Table 2.
| CDG subtype with skeletal anomalies | IDD | Protein name | Treatable |
|---|---|---|---|
| ALG1 (OMIM#608540) | Yes | GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase | Unknown |
| ALG3 (OMIM#601110) | Yes | Dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase | Unknown |
| ALG6 (OMIM#603147) | Yes | Dolichol-P-glucose:Man9GlcNAc2-PP-dolichol glucosyltransferase | Unknown |
| ALG8 (OMIM#608104) | Yes | Dolichol-P-glucose: Glc1Man9GlcNAc2-PP-dolichol- α1,3-glucosyltransferase | Unknown |
| ALG9 (OMIM#608776) | Yes | Dolichol-P-mannose:α1,2 mannosyltransferase | Unknown |
| ALG12 (OMIM#607143) | Yes | Dolichol-P-mannose: Man7GlcNAc2-PP-dolichol mannosyltransferase | Unknown |
| ALG13 (OMIM#300884) | Yes | UDP-GlcNAc:dolichol pyrophosphate N-acetylglucosamine transferase (cytosolic) | Unknown |
| ATP6V0A2 (OMIM#278250) a | Yes | The multisubunit vacuolar-type proton pump (H(+)-ATPase or V-ATPase) | Unknown |
| B3GALT6 (OMIM#271640, #615349) | No | Beta-1,3-galactosyltransferase 6 | Unknown |
| B3GALTL (OMIM#261540) | Yes | O-fucose-specific beta-1,3-N-glucosyltransferase | Unknown |
| B3GAT3 (OMIM#284139) | No | Beta-1,3-glucoronyltransferase 3 | Unknown |
| B4GALNT1 (OMIM#609195) | Yes | Beta-1,4-N-acetylgalactosaminyltransferase 1 | Unknown |
| B4GALT7 (OMIM#130070) | Yes | Golgi UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase | Unknown |
| CHSY1 (OMIM#605282) | Yes | Chondroitin sulfate synthase 1 | Unknown |
| COG1 (OMIM#611209) | Yes | Subunit 1 of the COG complex in Golgi trafficking | Unknown |
| COG7 (OMIM#608779) | Yes | Subunit 7 of the COG complex in Golgi trafficking | Unknown |
| COG8 (OMIM#611182) | Yes | Subunit 8 of the COG complex in Golgi trafficking | Unknown |
| DDOST (OMIM#614507, #602202) | Yes | Subunit DDOST of the OST complex | Unknown |
| DPAGT1 (OMIM#608093) | Yes | UDP-GlcNAc:dolichol-phosphate-N-Acetylglucosamine-1-phosphotransferase | Unknown |
| DPM1 (OMIM#608799) | Yes | GDP-Man:Dol-P mannosyltransferase subunit 1 | Unknown |
| DPM2 (OMIM#615042) | No | Dolichol-P-mannose synthase-2 | Unknown |
| EXT1 (OMIM#133700) | No | Exostosin glycosyltransferase 1 | Unknown |
| EXT2 (OMIM#133701) | No | Exostosin glycosyltransferase 2 | Unknown |
| FKTN (OMIM#253800) | Yes | Fukutin | Unknown |
| FKRP (OMIM#613153) | Yes | Fukutin-related protein | Unknown |
| GMPPB (OMIM#615350, #615351, #615352) | Yes | GDP-mannose pyrophosphorylase subunit B | Unknown |
| LFNG (OMIM#609813) | No | O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase | Unknown |
| MPDU1 (OMIM#79323) | Yes | Dol-P-Man utilization 1 | Unknown |
| MGAT2 (OMIM#212066) | Yes | Golgi N-acetyl-glucosaminyltransferase II | Unknown |
| MOGS (OMIM#606056) | Yes | Endoplasmic reticulum glucosidase I | Unknown |
| NUS1 (OMIM#617082) | Yes | Subunit of cis-prenyltransferase (cis-PTase) | Unknown |
| PGM3 (OMIM#615816, #172100) | Yes | Phosphoglucomutase 3 | Unknown |
| PIGA (OMIM#300868, #300818) | No | Phosphatidylinositol glycan anchor class A protein | Unknown |
| PIGL (OMIM#280000) | Yes | Phosphatidylinositol glycan anchor biosynthesis class L protein | Unknown |
| PIGT (OMIM#615398) | Yes | Phosphatidylinositol glycan anchor biosynthesis class T protein | Unknown |
| PIGY (OMIM#239200)4 | Yes | Phosphatidylinositol glycan, class V | Unknown |
| PMM2 (OMIM#212065) a | Yes | Phosphomannomutase 2 | Unknown |
| POMT1 (OMIM#236670, #613555, #609308) | Yes | O-mannosyltransferase 1 | Unknown |
| POMT2 (OMIM#613150, #613156, #613158) | Yes | O-mannosyltransferase 2 | Unknown |
| SLC35A3 (OMIM#615553) | Yes | Solute carrier family 35 (udp-N-acetylglucosamine transporter), member 3 | Unknown |
| SLC35C1 (OMIM#266265) | Yes | GDP-fucose transporter | Yes (fucose) |
| SLC39A8 (OMIM#616721) | Yes | SLC39A8 transporter of divalent cations, including manganese (Mn), zinc (Zn), cadmium (Cd), and iron (Fe) | Yes (dietary galactose) |
| SRD5A3 (OMIM#612379) | No | Steroid 5 alpha-reductase 3 | Unknown |
| SSR4 (OMIM#300934) | Yes | Signal sequence receptor 4 protein of the TRAP complex | Unknown |
| TMEM165 (OMIM#614727, #614726) | Yes | TMEM165 (TPARL) protein | Yes (dietary galactose) |
| TRAPPC11 (OMIM#615356) | Yes | Trafficking protein particle complex, subunit 11 | Unknown |
| VPS13B (OMIM#21655) | Yes | Vacuolar protein sorting 13B, VPS13B | Unknown |
| XYLT1 (OMIM#615777) | Yes | Xylosyltransferase 1 | Unknown |
| XYLT2 (OMIM#605822) | No | Xylosyltransferase 2 | Unknown |
a
CDGs in which sialic acid plays a role.
1
IEMbase v.2.0.0. Available online at: http://www.iembase.org/index.asp.
2
OMIM: Online Mendelian Inheritance in Man. Available online at https://www.omim.org/.