Congenital disorders of glycosylation (CDG) 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.
カテゴリ
先天性代謝異常症
階層分類
ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
代謝疾患
先天性代謝異常
5C54 グリコシル化またはその他の明示されたタンパク質修飾の先天性異常
H00119 先天性グリコシル化異常症 II 型
パスウェイに基づく疾患分類 [BR:jp08402]
糖鎖･糖タンパク質代謝
nt06015 N-グリカンの生合成
H00119 先天性グリコシル化異常症 II 型
nt06035 血液型糖鎖抗原の生合成
H00119 先天性グリコシル化異常症 II 型
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
タイトル
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA
タイトル
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R
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Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
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
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Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
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
タイトル
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
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
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
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
タイトル
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ
タイトル
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM
タイトル
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Wilson MP, Durin Z, Unal O, Ng BG, Marrecau T, Keldermans L, Souche E, Rymen D, Gunduz M, Kose G, Sturiale L, Garozzo D, Freeze HH, Jaeken J, Foulquier F, Matthijs G
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CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Linders PTA, Gerretsen ECF, Ashikov A, Vals MA, de Boer R, Revelo NH, Arts R, Baerenfaenger M, Zijlstra F, Huijben K, Raymond K, Muru K, Fjodorova O, Pajusalu S, Ounap K, Ter Beest M, Lefeber D, van den Bogaart G
タイトル
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
