KEGG   DISEASE: Congenital disorders of glycosylation (CDG) type IIHelp
Entry
H00119                      Disease                                

Name
Congenital disorders of glycosylation (CDG) type II
Description
Congenital disorders of glycosylation (CDGs) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG-II is defined by mutations in genes encoding enzymes in the processing of N-glycans on the glycosylated proteins either late in the endoplasmic reticulum or the Golgi compartments. Multiple subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe psychomotor retardation, no peripheral neuropathy and a cerebellar hypoplasia. According to the serum transferrin glycoform, a portion of CDG-II can be diagnosed. Distinct from CDG-I,  the serum trisialo- and asialotransferrin are increased in CDG-II.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00119  Congenital disorders of glycosylation (CDG) type II
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E77  Disorders of glycoprotein metabolism
    H00119  Congenital disorders of glycosylation (CDG) type II
BRITE hierarchy
Pathway
N-Glycan biosynthesis
Gene
(CDG-IIa) MGAT2 [HSA:4247] [KO:K00736]
(CDG-IIb) GCS1 [HSA:7841] [KO:K01228]
(CDG-IIc) SLC35C1 [HSA:55343] [KO:K15279]
(CDG-IId) B4GALT1 [HSA:2683] [KO:K07966]
(CDG-IIe) COG7 [HSA:91949] [KO:K20294]
(CDG-IIf) SLC35A1 [HSA:10559] [KO:K15272]
(CDG-IIg) COG1 [HSA:9382] [KO:K20288]
(CDG-IIh) COG8 [HSA:84342] [KO:K20295]
(CDG-IIi) COG5 [HSA:10466] [KO:K20292]
(CDG-IIj) COG4 [HSA:25839] [KO:K20291]
(CDG-IIk) TMEM165 [HSA:55858]
(CDG-IIl) COG6 [HSA:57511] [KO:K20293]
(CDG-IIm) SLC35A2 [HSA:7355] [KO:K15272]
(CDG-IIn) SLC39A8 [HSA:64116] [KO:K14714]
(CDG-IIo) CCDC115 [HSA:84317]
(CDG-IIp) TMEM199 [HSA:147007]
Marker
Transferrin [HSA:7018] (The glycosylation profile shows increased amounts of trisialo- and asialo-transferrin.)
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
PMID:19690088 (CDG type IIi)
  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
PMID:19494034 (CDG type IIj)
  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)
Reference
PMID:22683087 (CDG type IIk)
  Authors
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G
  Title
TMEM165 deficiency causes a congenital disorder of glycosylation.
  Journal
Am J Hum Genet 91:15-26 (2012)
Reference
PMID:23430903 (CDG type IIl)
  Authors
Huybrechts S, De Laet C, Bontems P, Rooze S, Souayah H, Sznajer Y, Sturiale L, Garozzo D, Matthijs G, Ferster A, Jaeken J, Goyens P
  Title
Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.
  Journal
JIMD Rep 4:103-8 (2012)
Reference
PMID:23561849 (CDG type IIm)
  Authors
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH
  Title
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
  Journal
Am J Hum Genet 92:632-6 (2013)
Reference
PMID:26637979 (CDG type IIn)
  Authors
Park JH, Hogrebe M, Gruneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hortnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T
  Title
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
  Journal
Am J Hum Genet 97:894-903 (2015)
Reference
PMID:26833332 (CDG type IIo)
  Authors
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ
  Title
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
  Journal
Am J Hum Genet 98:310-21 (2016)
Reference
PMID:26833330 (CDG type IIp)
  Authors
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ
  Title
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
  Journal
Am J Hum Genet 98:322-30 (2016)
Reference
PMID:10571011 (description)
  Authors
Schachter H, Jaeken J
  Title
Carbohydrate-deficient glycoprotein syndrome type II.
  Journal
Biochim Biophys Acta 1455:179-92 (1999)
Reference
PMID:7944531 (description)
  Authors
Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G
  Title
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
  Journal
Arch Dis Child 71:123-7 (1994)
Reference
PMID:11701646 (marker)
  Authors
Jaeken J, Matthijs G
  Title
Congenital disorders of glycosylation.
  Journal
Annu Rev Genomics Hum Genet 2:129-51 (2001)
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