NF2
MCID: ACS001
MIFTS: 72

Acoustic Neuroma (NF2)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Acoustic Neuroma

MalaCards integrated aliases for Acoustic Neuroma:

Name: Acoustic Neuroma 11 19 58 75 41 14 71 75
Neurofibromatosis Type 2 19 42 58 75 53 33
Vestibular Schwannoma 11 19 58 14 75
Bilateral Acoustic Neurofibromatosis 19 42 33
Acoustic Neurinoma 19 58 75
Nf2 19 42 58
Neurofibromatosis Central Type 19 5
Cerebellopontine Angle Tumor 19 71
Neurofibromatosis Type Ii 19 42
Acoustic Neurilemoma 19 58
Nf2 - [neurofibromatosis Type 2] 33
Neurofibromatosis, Central Type 33
Neurinoma of the Acoustic Nerve 19
Neurofibromatosis Type 2 Merlin 42
Schwannoma, Acoustic, Bilateral 42
Acoustic Schwannomas Bilateral 19
Familial Vestibular Schwannoma 33
Acoustic Neurinoma Bilateral 19
Familial Acoustic Neuromas 42
Central Neurofibromatosis 42
Familial Acoustic Neuroma 33
Vestibular Neurilemmoma 11
Neurofibromatosis 2 42
Neuroma, Acoustic 43
Neuroma Acoustic 53
Acoustic Tumor 19
Banf 42

Characteristics:


Inheritance:

Neurofibromatosis Type 2: Autosomal dominant 58

Prevelance:

Neurofibromatosis Type 2: 1-9/100000 (Europe, United Kingdom, United Kingdom, Finland) 58
Vestibular Schwannoma: 1-9/100000 (Denmark, United States) 1-9/1000000 (Specific population) 58

Age Of Onset:

Neurofibromatosis Type 2: All ages 58

Classifications:

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


Summaries for Acoustic Neuroma

MedlinePlus Genetics: 42 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. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumors are called meningiomas. Tumors can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

MalaCards based summary: Acoustic Neuroma, also known as neurofibromatosis type 2, is related to neuroma and neurofibromatosis, type i, and has symptoms including back pain, coughing and headache. An important gene associated with Acoustic Neuroma is NF2 (NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Development VEGF signaling via VEGFR2 - generic cascades. The drugs Lapatinib and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye, and related phenotypes are neuroma and sensorineural hearing impairment

MedlinePlus: 41 An acoustic neuroma is a benign tumor that develops on the nerve that connects the ear to the brain. The tumor usually grows slowly. As it grows, it presses against the hearing and balance nerves. At first, you may have no symptoms or mild symptoms. They can include: Loss of hearing on one side Ringing in ears Dizziness and balance problems The tumor can also eventually cause numbness or paralysis of the face. If it grows large enough, it can press against the brain, becoming life-threatening. Acoustic neuroma can be difficult to diagnose, because the symptoms are similar to those of middle ear problems. Ear exams, hearing tests, and scans can show if you have it. If the tumor stays small, you may only need to have it checked regularly. If you do need treatment, surgery and radiation are options. If the tumors affect both hearing nerves, it is often because of a genetic disorder called neurofibromatosis. NIH: National Institute on Deafness and Communication Disorders

Orphanet 58 Vestibular schwannoma: Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

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

GARD: 19 Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

Wikipedia 75 Acoustic neuroma: A vestibular schwannoma (VS), also called acoustic neuroma, is a benign tumor that develops on the... more...

Neurofibromatosis type 2: Neurofibromatosis type II (also known as MISME syndrome - multiple inherited schwannomas, meningiomas,... more...

Related Diseases for Acoustic Neuroma

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

(show top 50) (show all 717)
# Related Disease Score Top Affiliating Genes
1 neuroma 32.5 NF2 NF1 LZTR1
2 neurofibromatosis, type i 32.1 SDHD NF2 NF1 AKT1
3 neurilemmoma of the fifth cranial nerve 31.7 NF2 NF1
4 neurilemmomatosis 31.7 RDX NF2 NF1 MSN LZTR1
5 epithelioid neurofibroma 31.6 NF2 NF1
6 childhood meningioma 31.6 NF2 EPB41L3
7 small intestine leiomyoma 31.6 NF2 NF1
8 trigeminal nerve neoplasm 31.6 NF2 NF1
9 psammomatous meningioma 31.6 SLC9A3R1 NF2
10 spinal cord astrocytoma 31.6 NF2 NF1
11 epidural spinal canal neoplasm 31.6 NF2 NF1
12 cellular schwannoma 31.6 NF2 NF1
13 orbital cancer 31.6 NF2 NF1
14 polyp of corpus uteri 31.5 NF2 NF1
15 schwannoma of twelfth cranial nerve 31.5 NF2 NF1
16 hypoglossal nerve disease 31.5 NF2 NF1
17 rete ovarii adenoma 31.5 NF2 NF1
18 rete ovarii benign neoplasm 31.5 NF2 NF1
19 spinal meningioma 31.5 NF2 NF1 LZTR1
20 intracranial meningioma 31.5 NF2 NF1 LZTR1
21 malignant pleural mesothelioma 31.5 NF2 CD44 AKT1
22 optic nerve glioma 31.5 NF2 NF1
23 benign ependymoma 31.4 NF2 NF1 AKT1
24 basal cell nevus syndrome 31.4 NF2 NF1 AKT1
25 peripheral nerve schwannoma 31.4 NF2 NF1 LZTR1
26 central nervous system benign neoplasm 31.4 NF2 NF1 AKT1
27 plexiform schwannoma 31.4 NF2 NF1 LZTR1
28 skull base meningioma 31.4 NF2 AKT1
29 atypical neurofibroma 31.4 NF2 NF1 LZTR1
30 optic nerve neoplasm 31.4 NF2 NF1 LZTR1
31 spinal canal and spinal cord meningioma 31.4 NF2 NF1 LZTR1
32 spinal cancer 31.4 NF2 NF1 LZTR1
33 spinal cord disease 31.4 NF2 NF1 AKT1
34 skull base cancer 31.3 NF2 AKT1
35 petrous apex meningioma 31.3 RDX PXN NF2 MSN EZR
36 optic nerve sheath meningioma 31.3 NF2 NF1 MSN LZTR1
37 gastrointestinal stromal tumor 31.3 SDHD NF2 NF1 EZR ERBB3 AKT1
38 cowden syndrome 31.3 SDHD NF2 NF1 AKT1
39 neurofibromatosis 31.2 SDHD RDX NF2 NF1 MSN EZR
40 plexiform neurofibroma 31.2 NF2 NF1 LZTR1 AKT1
41 neurilemmoma 31.2 RDX NF2 NF1 MSN LZTR1 EZR
42 rasopathy 31.1 NF2 NF1 LZTR1 AKT1
43 spinal cord glioma 31.1 NF2 NF1
44 neurofibromatosis, type ii 30.7 SLC9A3R1 RDX NF2 NF1 MSN LZTR1
45 brain cancer 30.5 NF2 NF1 EZR EPB41L3 CD44 AKT1
46 malignant peripheral nerve sheath tumor 30.2 NF2 NF1 CD44
47 meningioma, familial 30.1 SLC9A3R1 RDX NF2 NF1 MSN LZTR1
48 horner's syndrome 30.0 SDHD NF1
49 neurofibromatosis, type iv, of riccardi 11.2
50 schwannomatosis 1 11.2

