Schwannomatosis, Vestibular (SWNV)

Alias:
Neurofibromatosis 2
Neurofibromatosis Type 2
Nf2
Neurofibromatosis Type Ii
Neurofibromatosis, Type 2
Bilateral Acoustic Neurofibromatosis
Central Neurofibromatosis
Neurofibromatosis, Central Type
Nf2-Related Schwannomatosis
Familial Acoustic Neuromas
Schwannomatosis, Somatic
Schwannomatosis 3
Swnv
Swn3
Banf
Bilateral Acoustic Neurofibromatosis, Formerly
Acoustic Schwannomas, Bilateral, Formerly
Acoustic Neurinoma, Bilateral, Formerly
Nonmosaic Nf2-Related Schwannomatosis
Nonmosaic Neurofibromatosis Type 2
Full Nf2-Related Schwannomatosis
Nf2 - [neurofibromatosis Type 2]
Neurofibromatosis Type 2 Merlin
Schwannoma, Acoustic, Bilateral
Bilateral Acoustic Schwannomas
Familial Vestibular Schwannoma
Full Neurofibromatosis Type 2
Bilateral Acoustic Neurinoma
Neurofibromatosis, Type Ii
Vestibular Schwannomatosis
Acoustic Neurofibromatosis
Familial Acoustic Neuroma
Banf, Formerly
Acn, Formerly
Full Nf2
Acn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schwannomatosis, Vestibular, also known as neurofibromatosis 2, is related to malignant peripheral nerve sheath tumor and benign meningioma, and has symptoms including ataxia, headache and tinnitus. An important gene associated with Schwannomatosis, Vestibular 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 Lactitol and Axitinib have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and eye, and related phenotypes are neuroma and sensorineural hearing impairment
Related ID:
MESH:D016518
ICD11:14808714

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
23
195
185

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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