Disoders of N-Linked Protein Glycosylation

Disoders of N-Linked Protein Glycosylation (n = 29) ALG1-CDG (CDG-1k) ALG2-CDG (CDG-1i) ALG3-CDG (CDG-1d) ALG6-CDG (CDG-1c) ALG8-CDG (CDG-1h) ALG9-CDG (CDG-1l) ALG11-CDG (CDG-1p) ALG12-CDG (CDG-1g) ALG13-CDG (CDG-1s) ALG14-CDG B4GALT1-CDG (CDG-2d) DDOST-CDG (CDG-1r) DPAGT1-CDG (CDG-1j) FUT8-CDG GANAB-CDG MAGT1-CDG MAN1B1-CDG MAN2B2-CDG MGAT2-CDG (CDG-2a) MOGS-CDG (CDG-2b) MPI-CDG (CDG-1b) PMM2-CDG (CDG-1a) PRKCSH-CDG RFT1-CDG (CDG-1n) SSR3-CDG SSR4-CDG (CDG-1y) STT3A-CDG (CDG-1w) STT3B-CDG (CDG-1x) TUSC3-CDG Disorders of O-Linked Protein Glycosylation n =49 Disorders of O-Mannosylation n = 14 B3GALNT2-CDG B4GAT1-CDG CRPPA-CDG FKRP-CDG FKTN-CDG ISPD-CDG LARGE1-CDG POMK-CDG POMGNT1-CDG POMGNT2-CDG POMT1-CDG POMT2-CDG RXYLT1-CDG TMEM5-CDG Disorders of O-Fucosylation n = 3 B3GLCT-CDG LFNG-CDG POFUT1-CDG Disorders of Glycosaminoglycan Synthesis and O-Xylosylation n = 26 Autosomal recessive EXT2-related syndrome B3GALTL-CDG B3GALT6-CDG B3GAT3-CDG B4GALT7-CDG CANT1-CDG CHST11-CDG CHST14-CDG CHST3-CDG CHST6-CDG CHSY1-CDG CSGALNACT1-CDG DSE-CDG EXT1-CDG EXT2-CDG EXTL3-CDG Glycosaminoglycan xylosylkinase deficiency gPAPP deficiency HS6ST1-CDG HS6ST2-CDG NDST1-CDG PAPPS2 deficiency SLC10A7-CDG SLC26A2-CDG XYLT1-CDG XYLT2-CDG Other Disorders of O-linked Protein Glycosylation n = 6 C1GALT1C-CDG EOGT-CDG GALNT2-CDG GALNT3-CDG OGT-CDG POGLUT1-CDG Disorders of Lipid Glycosylation and GPI Biosynthesis n = 26 Disorders of GPI Biosynthesis n=22 GPAA1-CDG PGAP1-CDG PGAP2-CDG PGAP3-CDG PIGA-CDG PIGB-CDG PIGC-CDG PIGG-CDG PIGH-CDG PIGK-CDG PIGL-CDG PIGM-CDG PIGN-CDG PIGO-CDG PIGP-CDG PIGQ-CDG PIGS-CDG PIGT-CDG PIGU-CDG PIGV-CDG PIGW-CDG PIGY-CDG Disorders of Lipid Glycosylation n = 4 A4GALT-CDG B4GALNT1-CDG ST3GAL3-CDG ST3GAL5-CDG Disorders of Multiple Glycosylation Pathways n = 48 Disorders of Dolichol Metabolism n = 8 DHDDS-CDG DOLK-CDG (CDG-1m) DPM1-CDG (CDG-1e) DPM2-CDG (CDG-1u) DPM3-CDG (CDG-1o) MPDU1-CDG (CDG-1f) NUS1-CDG SRD5A3-CDG (CDG-1q) Disorders of Nucleotide Sugar Synthesis and Transport n = 9 CAD-CDG (CDG-1z) GMPPA-CDG GMPPB-CDG SLC35A1-CDG (CDG-2f) SLC35A2-CDG (CDG-2m) SLC35A3-CDG SLC35C1-CDG (CDG-2c) SLC35D1-CDG SLC37A4-CDG Disorders of Vesicular Trafficking n =13 COG1- CDG (CDG-2g) COG2-CDG (CDG-2q) COG4-CDG (CDG-2j) COG5-CDG (CDG-2i) COG6-CDG (CDG-2l) COG7-CDG (CDG-2e) COG8-CDG (CDG-2h) GORAB-CDG GOSR2-CDG JAGN1-CDG SEC23B-CDG TRAPPC11-CDG TRIP11-CDG VPS13B-CDG Disorders of Golgi Homeostasis n = 12 ATP6AP1-CDG ATP6AP2-CDG ATP6V0A2-CDG ATP6V1A-CDG ATP6V1E1-CDG CCDC115-CDG (CDG-2o) SLC10A7-CDG SLC39A8-CDG SLC9A7-CDG TMEM165-CDG (CDG-2k) TMEM199-CDG (CDG-2p) VMA21-CDG Other Disorders of Multiple Glycosylation Pathways n = 7 FCSK-CDG G6PC3-CDG GET4-CDG GNE-CDG PGM1-CDG (CDG-1t) PGM3-CDG NANS-CDG Other Disorders of Glycan Metabolism n = 1 NGLY1-CDDG (CDG-1v)