Graphical network of the top 20 diseases related to Acoustic Neuroma:



Diseases related to Acoustic Neuroma

Symptoms & Phenotypes for Acoustic Neuroma

Human phenotypes related to Acoustic Neuroma:

58 30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neuroma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030430
2 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
3 spinal cord tumor 58 30 Frequent (33%) Frequent (79-30%)
HP:0010302
4 hyperesthesia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100963
5 myelopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002196
6 peripheral schwannoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0009593
7 intracranial meningioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0100009
8 posterior subcapsular cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0007787
9 bilateral vestibular schwannoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0009589
10 diplopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000651
11 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
12 dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002015
13 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
14 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
15 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
16 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
17 sensory neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000763
18 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
19 abnormal cerebellum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001317
20 foot dorsiflexor weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009027
21 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
22 polyneuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001271
23 retinal hamartoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009594
24 brain stem compression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002512
25 unsteady gait 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002317
26 tinnitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000360
27 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000572
28 abnormality of the optic nerve 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000587
29 wrist drop 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031189
30 postural instability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002172
31 hyperpigmentation of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000953
32 mononeuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009831
33 epiretinal membrane 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100014
34 spinal meningioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100010
35 ependymoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002888
36 cortical cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100019
37 seizure 30 Occasional (7.5%) HP:0001250
38 astrocytoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009592
39 remnants of the hyaloid vascular system 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007968
40 aphasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002381
41 seizures 58 Occasional (29-5%)
42 cranial nerve paralysis 58 Occasional (29-5%)
43 abnormality of the eye 58 Frequent (79-30%)
44 neoplasm of the skin 58 Occasional (29-5%)
45 reduced visual acuity 58 Frequent (79-30%)
46 glioma 58 Very rare (<4-1%)
47 meningioma 58 Frequent (79-30%)
48 sensory impairment 58 Occasional (29-5%)

UMLS symptoms related to Acoustic Neuroma:


back pain; coughing; headache; pain; sciatica; seizures; snoring; syncope; tinnitus; tremor; chronic pain; sore throat; vertigo/dizziness; equilibration disorder; sleeplessness

GenomeRNAi Phenotypes related to Acoustic Neuroma according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.35 ERBB3
2 Decreased viability GR00173-A 10.35 HGS
3 Decreased viability GR00221-A-1 10.35 AKT1 HGS NF1 SDHD
4 Decreased viability GR00221-A-2 10.35 AKT1 ERBB3 HGS NF1 SDHD
5 Decreased viability GR00221-A-3 10.35 AKT1 HGS
6 Decreased viability GR00221-A-4 10.35 AKT1 ERBB3 HGS NF1 SDHD
7 Decreased viability GR00249-S 10.35 AKT1 HGS NF1 SDHD
8 Decreased viability GR00301-A 10.35 ERBB3
9 Decreased viability GR00381-A-1 10.35 SDHD
10 Decreased viability GR00386-A-1 10.35 NF1
11 no effect GR00402-S-1 10.17 ABCA2 AKT1 CADM1 EPB41L3 EPOR ERBB3
12 no effect GR00402-S-2 10.17 AKT1 CD44 EPB41L3 EPOR ERBB3 EZR
13 Increased cell migration GR00055-A-1 9.46 NF1
14 Increased cell migration GR00055-A-3 9.46 NF1

