Neurofibromatosis Type 1

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

NF1, SPRED1, NF2, RASA1, CDKN2A, TP53, PTPN11, KIT, BRAF, RET, RGS6, PDGFRA, SDHD, MRC1, EGFR, VHL, PIK3CA, MAP2K7, SDHB, HRAS, MTOR, SUZ12, PTEN, SMUG1, GH1, MLH1, PIK3CG, PIK3CD, PIK3CB, ERBB2

NF1, SPRED1, NF2, RASA1, CDKN2A, TP53, PTPN11, KIT, BRAF, RET, RGS6, PDGFRA, SDHD, MRC1, EGFR, VHL, PIK3CA, MAP2K7, SDHB, HRAS, MTOR, SUZ12, PTEN, SMUG1, GH1, MLH1, PIK3CG, PIK3CD, PIK3CB, ERBB2, PAK1, NRAS, EVI2A, APRT, MFAP1, KRAS, MSH6, EPHB2, OMG, DPYSL2, MSH2, GFAP, NGFR, MAPK1, BLVRB, THRA, ALK, S100B, IDH1, CXCL12, ATRX, HOXB2, CCND1, MDK, HGF, HOXB@, HOXB1, HOXB3, VCP, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, NGF, S100A1, RUNX1, TNFRSF11B, PMS2, EGF, BTF3P11, SPP1, CD38, NME1, CCL5, SDHC, TGFB1, SST, STAT3, PGR, LRRC37B, SOX9, CDKN2B-AS1, IDH2, UTP6, TPT1, MEN1, PACC1, KITLG, CD274, SGSM3, RNMT, MPZ, HTC2, TNF, EED, CXCR4, NFIC, NFIX, SMARCB1, H3P10, BMP2, CDC42, APOBEC1, EVI2B, BRCA1, ATM, FGFR1, BCL2, EPAS1, CRYBA1, HSF1, CTNNB1, BRCA2, PROM1, HSD17B6, IQGAP1, CCN5, AR, WASF1, PICALM, LRRC37A, SNAP91, OLIG2, SPRY1, MRVI1, CITED2, CIB1, CELF1, ALDH1L1, IKBKG, TNC, KMT2D, TOP2A, TFPI, TG, CAMP, CALM3, THY1, TIA1, TIAL1, CALM2, TNXB, TOP1, CALM1, FGF23, TSC2, TTN, TYK2, USF1, VARS1, VDR, VEGFB, BMPR1A, ZMYM2, IMMT, METAP2, TLK2, SDS, LRRC37A3, RNF135, FHDC1, DNER, AMPD1, ESCO1, NMS, RSS, AKT1, THSD7A, HSR, MEX3D, ATAD5, MIR10B, MIR125A, MIR204, NF1P2, LRRC37A2, KIR2DL5B, MIR641, ADM, DUX4, NF1P1, DHDDS, TBL1XR1, TCP1, LRRC37A4P, RASSF1, ZHX2, CIC, SHROOM2, APP, PRPF31, CNNM4, HIPK2, APOB, BCL11A, CRTAC1, KMT2C, BIRC5, FBXW7, ADAP2, ANPEP, CHPT1, KIR2DL5A, RPTOR, KIAA1549, RNF213, LSM2, TERT, CD14, CNTN2, CCN3, G6PD, FOLH1, MYH2, FN1, FMR1, NFIA, NFIB, FOXG1, FH, FAP, ETV5, TBX1, NTRK3, ESR1, EREG, SERPINE1, ERBB4, PAX6, PAX7, EPHB1, PGD, PGF, GC, MMP13, GDNF, MGMT, GSTP1, IGF1R, CCN1, CXCL10, JAK2, GRN, GNRH1, LBR, LIF, MXD1, SMAD1, SMAD4, MAF, MAGEB2, MATN2, MCAM, GNA12, MDM2, GLI1, GHSR, GHR, ENO2, ADCY8, ELK3, RPS6KB1, CREB1, SCN5A, CRABP2, CGA, CFTR, CEL, CEBPD, SH3BP2, SKI, SLC6A2, SLC6A4, SMARCA2, CDKN1B, SMS, SORD, SOS1, CDK4, SOX10, SRY, CD19, AURKA, RYR1, RPS6KA1, EIF4EBP1, RHEB, PKD1, PLG, SERPINF2, PMP22, DUSP6, PNMT, POMC, PTPA, PRKAR1A, DUSP1, MAPK3, MAPK8, SARDH, PTCH1, DIAPH2, PTN, DACH1, PTPRC, RAF1, RASA2, CSF3, ASIC2

Drugs

Mirdametinib, Selumetinib

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Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (café-au-lait spots), benign growths along the nerves (neurofibromas), and freckles in the underarm and groin. Other symptoms may include colored spots in the eye (Lisch nodules), curvature of the spine, learning disabilities, and an increased risk for cancer. The number of neurofibromas typically increases over time, and some can get large or turn cancerous and need to be removed. The severity and symptoms can vary greatly from person to person. This condition is caused by genetic changes (DNA variants) in the NF1 gene and is inherited in an autosomal dominant pattern. NF1 is diagnosed based on a clinical examination, the specific signs and symptoms, and genetic testing. Treatment is based on the signs and symptoms present in each person.