Classification of Congenital Disorders of Glycosylation with the novel nomenclature as of 2009
(Last updated : 12 Nov 2009)
- Table 1 Defects in protein N-glycosylation
- Table 2 Defects in protein O-glycosylation
- Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- Table 4 Defects in multiple glycosylation and other pathways
| Disease name | Previous name(s) | Defective protein | OMIM |
|---|---|---|---|
| PMM2-CDG | (CDG-Ia) | Phosphomannomutase 2 | 601785 |
| MPI-CDG | (CDG-Ib) | Phosphomannose isomerase | 602579 |
| ALG1-CDG | HMT1-CDG (CDG-Ik) | GDP-Man : GlcNAc2-P-P-Dol mannosyltransferase (mannosyltransferase 1) | 608540 |
| ALG2-CDG | (CDG-Ii) | GDP-Man : Man1-GlcNAc2-P-P-Dol mannosyltransferase (mannosyltransferase 2) | 607906 |
| ALG3-CDG | NOT56L-CDG (CDG-Id) | Dol-P-Man : Man5-GlcNAc2-P-P-Dol mannosyltransferase (mannosyltransferase 6) | 601110 |
| ALG6-CDG | (CDG-Ic) | Dol-P-Glc : Man9-GlcNAc2-P-P-Dol glucosyltransferase (glucosyltransferase 1) | 603147 |
| ALG8-CDG | (CDG-Ih) | Dol-P-Man : Man7-GlcNAc2-P-P-Dol mannosyltransferase (mannosyltransferase 8) | 608104 |
| ALG9-CDG | DIBD1-CDG (CDG-IL) | Dol-P-Man : Man6-and Man8-GlcNA2-P-P-Dol mannosyltransferase (mannosyltransferase 7-9) | 608776 |
| ALG12-CDG | (CDG-Ig) | Dol-P-Man : Man7-GlcNAc2-P-P-Dol mannosyltransferase (mannosyltransferase 8) | 607143 |
| DPAGT1-CDG | (CDG-Ij) | UDP-GlcNAc : Dol-P-GlcNAc-P transferase | 608093 |
| GCS1-CDG | GLS1-CDG (CDG-IIb) | Glucosidase 1 | 606056 |
| MAGT1-CDG | Oligosaccharyltransferase subunit | 300715 | |
| MGAT2-CDG | (CDG-IIa) | N-acetylglucosaminyltransferase 2 | 602616 |
| RFT1-CDG | (CDG-In) | Flippase of Man5GlcNAc2-PP-Dol | 611633 |
| TUSC3-CDG | Oligosaccharyltransferase subunit TUSC3 | 601385 |
| Disease name | Previous name | Defective protein | OMIM |
|---|---|---|---|
*O-xylosylglycan synthesis | |||
| EXT1/EXT2-CDG (multiple cartilaginous exotoses) | Glucuronyltransferase / N-acetylglucosaminyltransferase β-1,4-galactosyltransferase 7 | 608177 / 608210 | |
| B4GALT7-CDG | ß-1,4-galactosyltransferase 7 | 604327 | |
*O-N-acetylgalactosaminylglycan synthesis | |||
| GALNT3-CDG (familial tumoral calcinosis) | Polypeptide N-acetylgalactosaminyltransferase 3 | 601756 | |
*O-xylosyl / N-acetylgalactosaminylglycan synthesis | |||
| SLC35D1-CDG (Schneckenbecken dysplasia) | Solute carrier family 35 (UDP-glucuronic acid / UDP-N-acetylgalactosamine dual transporter), member D1 | 610804 | |
| *O-mannosylglycan synthesis | |||
| POMT1/POMT2-CDG (cong. muscular dystrophy spectrum) | O-mannosyltransferase 1 | 607423 | |
| POMGNT1-CDG (cong. muscular dystrophy spectrum) | O-mannose β-1,2-N-acetylglucosaminyltransferase | 606822 | |
| FKTN-CDG (cong. muscular dystrophy spectrum) | Fukutin | 607440 | |
| FKRP-CDG (cong. muscular dystrophy spectrum) | Fukutin-related protein | 606596 | |
| LARGE-CDG (cong. muscular dystrophy spectrum) | N-Acetylglucosaminyltransferase-like protein | 603590 | |
| *O-fucosylglycan synthesis | |||
| LFNG-CDG (spondylocostal dysostosis type 3) | SCDO3-CDG | O-Fucose-specific β-1,3-N-acetylglucosaminyltransferase | 602576 |
| B3GALTL-CDG (Peters plus syndrome) | O-Fucose-specific β-1,3-glucosyltransferase | 610308 |
| Disease name | Previous name | Defective protein | OMIM |
|---|---|---|---|
| ST3GAL5-CDG (Amish infantile epilepsy) | SIAT9-CDG | Lactosylceramide α-2,3 sialyltransferase (GM3 synthase) | 609056 |
| PIGM-CDG (glycosylphosphatidylinositol deficiency) | Phosphatidylinositolglycan, class M | 610273 |
| Disease name | Previous name | Defective protein | OMIM |
|---|---|---|---|
| DPM1-CDG | (CDG-Ie) | GDP-Man:Dol-P-mannosyltransferase (Dol-P-Man synthase 1) | 603503 |
| MPDU1-CDG | (CDG-If) | Lec35 (Man-P-Dol utilization 1) | 608799 |
| B4GALT1-CDG | (CDG-IId) | β-1,4-galactosyltransferase 1 | 607091 |
| GNE-CDG (hereditary inclusion body myopathy) | UDP-GlcNAc epimerase/kinase | 600737 | |
| SLC35A1-CDG (CMP-sialic acid transporter deficiency) | (CDG-IIf) | CMP-sialic acid transporter | 605634 |
SLC35C1-CDG (GDP-fucose transporter deficiency) | (CDG-IIc) | GDP-fucose transporter | 605881 |
| *Dolichol pathway | | ||
| DK1-CDG | (CDG-Im) | Dolichol kinase | 610768 |
| *COG complex (Conserved Oligomeric Golgi) | | ||
| COG1-CDG | (CDG-IIg) | Component of conserved oligomeric Golgi complex 1 | 606973 |
| COG4-CDG | Component of conserved oligomeric Golgi complex 4 | 606976 | |
| COG5-CDG | Component of conserved oligomeric Golgi complex 5 | 606821 | |
| COG7-CDG | (CDG-IIe) | Component of conserved oligomeric Golgi complex 7 | 606978 |
| COG8-CDG | Component of conserved oligomeric Golgi complex 8 | 606979 | |
| *V-ATPase | |||
| ATP6V0A2-CDG defect (cutis laxa type II) | V0 subunit A2 of vesicular H(+)-ATPase | 611716 | |
| SEC23B-CDG (CDAII) | COPII component SEC23B | 610512 |