MGI Mouse Phenotypes related to Acoustic Neuroma:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.4 ABCA2 AKT1 CADM1 CD44 EPB41L3 EPOR
2 growth/size/body region MP:0005378 10.38 ABCA2 AKT1 CADM1 CD44 EPOR ERBB3
3 normal MP:0002873 10.21 AKT1 CADM1 CD44 EPB41L3 EPOR ERBB3
4 cellular MP:0005384 10.21 AKT1 CADM1 CD44 EPB41L3 EPOR ERBB3
5 endocrine/exocrine gland MP:0005379 10.16 AKT1 CADM1 CD44 EPB41L3 ERBB3 ETV5
6 neoplasm MP:0002006 10.13 AKT1 CD44 EPB41L3 ERBB3 NF1 NF2
7 embryo MP:0005380 10.13 AKT1 EPOR ERBB3 ETV5 HGS NF1
8 behavior/neurological MP:0005386 10.1 ABCA2 AKT1 CADM1 CD44 EPB41L3 ERBB3
9 digestive/alimentary MP:0005381 10.06 CD44 ERBB3 EZR HGS NF1 NF2
10 cardiovascular system MP:0005385 10.06 AKT1 CD44 EPOR ERBB3 HGS LZTR1
11 respiratory system MP:0005388 9.76 AKT1 CD44 EPOR ERBB3 ETV5 MSN
12 reproductive system MP:0005389 9.73 ABCA2 AKT1 CADM1 CD44 EPB41L3 ETV5
13 mortality/aging MP:0010768 9.55 ABCA2 AKT1 CD44 EPB41L3 EPOR ERBB3

Drugs & Therapeutics for Acoustic Neuroma

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lapatinib Approved, Investigational Phase 2 231277-92-2, 388082-78-8 208908
2
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
4
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
5
Lactitol Approved, Investigational Phase 2 585-86-4, 585-88-6 157355 493591
6
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
7
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
8
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
9
Nimodipine Approved, Investigational Phase 2 66085-59-4 4497
10
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
11
Crizotinib Approved, Investigational Phase 2 877399-52-5 11626560
12 Antineoplastic Agents, Immunological Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Endostatins Phase 2
15 Mitogens Phase 2
16 Endothelial Growth Factors Phase 2
17 Cyclooxygenase Inhibitors Phase 2
18 Fibrinolytic Agents Phase 2
19 Antirheumatic Agents Phase 2
20 Platelet Aggregation Inhibitors Phase 2
21 Antipyretics Phase 2
22 Anti-Inflammatory Agents, Non-Steroidal Phase 2
23 Analgesics, Non-Narcotic Phase 2
24 Anti-Inflammatory Agents Phase 2
25 Analgesics Phase 2
26 Antimalarials Phase 1, Phase 2
27 Antiprotozoal Agents Phase 1, Phase 2
28 Antiparasitic Agents Phase 1, Phase 2
29 Pharmaceutical Solutions Phase 2
30 Antihypertensive Agents Phase 2
31 Calcium, Dietary Phase 2
32 Hormones Phase 2
33 calcium channel blockers Phase 2
34 Vasodilator Agents Phase 2
35 Gelatin Sponge, Absorbable Phase 2
36 Protein Kinase Inhibitors Phase 2
37 Immunologic Factors Phase 2
38 Immunosuppressive Agents Phase 2
39
Calcium Nutraceutical Phase 2 7440-70-2 271
40
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
41
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
42
Cetuximab Approved Phase 1 205923-56-4
43
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
44
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
45
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
46 glucocorticoids Phase 1
47 Hormone Antagonists Phase 1
48
Triamcinolone hexacetonide Phase 1
49
Triamcinolone diacetate Phase 1
50
Triamcinolone Acetonide Phase 1 6436

Interventional clinical trials:

