Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P43146 (tumour suppressor)
 5,935 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old woman who presented with hearing loss and tinnitus was found to have reduced vision bilaterally. Computed tomography scan revealed bilateral acoustic neuromas and bilateral optic nerve sheath meningiomas. The presence of bilateral acoustic neuromas fulfils the criteria for the diagnosis of central neurofibromatosis (neurofibromatosis type 2). Although this is the first report of bilateral optic nerve sheath meningioma in neurofibromatosis type 2, meningiomas are commoner in this dominantly inherited disorder, than in its absence and both forms of central nervous system tumour may be caused by loss of tumour suppressor genes on chromosome 22.
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PMID:Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. 139 May 17