Hypertrophic Neuropathy Of Dejerine-Sottas

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Retrieved

2022-04-26

Source

Gard

Trials

—

Genes

PMP22, MPZ, EGR2, PRX, GJB1, AMACR, RFC1, KIF1B, NEFL, COX6A1, MTMR2, GARS1, FIG4, MFN2, SLC12A6, NDRG1, DYNC1H1, GDAP1, DHTKD1, SH3TC2, SBF2, LRSAM1, LMNA, FGD4, COL2A1, TNF, RNMT, IL10, IL6, MPO

PMP22, MPZ, EGR2, PRX, GJB1, AMACR, RFC1, KIF1B, NEFL, COX6A1, MTMR2, GARS1, FIG4, MFN2, SLC12A6, NDRG1, DYNC1H1, GDAP1, DHTKD1, SH3TC2, SBF2, LRSAM1, LMNA, FGD4, COL2A1, TNF, RNMT, IL10, IL6, MPO, IL1B, IL17A, PTGS2, MAD2L1BP, IFNG, HLA-A, PLCE1, CCL2, GABPA, NR0B1, NFE2L2, PLAU, TLR2, COX2, TAP1, GORASP1, WNK1, NLRP3, SYT1, RBM45, RELA, OCLN, S100A9, MTCO2P12, CBLIF, BCL2, HLA-DRB1, CTNNB1, CASP3, CXCL1, CBFA2T3, FGL2, DSTN, RIPK3, DUSP10, HP, RUNX1, HPSE, SIRT1, ZNF281, SEC14L2, RUNX2, NOX1, LPIN1, IGF2BP1, NOX4, IVNS1ABP, NXF1, TLR6, ENTPD1, TNFSF15, CD68, CDH1, CHRM3, SCAF11, CLDN2, CMA1, PILRA, IL23A, ANGPTL4, CAT, LINC02210-CRHR1, RAB4B-EGLN2, ANGPT2, MIR146B, MIR155, IMMP1L, ARG1, ARNTL, IL17F, EGLN2, BCL3, KLF5, HM13, ZBP1, TSPO, TRPM8, C3, IL25, VPS51, TPSB2, CALCA, MRTFA, MYDGF, CASP1, CLDN4, NR1I2, USO1, SOCS1, MMP10, ESR1, PLCB4, PTK2B, ABCB1, NTRK1, NFKBIA, FCGR3A, FLNB, MUC2, GAS6, MT1A, GPR4, MMP9, NR4A1, MMP3, MICB, MEFV, CYP4F3, GPX2, ITGA1, IDO1, IL18, IL12B, HGF, HLA-B, IL1RN, MAPK3, MAPK8, EGFR, AKT1, SLC7A5, VEGFA, VDR, UCP2, TTR, TPSAB1, CLDN3, TLR4, CRH, TJP1, TAP2, CRHR1, STAT3, SOX9, HLTF, SLC22A4, SLC3A2, CCL11, CUX1, S100A12, CYBB, S100A8, DECR1, NQO1, PXMP2, PTPN11

Drugs

2-[N-(2-hydroxyethyl)]-N-(4-methoxybenzenesulfonyl)]amino-N-(4-chlorocinnamyl)-N-methylbenzylamine, Sephin1

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Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4. Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.