(show top 50) (show all 99)
# Name Status NCT ID Phase Drugs
1 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With Definite Remaining Vestibular Function Withdrawn NCT02379754 Phase 4 Gentamicins
2 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With no Measurable Remaining Vestibular Function Withdrawn NCT02415257 Phase 4 Gentamicin
3 Randomized Comparison of Steretotactic Radiosurgery and Hypofractionated Steretotactic Radiotherapy in the Treatment of Vestibular Schwannoma Unknown status NCT01449604 Phase 3
4 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
5 Hearing Outcomes Using Fractionated Proton Radiation Therapy for Vestibular Schwannoma Unknown status NCT01199978 Phase 2
6 Kan tumorvækst Forudsiges Ved RGD-PET/MR af Vestibularis Schwannomer? Unknown status NCT03393689 Phase 2 One injection of 68Ga-NODAGA-E[c(RGDyK)]2
7 Icotinib Hydrochloride Tablets Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02934256 Phase 2 Icotinib
8 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
9 Phase 2 Study of Bevacizumab in Children and Adults With Neurofibromatosis Type 2 and Symptomatic Vestibular Schwannoma Completed NCT01207687 Phase 2
10 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
11 Phase II Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Completed NCT02129647 Phase 2 Axitinib
12 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
13 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
14 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2 Everolimus (RAD001) , Afinitor®
15 Phase II Study of Lapatinib in Children and Adults With Neurofibromatosis Type 2(NF2) and NF2-related Tumors Completed NCT00973739 Phase 2 Lapatinib
16 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
17 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
18 Prospective, Randomized, Placebo-Controlled Phase II Trial of Aspirin for Vestibular Schwannomas Recruiting NCT03079999 Phase 2 Aspirin;Placebo
19 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib;Neratinib
20 Doxycycline Injection of Cutaneous Schwannoma in Neurofibromatosis Type 2 Recruiting NCT05521048 Phase 1, Phase 2 Doxycycline Injection [Doxy]
21 Intraoperative Application of Nimodipine to the Facial and Cochlear Nerves During Vestibular Schwannoma Resection to Avoid Spasm-related Postoperative Facial Paralysis and Deafness - a Prospective Randomized Pilot Study Recruiting NCT04801953 Phase 2 NiMODipine Injectable Solution
22 Microscopic Fluorescence-guided Vestibular Schwannoma Resection Using Fluorescein Sodium and YELLOW 560 Recruiting NCT04351373 Phase 2 intravenous fluorescein sodium
23 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
24 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
25 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
26 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
27 A Phase II Study of Nilotinib in Growing Vestibular Schwannomas Terminated NCT01201538 Phase 2 Nilotinib
28 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
29 Triamcinolone Acetonide Levels in Cochlear Perilymph, Lateral Canal and CSF in Patients With Vestibular Schwannomas Completed NCT04658836 Phase 1 Triamcinolone Acetonide 40mg/mL
30 Penetrating Auditory Brainstem Implant for Neurofibromatosis 2 Completed NCT00030043 Phase 1
31 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
32 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
33 Phase I Trial of Super-Selective Intraarterial Cerebral Infusion of Bevacizumab (Avastin) for Treatment of Vestibular Schwannoma (Acoustic Neuroma) Suspended NCT01083966 Phase 1 Bevacizumab (Avastin)
34 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
35 Acoustic Neuroma: Assessing the Quality of Life by the Scale PANQOL of Patients Operated or Supervised Unknown status NCT04004377
36 Impact of Shared Decision-Making With Decision Aids on Acoustic Neuroma Treatment Choice: A Randomized Controlled Trial Unknown status NCT04101409
37 Evaluation of the Influence of Psychological Factors on Balance Control Compensation After Vestibular Schwannoma Surgery Unknown status NCT01743248
38 Saccular Dilatation, Endolymphatic Hydrops and Vestibular Schwannoma : is Vertigo Really Correlated to the Tumor ? A Retrospective Study Based on FIESTA-C Sequence Using a 3 Tesla MRI Unknown status NCT03593577
39 Response Prediction After Gamma Knife Surgery (GKS) in Patients With Vestibular Schwannoma Using Dynamic Contrast-Enhanced (DCE) MR Imaging Unknown status NCT03097822
40 Assessment of the Preoperative Vestibular Rehabilitation Effectiveness on Balance Control Compensation After Vestibular Schwannoma Surgery Unknown status NCT02275325
41 Consequence of Unilateral Vestibular Loss on Visual Abilities Unknown status NCT03581331
42 Vegetative Monitoring During Brainstem-associated Surgery Unknown status NCT03666507
43 Novel Multimodality Imaging Techniques for Neurosurgical Planning and Stereotactic Navigation in Lateral Skull Base Surgery: a Feasibility Study Unknown status NCT04128345
44 Protocol for Evaluating a Planning Algorithm for Gamma Knife Radiosurgery Unknown status NCT03520829
45 The Impact of Vestibular Rehabilitation on the Longitudinal Recovery of Laboratory, Clinical, and Community-Based Measures of Head and Trunk Control in People With Acquired Vestibulopathy Unknown status NCT04594057
46 Evaluation of Acupuncture Effects for Complications After Surgery of Cerebellopontine Angle Tumor in Skull Base Unknown status NCT04249921
47 Evaluation of Endoscopic-assisted Microsurgical Removal of Cerebellopontine Angle Lesions Unknown status NCT03228511
48 NF2 Natural History Consortium Unknown status NCT00004483
49 Clinical and Radiological Evaluation of Acoustic Neuromas With Spontaneous Shrinkage Unknown status NCT03970681
50 Exploration and Estimation of Intratumoral Concentration and Activity of Lapatinib in Vivo in Vestibular Schwannomas Completed NCT00863122 Early Phase 1 lapatinib

Search NIH Clinical Center for Acoustic Neuroma

Cochrane evidence based reviews: neuroma, acoustic

Genetic Tests for Acoustic Neuroma

Anatomical Context for Acoustic Neuroma

Organs/tissues related to Acoustic Neuroma:

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

Publications for Acoustic Neuroma

Articles related to Acoustic Neuroma:

(show top 50) (show all 8502)
# Title Authors PMID Year
1
Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. 53 62 5
18670066 2008
2
The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells. 53 62 5
11809806 2002
3
Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations. 53 62 5
10712203 2000
4
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. 53 62 5
8755919 1996
5
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 53 62 5
8566958 1996
6
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
7
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. 62 5
27856782 2017
8
Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. 62 5
27704245 2016
9
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
10
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype. 62 5
25931164 2015
11
Application of COLD-PCR for improved detection of NF2 mosaic mutations. 62 5
24815379 2014
12
Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma. 62 5
24030433 2014
13
Long-term follow-up of 287 meningiomas in neurofibromatosis type 2 patients: clinical, radiological, and molecular features. 62 5
22711605 2012
14
Temporal bone histopathology in neurofibromatosis type 2. 62 5
21671232 2011
15
Further genotype--phenotype correlations in neurofibromatosis 2. 62 5
19968670 2010
16
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. 62 5
18766994 2008
17
What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 62 5
18173316 2008
18
[Phenotype-genotype study in 154 French NF2 mutation carriers]. 62 5
18033041 2007
19
Screening for large mutations of the NF2 gene. 62 5
15645494 2005
20
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. 62 5
15684865 2004
21
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. 62 5
12807969 2003
22
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. 62 5
12566519 2003
23
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. 62 5
12118253 2002
24
The parental origin of new mutations in neurofibromatosis 2. 62 5
11085592 2000
25
Characterisation of 16 polymorphic markers in the NF2 gene: application to hemizygosity detection. 62 5
10220142 1999
26
NF2 gene in neurofibromatosis type 2 patients. 62 5
9817927 1998
27
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. 53 5
9718334 1998
28
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. 62 5
9643284 1998
29
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism. 62 5
9391890 1997
30
Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. 62 5
8882871 1996
31
A point mutation associated with a severe phenotype of neurofibromatosis 2. 62 5
8797533 1996
32
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. 62 5
8751853 1996
33
A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. 62 5
8757035 1996
34
Screening for germ-line mutations in the NF2 gene. 62 5
7535084 1995
35
Mutational analysis of patients with neurofibromatosis 2. 62 5
7913580 1994
36
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 62 5
8081368 1994
37
Exon scanning for mutation of the NF2 gene in schwannomas. 62 5
8012353 1994
38
DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree. 62 5
8230593 1993
39
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 62 5
8379998 1993
40
Distinct immune signature predicts progression of vestibular schwannoma and unveils a possible viral etiology. 62 41
36195959 2022
41
Cochlear Implantation for Patients with a Vestibular Schwannoma: Effect on Tinnitus Handicap. 62 41
36063093 2022
42
Proteomic analysis discovers the differential expression of novel proteins and phosphoproteins in meningioma including NEK9, HK2 and SET and deregulation of RNA metabolism. 5
30594554 2019
43
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. 5
30192042 2018
44
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
45
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
46
Genomic landscape of high-grade meningiomas. 5
28713588 2017
47
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene. 5
26066488 2015
48
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
49
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. 5
23348505 2013
50
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions. 5
21563229 2011

