KEGG   DISEASE: Congenital disorders of glycosylation (CDG) type IHelp
Entry
H00118                      Disease                                

Name
Congenital disorders of glycosylation (CDG) type I
Description
Congenital disorders of glycosylation (CDGs) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves disrupted synthesis of the lipid linked oligosaccharide precursor and its transfer to polypeptide chain of protein, affecting N-glycan assembly in cytosol and endoplasmic reticulum. An increasing number of disorders have been discovered, with many subtypes identified. PMM2-CDG is the most common form, with over 800 patients diagnosed mostly in Europe. Almost all type present in infancy. These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly, microcephaly, and pericardial effusion.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00118  Congenital disorders of glycosylation (CDG) type I
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
    H00118  Congenital disorders of glycosylation (CDG) type I
BRITE hierarchy
Pathway
hsa00510 N-Glycan biosynthesis  
 
hsa00051 Fructose and mannose metabolism  
 
hsa04141 Protein processing in endoplasmic reticulum  
 
Gene
(CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
Marker
Transferrin [HSA:7018] (The glycosylation profile shows increased amounts of disialo- and asialotransferrin.)
Other DBs
Reference
  Authors
Sparks SE
  Title
Inherited disorders of glycosylation.
  Journal
Mol Genet Metab 87:1-7 (2006)
Reference
  Authors
Marquardt T, Denecke J
  Title
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
  Journal
Eur J Pediatr 162:359-79 (2003)
Reference
PMID:12905014 (CDG type Ia)
  Authors
Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T
  Title
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
  Journal
Eur J Pediatr 162:710-3 (2003)
Reference
PMID:12414827 (CDG type Ib)
  Authors
Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N
  Title
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
  Journal
J Med Genet 39:849-51 (2002)
Reference
PMID:10359825 (CDG type Ic)
  Authors
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T
  Title
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
  Journal
Proc Natl Acad Sci U S A 96:6982-7 (1999)
Reference
PMID:15108280 (CDG type Id)
  Authors
Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T
  Title
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
  Journal
Hum Mutat 23:477-86 (2004)
Reference
PMID:12736397 (CDG type Ig)
  Authors
Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J
  Title
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
  Journal
Pediatr Res 54:224-9 (2003)
Reference
PMID:15235028 (CDG type Ih)
  Authors
Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G
  Title
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
  Journal
J Med Genet 41:550-6 (2004)
Reference
PMID:12684507 (CDG type Ii)
  Authors
Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.
  Title
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
  Journal
J Biol Chem 278:22498-505 (2003)
Reference
PMID:12872255 (CDG type Ij)
  Authors
Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
  Title
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
  Journal
Hum Mutat 22:144-50 (2003)
Reference
PMID:17273964 (CDG type Im)
  Authors
Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T
  Title
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
  Journal
Am J Hum Genet 80:433-40 (2007)
Reference
PMID:18313027 (CDG type In)
  Authors
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T
  Title
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
  Journal
Am J Hum Genet 82:600-6 (2008)
Reference
PMID:19576565 (CDG type Io)
  Authors
Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA
  Title
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
  Journal
Am J Hum Genet 85:76-86 (2009)
Reference
PMID:20080937 (CDG type Ip)
  Authors
Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Korner C
  Title
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
  Journal
Hum Mol Genet 19:1413-24 (2010)
Reference
PMID:20637498 (CDG type Iq)
  Authors
Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG
  Title
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
  Journal
Cell 142:203-17 (2010)
Reference
PMID:22305527 (CDG type Ir)
  Authors
Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR
  Title
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
  Journal
Am J Hum Genet 90:363-8 (2012)
Reference
PMID:22492991 (CDG type Is)
  Authors
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ
  Title
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
  Journal
Hum Mol Genet 21:4151-61 (2012)
Reference
PMID:23109149 (CDG type Iu)
  Authors
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ
  Title
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
  Journal
Ann Neurol 72:550-8 (2012)
Reference
PMID:23842455 (CDG type Iw, Ix)
  Authors
Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH
  Title
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
  Journal
Hum Mol Genet 22:4638-45 (2013)
Reference
PMID:17716641 (marker)
  Authors
Marklova E, Albahri Z
  Title
Screening and diagnosis of congenital disorders of glycosylation.
  Journal
Clin Chim Acta 385:6-20 (2007)
Reference
PMID:17523137 (marker)
  Authors
Sanz-Nebot V, Balaguer E, Benavente F, Neususs C, Barbosa J
  Title
Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS.
  Journal
Electrophoresis 28:1949-57 (2007)
Reference
  Authors
Haeuptle MA, Hennet T
  Title
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
  Journal
Hum Mutat 30:1628-41 (2009)
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