KEGG   DISEASE: H00118Help
エントリ  
H00118                                                             

名称    
先天性グリコシル化異常症 I 型;
Congenital disorders of glycosylation (CDG) type I
概要    
先天性グリコシル化異常症(CDG)は、N結合型糖鎖合成に関わる遺伝子欠損による疾患である。I 型CDGは糖鎖の転移に関わる遺伝子欠損による糖鎖異常である。
カテゴリ  
先天代謝異常症
BRITE hierarchy
パスウェイ 
N-グリカンの生合成
フルクトースとマンノースの代謝
病因遺伝子 
(CDG-Ia) PMM2; phosphomannomutase 2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI; mannose phosphate isomerase [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6; a1-3 glucosyltransferase [HSA:29929] [KO:K03848]
(CDG-Id) ALG3; a1-3 mannosyltransferase [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1; P-dolichol mannosyltransferase [HSA:8813] [KO:K00721]
(CDG-If) MPDU1; mannose-P-dolichol utilization defect 1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12; a1-6 mannosyltransferase [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8; a1-3 glucosyltransferase [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2; a1-3/6 mannosyltransferase [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7; P-dolichol N-acetylglucosaminephosphotransferase [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1; b1-4 mannosyltransferase [HSA:56052] [KO:K03842]
(CDG-IL) ALG9; a1-2 mannosyltransferase [HSA:79796] [KO:K03846]
(CDG-Im) DOLK; dolichol kinase [HSA:22845] [KO:K00902]
(CDG-In) RFT1; oligosaccharidyl-lipid flippase [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]
リンク   
文献    
  著者
Sparks SE
  タイトル
Inherited disorders of glycosylation.
  雑誌
Mol Genet Metab 87:1-7 (2006)
文献    
  著者
Marquardt T, Denecke J
  タイトル
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
  雑誌
Eur J Pediatr 162:359-79 (2003)
文献    
PMID:12905014 (CDG type Ia)
  著者
Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T
  タイトル
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
  雑誌
Eur J Pediatr 162:710-3 (2003)
文献    
PMID:12414827 (CDG type Ib)
  著者
Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N
  タイトル
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
  雑誌
J Med Genet 39:849-51 (2002)
文献    
PMID:10359825 (CDG type Ic)
  著者
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T
  タイトル
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
  雑誌
Proc Natl Acad Sci U S A 96:6982-7 (1999)
文献    
PMID:15108280 (CDG type Id)
  著者
Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T
  タイトル
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).
  雑誌
Hum Mutat 23:477-86 (2004)
文献    
PMID:12736397 (CDG type Ig)
  著者
Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J
  タイトル
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
  雑誌
Pediatr Res 54:224-9 (2003)
文献    
PMID:15235028 (CDG type Ih)
  著者
Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G
  タイトル
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
  雑誌
J Med Genet 41:550-6 (2004)
文献    
PMID:12684507 (CDG type Ii)
  著者
Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C.
  タイトル
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
  雑誌
J Biol Chem 278:22498-505 (2003)
文献    
PMID:12872255 (CDG type Ij)
  著者
Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH
  タイトル
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
  雑誌
Hum Mutat 22:144-50 (2003)
文献    
PMID:17273964 (CDG type Im)
  著者
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
  タイトル
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
  雑誌
Am J Hum Genet 80:433-40 (2007)
文献    
PMID:18313027 (CDG type In)
  著者
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T
  タイトル
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
  雑誌
Am J Hum Genet 82:600-6 (2008)
文献    
  著者
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
  タイトル
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
  雑誌
Am J Hum Genet 85:76-86 (2009)
文献    
  著者
Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Korner C
  タイトル
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.
  雑誌
Hum Mol Genet 19:1413-24 (2010)
文献    
  著者
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
  タイトル
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
  雑誌
Cell 142:203-17 (2010)

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