Variations for Acoustic Neuroma

ClinVar genetic disease variations for Acoustic Neuroma:

5 (show top 50) (show all 1115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF2 NM_000268.4(NF2):c.1079T>C (p.Leu360Pro) SNV Pathogenic
3282 rs74315492 GRCh37: 22:30067894-30067894
GRCh38: 22:29671905-29671905
2 NF2 NM_000268.4(NF2):c.240+1G>T SNV Pathogenic
Pathogenic
Pathogenic
3283 rs587776562 GRCh37: 22:30032866-30032866
GRCh38: 22:29636877-29636877
3 NF2 NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) SNV Pathogenic
3286 rs74315493 GRCh37: 22:30077457-30077457
GRCh38: 22:29681468-29681468
4 NF2 NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) SNV Pathogenic
3287 rs74315494 GRCh37: 22:30077466-30077466
GRCh38: 22:29681477-29681477
5 NF2 NM_000268.4(NF2):c.544G>T (p.Glu182Ter) SNV Pathogenic
3289 rs74315495 GRCh37: 22:30051610-30051610
GRCh38: 22:29655621-29655621
6 NF2 NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) SNV Pathogenic
3296 rs74315505 GRCh37: 22:30077432-30077432
GRCh38: 22:29681443-29681443
7 NF2 NM_000268.4(NF2):c.185T>C (p.Phe62Ser) SNV Pathogenic
3297 rs121434261 GRCh37: 22:30032810-30032810
GRCh38: 22:29636821-29636821
8 NF2 NM_000268.4(NF2):c.810+395_886-978del DEL Pathogenic
267491 GRCh37: 22:30057715-30063336
GRCh38: 22:29661726-29667347
9 NF2 NM_000268.4(NF2):c.180G>A (p.Trp60Ter) SNV Pathogenic
492893 rs780872661 GRCh37: 22:30032805-30032805
GRCh38: 22:29636816-29636816
10 NF2 NM_000268.4(NF2):c.43A>T (p.Lys15Ter) SNV Pathogenic
492891 rs1555978356 GRCh37: 22:30000030-30000030
GRCh38: 22:29604041-29604041
11 NF2 NC_000022.11:g.(?_29603989)_(29681611_?)del DEL Pathogenic
640993 GRCh37: 22:29999978-30077600
GRCh38: 22:29603989-29681611
12 NF2 NM_000268.4(NF2):c.517-92_568del DEL Pathogenic
654267 rs1601613230 GRCh37: 22:30051485-30051628
GRCh38: 22:29655496-29655639
13 NF2 NM_000268.4(NF2):c.600-2A>G SNV Pathogenic
803668 rs1601618501 GRCh37: 22:30054176-30054176
GRCh38: 22:29658187-29658187
14 NF2 NM_000268.4(NF2):c.745_752del (p.Arg249fs) DEL Pathogenic
803669 rs1601624078 GRCh37: 22:30057261-30057268
GRCh38: 22:29661272-29661279
15 NF2 NM_000268.4(NF2):c.810+2T>C SNV Pathogenic
803670 rs1601624296 GRCh37: 22:30057330-30057330
GRCh38: 22:29661341-29661341
16 NF2 NM_000268.4(NF2):c.933del (p.Ala313fs) DEL Pathogenic
803671 rs1601636894 GRCh37: 22:30064368-30064368
GRCh38: 22:29668379-29668379
17 NF2 NM_000268.4(NF2):c.1060del (p.Asp354fs) DEL Pathogenic
803673 rs1601644146 GRCh37: 22:30067873-30067873
GRCh38: 22:29671884-29671884
18 NF2 NM_000268.4(NF2):c.1229del (p.Gln410fs) DEL Pathogenic
803674 rs1601648452 GRCh37: 22:30069364-30069364
GRCh38: 22:29673375-29673375
19 NF2 NM_000268.4(NF2):c.1340+2T>G SNV Pathogenic
803675 rs1601649049 GRCh37: 22:30069477-30069477
GRCh38: 22:29673488-29673488
20 NF2 NC_000022.11:g.(?_29636741)_(29639222_?)del DEL Pathogenic
665033 GRCh37: 22:30032730-30035211
GRCh38: 22:29636741-29639222
21 NF2 NM_000268.4(NF2):c.179_185del (p.Trp60fs) DEL Pathogenic
803663 rs1601579095 GRCh37: 22:30032803-30032809
GRCh38: 22:29636814-29636820
22 NF2 NM_000268.4(NF2):c.493C>T (p.Gln165Ter) SNV Pathogenic
803666 rs1601611973 GRCh37: 22:30050691-30050691
GRCh38: 22:29654702-29654702
23 NF2 NC_000022.11:g.(?_29603999)_(29604122_?)del DEL Pathogenic
831122 GRCh37: 22:29999988-30000111
GRCh38:
24 NF2 NC_000022.11:g.(?_29603989)_(29636886_?)del DEL Pathogenic
