En autosomalt dominant sjukdom kännetecknad av en hög incidens av dubbelsidiga hörselnervsneurom och tillika schwannom (neurilemmom) i andra kranial- eller perifera nerver, samt andra godartade intrakraniella tumörer, inkl. meningom, ependymom, ryggmärgsneurofibrom och gliom. Sjukdomen har satts i samband med mutationer i NF2-genen på kromosom 22 (22q12) och debuterar som regel kliniskt under livets två första årtionden.
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.
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Neurofibromatosis, Central, NF2 — Neurofibromatosis, Central, NF 2 — Bilateral Acoustic Neurofibromatosis — Acoustic Neurofibromatoses, Bilateral — Acoustic Neurofibromatosis, Bilateral — Bilateral Acoustic Neurofibromatoses — Neurofibromatoses, Bilateral Acoustic — Neurofibromatosis, Bilateral Acoustic — Neurofibromatosis II — Neurofibromatosis IIs — Neurofibromatosis, central type — Neurofibromatosis Type 2 — Neurofibromatosis, Type II — Neurofibromatoses, Type II — Type II Neurofibromatoses — Type II Neurofibromatosis — Neurofibromatosis, Type 2 — Neurofibromatoses, Type 2 — Type 2 Neurofibromatoses — Type 2 Neurofibromatosis — NF2 (Neurofibromatosis 2) — NF2s (Neurofibromatosis 2) — Neurofibromatosis, Central NF2 — Central NF2 Neurofibromatoses — Central NF2 Neurofibromatosis — Neurofibromatoses, Central NF2 — Central Neurofibromatosis — Central Neurofibromatoses — Neurofibromatoses, Central — Neurofibromatosis, Central — Neurofibromatosis, Acoustic, Bilateral — Neurofibromatosis Type II — Neuroma, Acoustic, Bilateral — Acoustic Neurinoma, Bilateral — Acoustic Neurinomas, Bilateral — Bilateral Acoustic Neurinoma — Bilateral Acoustic Neurinomas — Neurinoma, Bilateral Acoustic — Neurinomas, Bilateral Acoustic — Schwannoma, Acoustic, Bilateral — Acoustic Schwannomas, Bilateral — Acoustic Schwannoma, Bilateral — Bilateral Acoustic Schwannoma — Bilateral Acoustic Schwannomas — Schwannoma, Bilateral Acoustic — Schwannomas, Bilateral Acoustic — Familial Acoustic Neuromas — Acoustic Neuroma, Familial — Acoustic Neuromas, Familial — Familial Acoustic Neuroma — Neuroma, Familial Acoustic — Neuromas, Familial Acoustic