Miller-Dieker Syndrome
Watchlist
Retrieved
2022-04-26
Source
Trials
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Genes
PAFAH1B1,
YWHAE,
HIC1,
MNT,
FANCB,
DCX,
FANCF,
FANCD2,
UBE2T,
SBDS,
PALB2,
ERCC4,
CTC1,
FANCA,
FANCC,
FANCM,
BRIP1,
MAD2L2,
BLM,
SLX4,
FANCE,
FANCL,
FANCG,
XRCC2,
RAD51,
RAD51C,
BRCA2,
BRCA1,
FANCI,
DPH1
PAFAH1B1,
YWHAE,
HIC1,
MNT,
FANCB,
DCX,
FANCF,
FANCD2,
UBE2T,
SBDS,
PALB2,
ERCC4,
CTC1,
FANCA,
FANCC,
FANCM,
BRIP1,
MAD2L2,
BLM,
SLX4,
FANCE,
FANCL,
FANCG,
XRCC2,
RAD51,
RAD51C,
BRCA2,
BRCA1,
FANCI,
DPH1,
TP53,
SGCE,
RUNX1,
EPO,
FLT3,
SF3B1,
CD34,
KMT2A,
BCR,
RPS14,
RN7SL263P,
MECP2,
JAK2,
CSF3,
BCL2L10,
PLCB1,
DDX41,
GFI1,
NPM1,
U2AF1,
PIGA,
DAPK1,
ASXL1,
CDKN1C,
CCR7,
CDKN2B,
DERL1,
LINC01194,
MECOM,
CSF2,
IKBKG,
CCL28,
MSC,
CDR3,
ABCG2,
ESPL1,
SGCZ,
PDIK1L,
YY1,
CTAG1A,
COL6A4P1,
MIR21,
WT1,
WNT1,
UBE3A,
PSC,
U2AF1L5,
H3P9,
TLR2,
TK2,
THBS1,
STUB1,
MRPL28,
CIB1,
ATG7,
QRSL1,
SYT1,
LSM2,
TET2,
PRDM16,
PLCE1,
GORASP1,
NXT1,
WNK1,
DLL1,
DNAI1,
INTS1,
SETBP1,
PIGN,
PRAME,
BAALC,
TBC1D9,
PARK7,
CHEK2,
NDEL1,
SUB1,
SEPTIN9,
SLC12A9,
TCF4,
ABL1,
STAT3,
HLTF,
DCK,
TOR1A,
EZH2,
FGF1,
FLT1,
GATA2,
GEM,
GSTM1,
GSTT1,
GZMB,
HFE,
HIF1A,
HOXD13,
HRAS,
HSPA9,
CYP2B6,
CUX1,
CTNNB1,
CD14,
APAF1,
ATM,
CCND1,
BCL2,
CAMP,
CBL,
CD33,
CTAG1B,
CD38,
CDKN1A,
CDKN1B,
CDKN2A,
CD52,
CRK,
HTC2,
IL2,
IL2RA,
PTEN,
ABCB1,
ABR,
PLCG1,
PLK1,
MAPK8,
PSMB6,
RAP1GAP,
NRAS,
RARA,
RELA,
ROBO2,
SCN4A,
SCT,
SRSF2,
NUP98,
NCAM1,
CXCL8,
MCL1,
CXCR2,
IRF1,
ISG20,
ITGB4,
KIR3DL1,
KRAS,
MLF1,
NBN,
MMP1,
MMP9,
CD200,
MPV17,
MT1E,
MVD,
H3P10
Drugs
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Registered!
Miller-Dieker syndrome (MDS) is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood. MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p). Most cases are not inherited and occur randomly. In some cases, it is caused by inheriting a chromosome rearrangement (balanced translocation) from an unaffected parent. Treatment is based on the symptoms in each person and aims to prevent complications and control seizures.