833432 GRCh37: 22:29999978-30032875
GRCh38:
25 NF2 NM_000268.4(NF2):c.1575-2A>G SNV Pathogenic
934838 rs2067131272 GRCh37: 22:30077426-30077426
GRCh38: 22:29681437-29681437
26 NF2 NM_000268.4(NF2):c.679A>T (p.Lys227Ter) SNV Pathogenic
937475 rs2066466759 GRCh37: 22:30057197-30057197
GRCh38: 22:29661208-29661208
27 NF2 NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer) INDEL Pathogenic
970254 rs2065731800 GRCh37: 22:30035157-30035163
GRCh38: 22:29639168-29639174
28 NF2 NM_000268.4(NF2):c.432del (p.Ser143_Tyr144insTer) DEL Pathogenic
992435 rs2065831600 GRCh37: 22:30038259-30038259
GRCh38: 22:29642270-29642270
29 NF2 NC_000022.10:g.(?_29999988)_(30090791_?)del DEL Pathogenic
1070379 GRCh37: 22:29999988-30090791
GRCh38:
30 overlap with 24 genes NC_000022.10:g.(?_29083885)_(30337586_?)del DEL Pathogenic
1076222 GRCh37: 22:29083885-30337586
GRCh38:
31 NF2 NM_000268.4(NF2):c.470_479dup (p.Gly161fs) DUP Pathogenic
995901 GRCh37: 22:30050666-30050667
GRCh38: 22:29654677-29654678
32 NF2 NM_000268.4(NF2):c.1613dup (p.Leu539fs) DUP Pathogenic
995902 GRCh37: 22:30077465-30077466
GRCh38: 22:29681476-29681477
33 NF2 NM_000268.4(NF2):c.770_784del (p.Pro257_Ile261del) DEL Pathogenic
1299301 GRCh37: 22:30057285-30057299
GRCh38: 22:29661296-29661310
34 NF2 NM_000268.4(NF2):c.448-1G>A SNV Pathogenic
1319646 GRCh37: 22:30050645-30050645
GRCh38: 22:29654656-29654656
35 NF2 NM_000268.4(NF2):c.114+1G>T SNV Pathogenic
1323362 GRCh37: 22:30000102-30000102
GRCh38: 22:29604113-29604113
36 NF2 NM_000268.4(NF2):c.447+2T>C SNV Pathogenic
1329492 GRCh37: 22:30038276-30038276
GRCh38: 22:29642287-29642287
37 NF2 NM_000268.4(NF2):c.1341-1G>A SNV Pathogenic
1354127 GRCh37: 22:30070824-30070824
GRCh38: 22:29674835-29674835
38 NF2 NM_000268.4(NF2):c.1627_1628del (p.Lys543fs) DEL Pathogenic
1354329 GRCh37: 22:30077480-30077481
GRCh38: 22:29681491-29681492
39 NF2 NM_000268.4(NF2):c.999+2T>G SNV Pathogenic
1389374 GRCh37: 22:30064437-30064437
GRCh38: 22:29668448-29668448
40 NF2 NM_000268.4(NF2):c.1051del (p.Arg351fs) DEL Pathogenic
1368800 GRCh37: 22:30067866-30067866
GRCh38: 22:29671877-29671877
41 NF2 NC_000022.10:g.(?_30051485)_30051628del DEL Pathogenic
1072529 GRCh37:
GRCh38:
42 NF2 NM_000268.4(NF2):c.863C>G (p.Ser288Ter) SNV Pathogenic
870602 rs2066580454 GRCh37: 22:30061031-30061031
GRCh38: 22:29665042-29665042
43 NF2 NC_000022.11:g.(?_29603989)_(29604122_?)del DEL Pathogenic
661747 GRCh37: 22:29999978-30000111
GRCh38: 22:29603989-29604122
44 NF2 NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter) INDEL Pathogenic
998281 rs2066914171 GRCh37: 22:30070879-30070880
GRCh38: 22:29674890-29674891
45 NF2 NM_000268.4(NF2):c.1447-2del DEL Pathogenic
547707 rs1556002457 GRCh37: 22:30074183-30074183
GRCh38: 22:29678194-29678194
46 NF2 NM_000268.4(NF2):c.1490del (p.Ser497fs) DEL Pathogenic
1422073 GRCh37: 22:30074228-30074228
GRCh38: 22:29678239-29678239
47 NF2 NM_000268.4(NF2):c.599+2T>G SNV Pathogenic
1455255 GRCh37: 22:30051667-30051667
GRCh38: 22:29655678-29655678
48 NF2 NM_000268.4(NF2):c.1123-2A>G SNV Pathogenic
1455257 GRCh37: 22:30069256-30069256
GRCh38: 22:29673267-29673267
49 NF2 NM_000268.4(NF2):c.452del (p.Gly151fs) DEL Pathogenic
1455832 GRCh37: 22:30050649-30050649
GRCh38: 22:29654660-29654660
50 NF2 NM_000268.4(NF2):c.892C>T (p.Gln298Ter) SNV Pathogenic
1457060 GRCh37: 22:30064328-30064328
GRCh38: 22:29668339-29668339

