Neurofibromatosis

Watchlist

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Retrieved

2022-04-26

Source

GARD

Trials

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Genes

NF1, NF2, APC, CDKN2A, TP53, PTPN11, BRAF, EGFR, PAK1, S100B, KRAS, MDK, NFIC, SPRED1, NGF, PDGFRA, FN1, TOP2A, PDGFRB, SOX9, MLH1, VEGFA, RET, S100A1, EED, KIT, SUZ12, SMUG1, CCND1, CDKN2B

NF1, NF2, APC, CDKN2A, TP53, PTPN11, BRAF, EGFR, PAK1, S100B, KRAS, MDK, NFIC, SPRED1, NGF, PDGFRA, FN1, TOP2A, PDGFRB, SOX9, MLH1, VEGFA, RET, S100A1, EED, KIT, SUZ12, SMUG1, CCND1, CDKN2B, FGF2, EGF, ZNRD2, MIR339, MIR10B, TGFB1, TGFA, MIR210, MIR34A, CNTN2, AURKA, STAT3, SST, SPP1, TLE1, SNF8, SMARCB1, SMARCA2, SDHD, SDHC, CDKN2B-AS1, SDHB, TMED7-TICAM2, H3P23, NKX2-1, TICAM2, SPRY1, CD274, RGS6, DCTN6, IKBKG, FGF23, CXCR4, CXCL12, NES, ZMYM2, WT1, VHL, GADL1, TMED7, ATAD5, VDR, AZIN2, ESCO1, USF1, TTN, BRD4, IMMT, ALDH1A1, SERPINF2, SCN5A, EVI2B, GSTP1, GRN, CXCR3, GNA12, GHSR, G6PD, FOLH1, MLANA, FOXG1, FAP, EZH2, ERBB2, HGF, EPHB2, CTNNB1, CDK4, CDC42, CD44, CD38, RUNX1, BTF3P11, ATRX, ATM, AR, MSH6, NRG1, RASA1, PAX6, PTN, PSMD9, MAP2K7, MAPK1, PRKAR1A, PPARD, PLG, PKD1, PIK3CA, PGR, PDGFA, SERPINE1, IFI27, TNFRSF11B, NTRK3, NFIX, NFIB, NFIA, MMP13, MEN1, MDM2, LEP, LBR, IGF1R, H3P10

Drugs

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Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms:

Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth.

Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years.

Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type.

All three types of NF are inherited in an autosomal dominant manner. There is no cure for NF. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy, and/or medicines.