Congenital Disorder Of Glycosylation
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
PMM2,
SRD5A3,
MPI,
SLC35A2,
MOGS,
DPM1,
DOLK,
MPDU1,
SLC35A1,
FCSK,
ALG1,
MAGT1,
SRD5A3-AS1,
TMEM165,
PGM1,
COG8,
ALG6,
COG6,
ALG3,
ALG9,
PGM3,
ALG8,
DPAGT1,
MAN1B1,
COG7,
COG5,
APOC3,
MGAT2,
ALG12,
DPM3
PMM2,
SRD5A3,
MPI,
SLC35A2,
MOGS,
DPM1,
DOLK,
MPDU1,
SLC35A1,
FCSK,
ALG1,
MAGT1,
SRD5A3-AS1,
TMEM165,
PGM1,
COG8,
ALG6,
COG6,
ALG3,
ALG9,
PGM3,
ALG8,
DPAGT1,
MAN1B1,
COG7,
COG5,
APOC3,
MGAT2,
ALG12,
DPM3,
SLC35C1,
SERPINA1,
LEMD3,
ALPI,
ALPP,
ATP6V0A2,
ALG11,
SLC39A8,
STT3B,
MAN1A1,
GOLPH3,
CD47,
STT3A,
IAPP,
DHDDS,
RFT1,
ALG2,
PGAP3,
NUS1P3,
COG2,
GFM1,
SLC35A3,
POFUT2,
CCDC115,
NUS1,
PGAP1,
ALG13,
CSGALNACT1,
TRAPPC11,
GRIN3A,
AGA,
RXYLT1,
IGF1,
GPI,
B4GALT1,
FUT8,
FXN,
F11,
SLC26A3,
DLD,
DDOST,
DCN,
DAG1,
SERPINA6,
BGN,
BCHE,
ATP6AP1,
SERPINC1,
APRT,
APOB,
HP,
IGFBP5,
MGAM,
ITGB2,
ST3GAL5,
DPM2,
TUSC3,
AKR1B1,
TF,
SSR4,
SSR3,
ST3GAL3,
SI,
RNASE4,
RAB1A,
PYCR1,
ATXN3,
MFAP1,
LAMP2,
LAMP1,
LAD1,
PGR-AS1
Drugs
(2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl)-4-fluoropyrrolidine-2-carboxamide,
15-amino-acid macrocyclic peptide acylated with a polyethyleneglycol palmitoylated linker,
4-{(2S,4S)-4-ethoxy-1-[(5-methoxy-7-methyl-1H-indol-4-yl)methyl]piperidin-2-yl}benzoic acid-hydrogen chloride(1/1)
(2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl)-4-fluoropyrrolidine-2-carboxamide,
15-amino-acid macrocyclic peptide acylated with a polyethyleneglycol palmitoylated linker,
4-{(2S,4S)-4-ethoxy-1-[(5-methoxy-7-methyl-1H-indol-4-yl)methyl]piperidin-2-yl}benzoic acid-hydrogen chloride(1/1),
Coversin,
Eculizumab
(
SOLIRIS
),
Fc- and CDR-modified humanised monoclonal antibody against C5
(
ULTOMIRIS
),
Liposomal mannose-1-phosphate,
Myristoylated-peptidyl-recombinant Human CD59,
N-acetyl-D-mannosamine monohydrate,
PEGylated peptide inhibitor of complement C3,
Palovarotene,
S3,S13-cyclo(D-tyrolsyl-L-isoleucyl-L-cysteinyl-L-valyl-1-methyl-L-tryptophyl-L-glutaminyl-L-aspartyl-L-tryptophyl-N-methyl-L-glycyl-L-alanyl-L-histidyl-L-arginyl-L-cysteinyl-N-methyl-L-isoleucinamide),
Sialic acid
Registered!
A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.