Dejerine-Sottas Syndrome
Watchlist
Retrieved
2021-01-23
Source
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
Registered!
A clinical entity that represents a severe phenotype of Charcot-Marie-Tooth disease characterized by onset occurring in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (< 10-12 m/s), areflexia and foot deformity. Mutations in the genes PMP22 (17p12), MPZ (1q22), EGR2 (10q21.1) and PRX (19q13.2) have been implicated.