, Type Ii:

5 (show top 50) (show all 1169)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF2 NM_000268.4(NF2):c.544G>T (p.Glu182Ter) SNV Pathogenic
3289 rs74315495 GRCh37: 22:30051610-30051610
GRCh38: 22:29655621-29655621
2 NF2 NM_000268.4(NF2):c.784C>T (p.Arg262Ter) SNV Pathogenic
3290 rs74315496 GRCh37: 22:30057302-30057302
GRCh38: 22:29661313-29661313
3 NF2 NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) SNV Pathogenic
3292 rs74315499 GRCh37: 22:30067836-30067836
GRCh38: 22:29671847-29671847
4 NF2 NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) SNV Pathogenic
3294 rs74315503 GRCh37: 22:30070871-30070871
GRCh38: 22:29674882-29674882
5 NF2 NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) SNV Pathogenic
3296 rs74315505 GRCh37: 22:30077432-30077432
GRCh38: 22:29681443-29681443
6 NF2 NM_000268.4(NF2):c.185T>C (p.Phe62Ser) SNV Pathogenic
3297 rs121434261 GRCh37: 22:30032810-30032810
GRCh38: 22:29636821-29636821
7 NF2 NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) SNV Pathogenic
3287 rs74315494 GRCh37: 22:30077466-30077466
GRCh38: 22:29681477-29681477
8 NF2 NM_000268.4(NF2):c.122G>A (p.Trp41Ter) SNV Pathogenic
449433 rs1555986860 GRCh37: 22:30032747-30032747
GRCh38: 22:29636758-29636758
9 NF2 NC_000022.11:g.(?_29603989)_(29604122_?)del DEL Pathogenic
661747 GRCh37: 22:29999978-30000111
GRCh38: 22:29603989-29604122
10 NF2 NM_000268.4(NF2):c.193C>T (p.Gln65Ter) SNV Pathogenic
864000 rs2065661533 GRCh37: 22:30032818-30032818
GRCh38: 22:29636829-29636829
11 NF2 NM_000268.4(NF2):c.517-1G>A SNV Pathogenic
423789 rs1064796632 GRCh37: 22:30051582-30051582
GRCh38: 22:29655593-29655593
12 NF2 NM_000268.4(NF2):c.1575-2A>G SNV Pathogenic
934838 rs2067131272 GRCh37: 22:30077426-30077426
GRCh38: 22:29681437-29681437
13 NF2 NM_000268.4(NF2):c.1413_1428del (p.Leu472fs) DEL Pathogenic
936088 rs2066915159 GRCh37: 22:30070897-30070912
GRCh38: 22:29674908-29674923
14 NF2 NM_000268.4(NF2):c.58A>T (p.Lys20Ter) SNV Pathogenic
938925 rs2064715459 GRCh37: 22:30000045-30000045
GRCh38: 22:29604056-29604056
15 NF2 NM_000268.4(NF2):c.679A>T (p.Lys227Ter) SNV Pathogenic
937475 rs2066466759 GRCh37: 22:30057197-30057197
GRCh38: 22:29661208-29661208
16 NF2 NM_000268.4(NF2):c.863C>G (p.Ser288Ter) SNV Pathogenic
870602 rs2066580454 GRCh37: 22:30061031-30061031
GRCh38: 22:29665042-29665042
17 NF2 NM_000268.4(NF2):c.1737+2T>C SNV Pathogenic
863067 rs1556003801 GRCh37: 22:30077592-30077592
GRCh38: 22:29681603-29681603
18 NF2 NM_000268.4(NF2):c.1210G>T (p.Glu404Ter) SNV Pathogenic
862341 rs2066861383 GRCh37: 22:30069345-30069345
GRCh38: 22:29673356-29673356
19 NF2 NM_000268.4(NF2):c.251dup (p.His84fs) DUP Pathogenic
861060 rs2065728187 GRCh37: 22:30035088-30035089
GRCh38: 22:29639099-29639100
20 NF2 NM_000268.4(NF2):c.431dup (p.Tyr144Ter) DUP Pathogenic
855264 rs2065831369 GRCh37: 22:30038257-30038258
GRCh38: 22:29642268-29642269
21 NF2 NC_000022.11:g.(?_29603999)_(29642295_?)del DEL Pathogenic
832466 GRCh37: 22:29999988-30038284
GRCh38:
22 NF2 NM_000268.4(NF2):c.1340+2T>G SNV Pathogenic
803675 rs1601649049 GRCh37: 22:30069477-30069477
GRCh38: 22:29673488-29673488
23 NF2 NM_000268.4(NF2):c.1229del (p.Gln410fs) DEL Pathogenic
803674 rs1601648452 GRCh37: 22:30069364-30069364
GRCh38: 22:29673375-29673375
24 NF2 NM_000268.4(NF2):c.1060del (p.Asp354fs) DEL Pathogenic
803673 rs1601644146 GRCh37: 22:30067873-30067873
GRCh38: 22:29671884-29671884
25 NF2 NM_000268.4(NF2):c.933del (p.Ala313fs) DEL Pathogenic