Total CDG identified: 155 (May 2021)

Also a disorder of golgi homeostasis Also disorder of multiple glycosylation pathways Also a disorder of N-linked glycosylation

Also a disorder of lipid glycosylation

SLC26A2- CDG SULFATE TRANSPORTER DEFICIENCY ALL CDGs ALPHABETICAL A4GALT-CDG ALG11-CDG (CDG-1p) ALG3-CDG (CDG-1d) ALG1-CDG (CDG-1k) ALG12-CDG (CDG-1g) ALG13-CDG (CDG-1s) ALG14-CDG ALG2-CDG (CDG-1i) ALG6-CDG (CDG-1c) ALG8-CDG (CDG-1h) ALG9-CDG (CDG-1l) ATP6AP1-CDG ATP6AP2-CDG ATP6V0A2-CDG ATP6V1A-CDG ATP6V1E1-CDG Autosomal recessive EXT2-related syndrome B3GALNT2-CDG B3GALT6-CDG B3GALTL-CDG B3GAT3-CDG B3GLCT-CDG B4GALNT1-CDG B4GALT1-CDG (CDG-2d) B4GALT7-CDG B4GAT1-CDG C1GALT1C-CDG CAD-CDG (CDG-1z) CANT1-CDG CCDC115-CDG (CDG-2o) CHST11-CDG CHST14-CDG CHST3-CDG CHST6-CDG CHSY1-CDG COG1- CDG (CDG-2g) COG2-CDG (CDG-2q) COG4-CDG (CDG-2j) COG5-CDG (CDG-2i) COG6-CDG (CDG-2l) COG7-CDG (CDG-2e) COG8-CDG (CDG-2h) CRPPA-CDG CSGALNACT1-CDG DDOST-CDG (CDG-1r) DHDDS-CDG DOLK-CDG (CDG-1m) DPAGT1-CDG (CDG-1j) DPM1-CDG (CDG-1e) DPM2-CDG (CDG-1u) DPM3-CDG (CDG-1o) DSE-CDG EOGT-CDG EXT1-CDG EXT2-CDG EXTL3-CDG FUK-CDG FKRP-CDG FKTN-CDG FUT8-CDG G6PC3-CDG GALNT2-CDG GALNT3-CDG GANAB-CDG GET4-CDG Glycosaminoglycan xylosylkinase deficiency GMPPA-CDG GMPPB-CDG GNE-CDG gPAPP deficiency GORAB-CDG GOSR2-CDG GPAA1-CDG HS6ST1-CDG HS6ST2-CDG ISPD-CDG JAGN1-CDG LARGE1-CDG LFNG-CDG MAGT1-CDG MAN1B1-CDG MAN2B2-CDG MGAT2-CDG (CDG-2a) MOGS-CDG (CDG-2b) MPDU1-CDG (CDG-1f) MPI-CDG (CDG-1b) NANS-CDG NDST1-CDG NGLY1-CDG (CDG-1v) NUS1-CDG OGT-CDG PGAP1-CDG PGAP2-CDG PGAP3-CDG PGM1-CDG (CDG-1t) PGM3-CDG PAPPS2 deficiency PIGA-CDG PIGB-CDG PIGC-CDG PIGG-CDG PIGH-CDG PIGK-CDG PIGL-CDG PIGM-CDG PIGN-CDG PIGO-CDG PIGP-CDG PIGQ-CDG PIGS-CDG PIGT-CDG PIGU-CDG PIGV-CDG PIGW-CDG PIGY-CDG PMM2-CDG (CDG-1a) POFUT1-CDG POGLUT1-CDG POMGNT1-CDG POMGNT2-CDG POMK-CDG POMT1-CDG POMT2-CDG PRKCSH-CDG RFT1-CDG (CDG-1n)