Neurofibromatosis Type 2

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

NF2, NF1, SMARCB1, LZTR1, EZR, ACTB, CDKN2A, BAP1, VEGFA, RAC1, YAP1, PAK1, TP53, NEFH, EPB41L3, ETV5, PTGS2, PIK3CA, PGR, MIR296, CD44, CXCR4, MSN, COX8A, MDM2, CTNNB1, MIB1, TCHP, DNMT1, IL17RA

NF2, NF1, SMARCB1, LZTR1, EZR, ACTB, CDKN2A, BAP1, VEGFA, RAC1, YAP1, PAK1, TP53, NEFH, EPB41L3, ETV5, PTGS2, PIK3CA, PGR, MIR296, CD44, CXCR4, MSN, COX8A, MDM2, CTNNB1, MIB1, TCHP, DNMT1, IL17RA, TAZ, AMOT, MIR152, VHL, SAV1, AJUBA, TIMP3, SYK, CADM1, STAT3, SST, SRC, SMS, SMARCE1, IGLL5, SGK1, SRSF5, GOPC, SLC17A6, VTN, FBLIM1, CABIN1, WWC1, LATS2, SIRT2, MORC2, RASSF1, POSTN, PDLIM5, SEMA3F, DCAF1, MSC, HGS, SOCS2, SHANK3, EIF3C, TEAD2, RSS, AGO2, BIN2, BMS1P20, PRKAR1A, RDX, ELF4, CCN1, HTC2, HARS1, MTOR, FLT1, FASN, ESR1, ERBB2, EPO, EPHA1, ENG, EGFR, IL1B, EGF, ATN1, DNMT3A, CYP19A1, CCN2, CRYBB3, CRYBB2, CAPN5, BRCA1, BCR, BCL2, IGLV@, IL10, PXN, PEBP1, PTPRJ, PTGDS, MAP2K2, MAP2K1, AREG, PLG, PLAT, PIK3CG, PIK3CD, PIK3CB, SERPINE1, NHS, KDR, NEDD8, COX2, MTAP, MN1, MKI67, MEN1, MEFV, LRP6, LIMK2, LIMK1, LIF, MTCO2P12

Drugs

N-hydroxy-4-(3-methyl-2-(S)-phenyl-butyrylamino)benzamide

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Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Childhood symptoms include skin growths and eye findings. Almost all people with NF2 develop vestibular schwannomas affecting both ears by age 30. Other tumors of the central nervous system (the brain and spinal cord), skin and eye are also common. The signs and symptoms vary from person to person. The severity depends on the size, location, and number of tumors. NF2 is caused by changes (mutations) in the NF2 gene and is inherited in an autosomal dominant manner. It is diagnosed based on a clinical examination and the symptoms. Genetic testing may be helpful. The treatment is based on managing the signs and symptoms and may include surgery and medications.