Classification

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
Disease name Previous name(s)Defective protein OMIM
PMM2-CDG  (CDG-Ia)Phosphomannomutase 2 601785
MPI-CDG  (CDG-Ib)Phosphomannose isomerase 602579
ALG1-CDGHMT1-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-CDGDIBD1-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-CDGGLS1-CDG (CDG-IIb)Glucosidase 1606056
MAGT1-CDG Oligosaccharyltransferase subunit300715
MGAT2-CDG  (CDG-IIa)N-acetylglucosaminyltransferase 2 602616
RFT1-CDG (CDG-In)Flippase of Man5GlcNAc2-PP-Dol611633
TUSC3-CDG  Oligosaccharyltransferase subunit TUSC3 601385

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Table 2 Defects in protein O-glycosylation
Disease name Previous nameDefective 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-CDGO-Fucose-specific β-1,3-N-acetylglucosaminyltransferase 602576
 B3GALTL-CDG   (Peters plus syndrome)  O-Fucose-specific β-1,3-glucosyltransferase 610308

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Table 3 Defects in glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Disease name
Previous nameDefective protein OMIM
ST3GAL5-CDG   (Amish infantile epilepsy) SIAT9-CDGLactosylceramide α-2,3 sialyltransferase (GM3 synthase) 609056
PIGM-CDG   (glycosylphosphatidylinositol deficiency)  Phosphatidylinositolglycan, class M 610273


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Table 4 Defects in multiple glycosylation and other pathways
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 1606973
COG4-CDG Component of conserved oligomeric Golgi complex 4606976
COG5-CDG Component of conserved oligomeric Golgi complex 5606821
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

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