KEGG   DISEASE: H00119Help
Entry
H00119                      Disease                                

Name
Congenital disorders of glycosylation (CDG) type II
Description
Congenital disorders of glycosylation (CDGs) are a group of autosomal recessive disorders caused by defects in various genes for N-glycan biosynthesis. CDG type II is caused by one of the enzyme genes involved in the processing of protein bound N-glycans.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
N-Glycan biosynthesis
Gene
(CDG-IIa) MGAT2; b1-2 N-acetylglucosaminyltransferase [HSA:4247] [KO:K00736]
(CDG-IIb) GCS1; mannosyl-oligosaccharide glucosidase [HSA:7841] [KO:K01228]
(CDG-IIc) SLC35C1; GDP-fucose transporter [HSA:55343] [KO:K15279]
(CDG-IId) B4GALT1; b1-4 galactosyltransferase [HSA:2683] [KO:K07966]
(CDG-IIe) COG7; component of oligomeric golgi complex 7 [HSA:91949]
(CDG-IIf) SLC35A1; CMP-sialic acid transporter [HSA:10559] [KO:K15272]
(CDG-IIg) COG1; component of oligomeric golgi complex 1 [HSA:9382]
(CDG-IIh) COG8; component of oligomeric golgi complex 8 [HSA:84342]
(CDG-IIi) COG5; component of oligomeric golgi complex 5 [HSA:10466]
(CDG-IIj) COG4; component of oligomeric golgi complex 4 [HSA:25839]
Other DBs
Reference
PMID:11228641 (CDG type IIa)
  Authors
Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N
  Title
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
  Journal
J Med Genet 37:875-7 (2000)
Reference
PMID:10788335 (CDG type IIb)
  Authors
De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN
  Title
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
  Journal
Am J Hum Genet 66:1744-56 (2000)
Reference
PMID:11326280 (CDG type IIc)
  Authors
Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C
  Title
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
  Journal
Nat Genet 28:73-6 (2001)
Reference
PMID:11901181 (CDG type IId)
  Authors
Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C
  Title
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
  Journal
J Clin Invest 109:725-33 (2002)
Reference
PMID:17356545 (CDG type IIe)
  Authors
Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA
  Title
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
  Journal
Eur J Hum Genet 15:638-45 (2007)
Reference
PMID:15576474 (CDG type IIf)
  Authors
Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R
  Title
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
  Journal
Blood 105:2671-6 (2005)
Reference
PMID:16537452 (CDG type IIg)
  Authors
Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G
  Title
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
  Journal
Proc Natl Acad Sci U S A 103:3764-9 (2006)
Reference
PMID:17331980 (CDG type IIh)
  Authors
Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH
  Title
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
  Journal
Hum Mol Genet 16:731-41 (2007)
Reference
PMID:17220172 (CDG type IIh)
  Authors
Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, Garcia-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G
  Title
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
  Journal
Hum Mol Genet 16:717-30 (2007)
Reference
  Authors
Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T
  Title
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
  Journal
Hum Mol Genet 18:4350-6 (2009)
Reference
  Authors
Reynders E, Foulquier F, Leao Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G
  Title
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
  Journal
Hum Mol Genet 18:3244-56 (2009)
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