Cosmic variations for Acoustic Neuroma:

8 (show top 50) (show all 157)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM84674216 SMO meninges,NS,meningioma,transitional c.1234C>T p.L412F 7:129206557-129206557 3
2 COSM95493816 NF2 meninges,NS,meningioma,transitional c.474-2A>C p.? 22:29658187-29658187 3
3 COSM102838578 NF2 meninges,NS,meningioma,transitional c.1198C>T p.Q400* 22:29673344-29673344 3
4 COSM89059113 NF2 meninges,NS,meningioma,transitional c.925G>T p.E309* 22:29673320-29673320 3
5 COSM93467546 NF2 meninges,NS,meningioma,transitional c.1198C>T p.Q400* 22:29673344-29673344 3
6 COSM89058297 NF2 meninges,NS,meningioma,transitional c.772C>T p.R258* 22:29671847-29671847 3
7 COSM102648362 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
8 COSM105101671 NF2 meninges,NS,meningioma,transitional c.448-21408C>T p.? 22:29673344-29673344 3
9 COSM102838868 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
10 COSM105102451 NF2 meninges,NS,meningioma,transitional c.447+15902A>C p.? 22:29658187-29658187 3
11 COSM93466714 NF2 meninges,NS,meningioma,transitional c.1021C>T p.R341* 22:29671847-29671847 3
12 COSM105510148 NF2 meninges,NS,meningioma,transitional c.94G>T p.E32* 22:29604092-29604092 3
13 COSM105504401 NF2 meninges,NS,meningioma,transitional c.1000-66C>T p.? 22:29671847-29671847 3
14 COSM102652773 NF2 meninges,NS,meningioma,transitional c.94G>T p.E32* 22:29604092-29604092 3
15 COSM102647025 NF2 meninges,NS,meningioma,transitional c.1021C>T p.R341* 22:29671847-29671847 3
16 COSM94453049 NF2 meninges,NS,meningioma,transitional c.898C>T p.R300* 22:29671847-29671847 3
17 COSM89037190 NF2 meninges,NS,meningioma,transitional c.552G>A p.W184* 22:29655629-29655629 3
18 COSM93476586 NF2 meninges,NS,meningioma,transitional c.241-2A>G p.? 22:29639088-29639088 3
19 COSM105101923 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
20 COSM102850125 NF2 meninges,NS,meningioma,transitional c.241-2A>G p.? 22:29639088-29639088 3
21 COSM102840809 NF2 meninges,NS,meningioma,transitional c.439C>T p.Q147* 22:29642277-29642277 3
22 COSM95504021 NF2 meninges,NS,meningioma,transitional c.115-2A>G p.? 22:29639088-29639088 3
23 COSM105103910 NF2 meninges,NS,meningioma,transitional c.447+15980G>T p.? 22:29658265-29658265 3
24 COSM93467457 NF2 meninges,NS,meningioma,transitional c.1174G>T p.E392* 22:29673320-29673320 3
25 COSM102839327 NF2 meninges,NS,meningioma,transitional c.600-2A>C p.? 22:29658187-29658187 3
26 COSM89033825 NF2 meninges,NS,meningioma,transitional c.112G>T p.E38* 22:29604110-29604110 3
27 COSM95495589 NF2 meninges,NS,meningioma,transitional c.549+1G>T p.? 22:29658265-29658265 3
28 COSM94454550 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
29 COSM92435898 NF2 meninges,NS,meningioma,transitional c.772C>T p.R258* 22:29671847-29671847 3
30 COSM102837652 NF2 meninges,NS,meningioma,transitional c.1021C>T p.R341* 22:29671847-29671847 3
31 COSM95493367 NF2 meninges,NS,meningioma,transitional c.115-2342C>G p.? 22:29636748-29636748 3
32 COSM92434948 NF2 meninges,NS,meningioma,transitional c.115-5397C>T p.? 22:29636805-29636805 3
33 COSM105100572 NF2 meninges,NS,meningioma,transitional c.448-22905C>T p.? 22:29671847-29671847 3
34 COSM89066015 NF2 meninges,NS,meningioma,transitional c.187G>A p.V63I 22:29642274-29642274 3
35 COSM94454215 NF2 meninges,NS,meningioma,transitional c.1075C>T p.Q359* 22:29673344-29673344 3
36 COSM94452265 NF2 meninges,NS,meningioma,transitional c.169C>T p.R57* 22:29636805-29636805 3
37 COSM102647941 NF2 meninges,NS,meningioma,transitional c.1174G>T p.E392* 22:29673320-29673320 3
38 COSM105114183 NF2 meninges,NS,meningioma,transitional c.241-2A>G p.? 22:29639088-29639088 3
39 COSM89064350 NF2 meninges,NS,meningioma,transitional c.94G>T p.E32* 22:29604092-29604092 3
40 COSM95492124 NF2 meninges,NS,meningioma,transitional c.895C>T p.R299* 22:29671847-29671847 3
41 COSM105505584 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
42 COSM89069978 NF2 meninges,NS,meningioma,transitional c.115-3114A>G p.? 22:29639088-29639088 3
43 COSM89035626 NF2 meninges,NS,meningioma,transitional c.115-3C>G p.? 22:29636748-29636748 3
44 COSM93468246 NF2 meninges,NS,meningioma,transitional c.600-2A>C p.? 22:29658187-29658187 3
45 COSM102649987 NF2 meninges,NS,meningioma,transitional c.439C>T p.Q147* 22:29642277-29642277 3
46 COSM105506877 NF2 meninges,NS,meningioma,transitional c.552G>A p.W184* 22:29655629-29655629 3
47 COSM105507533 NF2 meninges,NS,meningioma,transitional c.675+1G>T p.? 22:29658265-29658265 3
48 COSM89062730 NF2 meninges,NS,meningioma,transitional c.115-3022C>T p.? 22:29639180-29639180 3
49 COSM94465754 NF2 meninges,NS,meningioma,transitional c.240+2212A>G p.? 22:29639088-29639088 3
50 COSM95493089 NF2 meninges,NS,meningioma,transitional c.1072C>T p.Q358* 22:29673344-29673344 3

Copy number variations for Acoustic Neuroma from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 163629 22 29600000 32200000 Copy number NF2 Neurofibromatosis type 2

Expression for Acoustic Neuroma

Search GEO for disease gene expression data for Acoustic Neuroma.

