Neurofibromatosis 2

An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.

Also Known As:

Neurofibromatosis Type II; Bilateral Acoustic Neurofibromatosis; Neurofibromatosis Type 2; Neurofibromatosis II; Familial Acoustic Neuroma; Type II Neurofibromatosis; Schwannoma, Acoustic, Bilateral; Acoustic Neurinoma, Bilateral; Acoustic Schwannomas, Bilateral; Central Neurofibromatosis; Familial Acoustic Neuromas; NF2 (Neurofibromatosis 2); Neurofibromatosis, Central NF2; Neurofibromatosis, Central, NF 2; Neurofibromatosis, Type 2; Neurofibromatosis, Type II; Neurofibromatosis, central type; Acoustic Neurinomas, Bilateral; Acoustic Neurofibromatoses, Bilateral; Acoustic Neurofibromatosis, Bilateral; Acoustic Neuroma, Familial; Acoustic Neuromas, Familial; Acoustic Schwannoma, Bilateral; Bilateral Acoustic Neurinoma; Bilateral Acoustic Neurinomas; Bilateral Acoustic Neurofibromatoses; Bilateral Acoustic Schwannoma; Bilateral Acoustic Schwannomas; Central NF2 Neurofibromatoses; Central NF2 Neurofibromatosis; Central Neurofibromatoses; NF2s (Neurofibromatosis 2); Neurinoma, Bilateral Acoustic; Neurinomas, Bilateral Acoustic; Neurofibromatoses, Bilateral Acoustic; Neurofibromatoses, Central; Neurofibromatoses, Central NF2; Neurofibromatoses, Type 2; Neurofibromatoses, Type II; Neurofibromatosis IIs; Neurofibromatosis, Bilateral Acoustic; Neurofibromatosis, Central; Neuroma, Familial Acoustic; Neuromas, Familial Acoustic; Schwannoma, Bilateral Acoustic; Schwannomas, Bilateral Acoustic; Type 2 Neurofibromatoses; Type 2 Neurofibromatosis; Type II Neurofibromatoses; Neurofibromatosis, Acoustic, Bilateral; Neurofibromatosis, Central, NF2; Neuroma, Acoustic, Bilateral

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Neurofibromatoses: 821
    - Neurofibromatosis 2: 708
- Neoplasms by Histologic Type: 2
  - Germ Cell and Embryonal Neoplasms: 4454
    - Neuroectodermal Tumors: 217
      - Neuroendocrine Tumors: 6270
        Neurilemmoma: 2180
        Acoustic Neuroma: 1857
        Neurofibromatosis 2: 708
  - Nerve Tissue Neoplasms: 1
    - Nerve Sheath Neoplasms: 273
      - Neuroma: 1274
        Neurilemmoma: 2180
        Acoustic Neuroma: 1857
        Neurofibromatosis 2: 708
      - Neurofibroma: 844
        Neurofibromatoses: 821
        Neurofibromatosis 2: 708
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Retrocochlear Diseases: 5
    - Vestibulocochlear Nerve Diseases: 23
      - Acoustic Neuroma: 1857
        Neurofibromatosis 2: 708
- Otorhinolaryngologic Neoplasms: 10
  - Acoustic Neuroma: 1857
    - Neurofibromatosis 2: 708
Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis 2: 708
- Cranial Nerve Diseases: 554
  - Vestibulocochlear Nerve Diseases: 23
    - Acoustic Neuroma: 1857
      - Neurofibromatosis 2: 708
  - Cranial Nerve Neoplasms: 3
    - Acoustic Neuroma: 1857
      - Neurofibromatosis 2: 708
- Neurocutaneous Syndromes: 262
  - Neurofibromatoses: 821
    - Neurofibromatosis 2: 708
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Neurofibromatoses: 821
      - Neurofibromatosis 2: 708
  - Nervous System Heredodegenerative Disorders: 63
    - Neurofibromatoses: 821
      - Neurofibromatosis 2: 708

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Drug/Important Bio-Agent (IBA)