Schwannomatosis, Vestibular (SWNV)

前庭神经鞘瘤(来自ICD-11)

别称:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

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.

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