803671 rs1601636894 GRCh37: 22:30064368-30064368
GRCh38: 22:29668379-29668379
26 NF2 NM_000268.4(NF2):c.810+2T>C SNV Pathogenic
803670 rs1601624296 GRCh37: 22:30057330-30057330
GRCh38: 22:29661341-29661341
27 NF2 NM_000268.4(NF2):c.745_752del (p.Arg249fs) DEL Pathogenic
803669 rs1601624078 GRCh37: 22:30057261-30057268
GRCh38: 22:29661272-29661279
28 NF2 NM_000268.4(NF2):c.600-2A>G SNV Pathogenic
803668 rs1601618501 GRCh37: 22:30054176-30054176
GRCh38: 22:29658187-29658187
29 NF2 NC_000022.11:g.(?_29671816)_(29678333_?)del DEL Pathogenic
831227 GRCh37: 22:30067805-30074322
GRCh38:
30 NF2 NC_000022.11:g.(?_29603999)_(29604122_?)del DEL Pathogenic
831122 GRCh37: 22:29999988-30000111
GRCh38:
31 NF2 NC_000022.11:g.(?_29658157)_(29661364_?)del DEL Pathogenic
830877 GRCh37: 22:30054146-30057353
GRCh38:
32 NF2 NC_000022.11:g.(?_29603989)_(29636886_?)del DEL Pathogenic
833432 GRCh37: 22:29999978-30032875
GRCh38:
33 NF2 NM_000268.4(NF2):c.493C>T (p.Gln165Ter) SNV Pathogenic
803666 rs1601611973 GRCh37: 22:30050691-30050691
GRCh38: 22:29654702-29654702
34 NF2 NM_000268.4(NF2):c.179_185del (p.Trp60fs) DEL Pathogenic
803663 rs1601579095 GRCh37: 22:30032803-30032809
GRCh38: 22:29636814-29636820
35 NF2 NC_000022.11:g.(?_29636741)_(29639222_?)del DEL Pathogenic
665033 GRCh37: 22:30032730-30035211
GRCh38: 22:29636741-29639222
36 NF2 NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) MICROSAT Pathogenic
664255 rs1601649018 GRCh37: 22:30069467-30069470
GRCh38: 22:29673478-29673481
37 NF2 NC_000022.11:g.(?_29673259)_(29673496_?)del DEL Pathogenic
652949 GRCh37: 22:30069248-30069485
GRCh38: 22:29673259-29673496
38 NF2 NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) SNV Pathogenic
659824 rs1601666156 GRCh37: 22:30077499-30077499
GRCh38: 22:29681510-29681510
39 NF2 NM_000268.4(NF2):c.517-92_568del DEL Pathogenic
654267 rs1601613230 GRCh37: 22:30051485-30051628
GRCh38: 22:29655496-29655639
40 NF2 NM_000268.4(NF2):c.516+1G>A SNV Pathogenic
646675 rs1601612044 GRCh37: 22:30050715-30050715
GRCh38: 22:29654726-29654726
41 NF2 NM_000268.4(NF2):c.69dup (p.Val24fs) DUP Pathogenic
644553 rs1601515970 GRCh37: 22:30000054-30000055
GRCh38: 22:29604065-29604066
42 NF2 NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) SNV Pathogenic
640644 rs1601643866 GRCh37: 22:30067818-30067818
GRCh38: 22:29671829-29671829
43 NF2 NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) SNV Pathogenic
643102 rs1601618646 GRCh37: 22:30054236-30054236
GRCh38: 22:29658247-29658247
44 NF2 NC_000022.11:g.(?_29603989)_(29681611_?)del DEL Pathogenic
640993 GRCh37: 22:29999978-30077600
GRCh38: 22:29603989-29681611
45 NF2 NC_000022.11:g.(?_29636741)_(29661349_?)del DEL Pathogenic
583523 GRCh37: 22:30032730-30057338
GRCh38: 22:29636741-29661349
46 NF2 NM_000268.4(NF2):c.999+1G>A SNV Pathogenic
583001 rs1569302393 GRCh37: 22:30064436-30064436
GRCh38: 22:29668447-29668447
47 NF2 NM_000268.4(NF2):c.1122+1G>A SNV Pathogenic
567477 rs1569304774 GRCh37: 22:30067938-30067938
GRCh38: 22:29671949-29671949
48 NF2 NC_000022.11:g.(?_29642196)_(29642291_?)del DEL Pathogenic
583855 GRCh37: 22:30038185-30038280
GRCh38: 22:29642196-29642291
49 NF2 NM_000268.4(NF2):c.1447-2del DEL Pathogenic
547707 rs1556002457 GRCh37: 22:30074183-30074183
GRCh38: 22:29678194-29678194
50 NF2 NC_000022.11:g.(?_29668327)_(29678329_?)del DEL Pathogenic
527725 GRCh37: 22:30064316-30074318
GRCh38: 22:29668327-29678329