Pathways for Acoustic Neuroma

Pathways related to Acoustic Neuroma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 RDX MSN EZR AKT1
2
Show member pathways
12.22 PXN NF1 CD44 AKT1
3 12.21 RDX PXN NF2 MSN EZR
4 11.91 EZR MSN PXN RDX
5
Show member pathways
11.86 SPTBN1 RDX MSN EZR EPB41L3
6 11.83 PXN EZR ETV5 AKT1
7 11.79 PXN CD44 AKT1
8
Show member pathways
11.63 SPTBN1 SDCBP RDX MSN EZR
9 11.55 PXN HGS AKT1
10 11.49 PXN HGS AKT1
11 11.46 PXN NF2 AKT1
12 11.44 MSN EZR CD44
13 11.39 PXN HGS AKT1
14 11.08 SDCBP NF1 EZR
15 10.94 NF2 ERBB3 AKT1
16 10.85 RDX MSN EZR ERBB3 EPOR
17 9.84 RDX MSN EZR

GO Terms for Acoustic Neuroma

Cellular components related to Acoustic Neuroma according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.65 ABCA2 AKT1 CADM1 CD44 EPB41L3 EPOR
2 membrane GO:0016021 10.65 ABCA2 CADM1 CD44 EPB41L3 EPOR ERBB3
3 cytoskeleton GO:0005856 10.29 SPTBN1 SDCBP RDX PXN NF2 MSN
4 focal adhesion GO:0005925 10.27 CD44 EZR MSN PXN RDX SDCBP
5 cell projection GO:0042995 10.22 CD44 EZR MSN NF2 RDX SLC9A3R1
6 basolateral plasma membrane GO:0016323 10.18 MSN EZR ERBB3 CD44 CADM1
7 vesicle GO:0031982 10.15 SLC9A3R1 MSN EZR AKT1
8 apical plasma membrane GO:0016324 10.15 SLC9A3R1 RDX MSN EZR ERBB3 CD44
9 adherens junction GO:0005912 10.02 EZR MSN NF2 RDX SDCBP
10 cortical actin cytoskeleton GO:0030864 10.01 SPTBN1 RDX NF2
11 microvillus membrane GO:0031528 9.93 SLC9A3R1 MSN EZR
12 apical part of cell GO:0045177 9.91 SLC9A3R1 RDX NF2 MSN EZR
13 filopodium GO:0030175 9.81 EZR MSN NF2 RDX SLC9A3R1
14 cellular anatomical entity GO:0110165 9.8 SPTBN1 RDX NF2 CD44 ABCA2
15 microvillus GO:0005902 9.65 SLC9A3R1 RDX MSN EZR CD44
16 cell periphery GO:0071944 9.32 SPTBN1 SLC9A3R1 RDX NF2 MSN EZR

Biological processes related to Acoustic Neuroma according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.31 AKT1 ERBB3 EZR HGS MSN RDX
2 actin cytoskeleton organization GO:0030036 10.18 SPTBN1 SLC9A3R1 SDCBP NF2 NF1
3 protein localization to plasma membrane GO:0072659 10.13 RDX EZR EPB41L3 SLC9A3R1 SPTBN1
4 regulation of cell shape GO:0008360 10.07 EPB41L3 EZR MSN RDX SLC9A3R1
5 positive regulation of protein localization to plasma membrane GO:1903078 10.03 AKT1 EZR SPTBN1
6 phosphatidylinositol 3-kinase signaling GO:0014065 10 NF1 ERBB3 AKT1
7 establishment of endothelial barrier GO:0061028 9.93 EZR MSN RDX
8 negative regulation of platelet-derived growth factor receptor signaling pathway GO:0010642 9.87 HGS SLC9A3R1
9 negative regulation of Schwann cell proliferation GO:0010626 9.85 NF2 NF1
10 membrane to membrane docking GO:0022614 9.81 MSN EZR
11 Schwann cell proliferation GO:0014010 9.8 NF2 NF1
12 establishment of epithelial cell apical/basal polarity GO:0045198 9.8 SLC9A3R1 MSN EZR
13 positive regulation of protein localization to early endosome GO:1902966 9.8 RDX MSN EZR
14 gland morphogenesis GO:0022612 9.65 SLC9A3R1 MSN EZR
15 positive regulation of early endosome to late endosome transport GO:2000643 9.63 RDX MSN EZR
16 regulation of cell size GO:0008361 9.5 SLC9A3R1 RDX MSN EZR
17 regulation of organelle assembly GO:1902115 9.1 RDX MSN EZR

Molecular functions related to Acoustic Neuroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.93 SPTBN1 RDX NF2 MSN EZR EPB41L3
2 cell adhesion molecule binding GO:0050839 9.65 SDCBP RDX MSN EZR CADM1
3 cytoskeletal protein binding GO:0008092 9.02 RDX NF2 MSN EZR EPB41L3

Sources for Acoustic Neuroma

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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