vestibular schwannomatosis (DOID:0111252)
Alliance: disease page
Synonyms: ACN; acoustic neurofibromatosis; BANF; bilateral acoustic neurinoma; bilateral acoustic neurofibromatosis; bilateral acoustic schwannomas; central neurofibromatosis; familial acoustic neuromas; neurofibromatosis 2; neurofibromatosis type II; NF2; NF2-related schwannomatosis; schwannomatosis 3; SWN3; SWNV
Alt IDs: OMIM:101000, ICD10CM:Q85.02, MESH:D016518, NCI:C3274, ORDO:637, UMLS_CUI:C0027832
Definition: A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.