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

73 (show all 16)
# 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 rs1601618646
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

Copy number variations for Neurofibromatosis, Type Ii from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 163466 22 28329544 28424589 Deletion NF2
2 163465 22 28329544 28424589 Deletion NF2

Expression for Neurofibromatosis, Type Ii

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

Pathways for Neurofibromatosis, Type Ii

GO Terms for Neurofibromatosis, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.53 EZR EPB41L3 EPB41 AMOT LATS1 LATS2
2 adherens junction GO:0005912 9.97 EZR MSN NF2 RDX
3 microvillus GO:0005902 9.91 RDX MSN EZR
4 apical part of cell GO:0045177 9.86 RDX NF2 MSN EZR
5 cortical actin cytoskeleton GO:0030864 9.8 RDX NF2 MED28
6 filopodium GO:0030175 9.7 EZR MSN NF2 RDX
7 cell periphery GO:0071944 9.5 EZR MSN NF2 RDX
8 cytoskeleton GO:0005856 9.47 EPB41 EPB41L3 EZR LATS1 LATS2 MED28

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 10.2 NF2 NF1 EPB41 AMOT
2 regulation of cell shape GO:0008360 10.1 RDX MSN EZR EPB41L3 EPB41
3 keratinocyte differentiation GO:0030216 9.97 YAP1 SAV1 LATS2 LATS1
4 regulation of stem cell proliferation GO:0072091 9.91 YAP1 NF2
5 establishment of endothelial barrier GO:0061028 9.91 RDX MSN EZR
6 regulation of cell population proliferation GO:0042127 9.89 YAP1 SAV1 NF2 NF1
7 lung epithelial cell differentiation GO:0060487 9.88 YAP1 SAV1
8 negative regulation of Schwann cell proliferation GO:0010626 9.87 NF2 NF1
9 heart process GO:0003015 9.86 YAP1 WWTR1
10 regulation of hippo signaling GO:0035330 9.85 WWC1 NF2
11 regulation of cell size GO:0008361 9.85 RDX MSN EZR
12 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.84 YAP1 WWTR1
13 membrane to membrane docking GO:0022614 9.83 MSN EZR
14 inner cell mass cell fate commitment GO:0001827 9.81 LATS1 LATS2
15 inner cell mass cellular morphogenesis GO:0001828 9.8 LATS1 LATS2
16 positive regulation of protein localization to early endosome GO:1902966 9.8 RDX MSN EZR
17 intestinal epithelial cell differentiation GO:0060575 9.78 YAP1 SAV1
18 Schwann cell proliferation GO:0014010 9.78 NF1 NF2
19 gland morphogenesis GO:0022612 9.75 MSN EZR
20 regulation of organ growth GO:0046620 9.65 SAV1 LATS2 LATS1
21 positive regulation of early endosome to late endosome transport GO:2000643 9.63 EZR MSN RDX
22 hippo signaling GO:0035329 9.47 MOB1A AMOT LATS1 LATS2 YAP1 WWTR1
23 regulation of organelle assembly GO:1902115 9.43 RDX MSN EZR

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.8 RDX NF2 MSN MED28 EZR EPB41L3
2 cytoskeletal protein binding GO:0008092 9.1 RDX NF2 MSN EZR EPB41L3 EPB41

Sources for Neurofibromatosis, Type Ii

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