From OMIMSchwannomatosis-1 (SWN1) is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve. Affected individuals may also have multiple meningiomas (summary by Bacci et al., 2010).
Schwannomatosis, also known as neurilemmomatosis, was first reported by Niimura (1973) as neurofibromatosis type 3.
Genetic Heterogeneity of Schwannomatosis
See also schwannomatosis-2 (615670), conferred by germline heterozygous mutation in the LZTR1 gene (600574) on chromosome 22q11.
Individual schwannoma tumors from patients with schwannomatosis have been found to harbor somatic mutations in the SMARCB1.
http://www.omim.org/entry/162091