| H00119 | |
| H番号 | H00119 |
| 名称 | 先天性グリコシル化異常症 II 型 |
| 概要 | 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 |
| ネットワーク | nt06015 N-Glycan biosynthesis nt06035(H00119) Blood group carbohydrate antigen biosynthesis |
| 病因遺伝子 | (CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) GCS1 [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C54.0 ICD-10: E77.8 MeSH: D018981 OMIM: 212066 606056 266265 607091 603585 608779 611209 611182 613612 613489 614727 614576 300896 616721 616828 616829 617395 301045 300972 618885 619493 619525 620200 620201 620454 |
| 文献 | PMID:7944531 著者 Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G タイトル Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. 雑誌 Arch Dis Child 71:123-7 (1994) DOI:10.1136/adc.71.2.123 PMID:10571011 著者 Schachter H, Jaeken J タイトル Carbohydrate-deficient glycoprotein syndrome type II. 雑誌 Biochim Biophys Acta 1455:179-92 (1999) DOI:10.1016/S0925-4439(99)00054-X PMID:11701646 著者 Jaeken J, Matthijs G タイトル Congenital disorders of glycosylation. 雑誌 Annu Rev Genomics Hum Genet 2:129-51 (2001) DOI:10.1146/annurev.genom.2.1.129 PMID:11228641 (CDG2A) 著者 Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N タイトル Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. 雑誌 J Med Genet 37:875-7 (2000) DOI:10.1136/jmg.37.11.875 PMID:10788335 (CDG2B) 著者 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. 雑誌 Am J Hum Genet 66:1744-56 (2000) DOI:10.1086/302948 PMID:11326280 (CDG2C) 著者 Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C タイトル Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 雑誌 Nat Genet 28:73-6 (2001) DOI:10.1038/88299 PMID:11901181 (CDG2D) 著者 Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C タイトル Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. 雑誌 J Clin Invest 109:725-33 (2002) DOI:10.1172/JCI14010 PMID:17356545 (CDG2E) 著者 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. 雑誌 Eur J Hum Genet 15:638-45 (2007) DOI:10.1038/sj.ejhg.5201813 PMID:15576474 (CDG2F) 著者 Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R タイトル Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. 雑誌 Blood 105:2671-6 (2005) DOI:10.1182/blood-2004-09-3509 PMID:16537452 (CDG2G) 著者 Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G タイトル Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. 雑誌 Proc Natl Acad Sci U S A 103:3764-9 (2006) DOI:10.1073/pnas.0507685103 PMID:17220172 (CDG2H) 著者 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 タイトル A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. 雑誌 Hum Mol Genet 16:717-30 (2007) DOI:10.1093/hmg/ddl476 PMID:19690088 (CDG2I) 著者 Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T タイトル Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. 雑誌 Hum Mol Genet 18:4350-6 (2009) DOI:10.1093/hmg/ddp389 PMID:19494034 (CDG2J) 著者 Reynders E, Foulquier F, Leao Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G タイトル Golgi function and dysfunction in the first COG4-deficient CDG type II patient. 雑誌 Hum Mol Genet 18:3244-56 (2009) DOI:10.1093/hmg/ddp262 PMID:22683087 (CDG2K) 著者 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 タイトル TMEM165 deficiency causes a congenital disorder of glycosylation. 雑誌 Am J Hum Genet 91:15-26 (2012) DOI:10.1016/j.ajhg.2012.05.002 PMID:23430903 (CDG2L) 著者 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 タイトル Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. 雑誌 JIMD Rep 4:103-8 (2012) DOI:10.1007/8904_2011_79 PMID:23561849 (CDG2M) 著者 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 タイトル Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 雑誌 Am J Hum Genet 92:632-6 (2013) DOI:10.1016/j.ajhg.2013.03.012 PMID:26637979 (CDG2N) 著者 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. 雑誌 Am J Hum Genet 97:894-903 (2015) DOI:10.1016/j.ajhg.2015.11.003 PMID:26833332 (CDG2O) 著者 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 タイトル CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. 雑誌 Am J Hum Genet 98:310-21 (2016) DOI:10.1016/j.ajhg.2015.12.010 PMID:26833330 (CDG2P) 著者 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. 雑誌 Am J Hum Genet 98:322-30 (2016) DOI:10.1016/j.ajhg.2015.12.011 PMID:24784932 (CDG2Q) 著者 Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H タイトル Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. 雑誌 Clin Genet 87:455-60 (2015) DOI:10.1111/cge.12417 PMID:29127204 (CDG2R) 著者 Rujano MA, Cannata Serio M, Panasyuk G, Peanne R, Reunert J, Rymen D, Hauser V, Park JH, Freisinger P, Souche E, Guida MC, Maier EM, Wada Y, Jager S, Krogan NJ, Kretz O, Nobre S, Garcia P, Quelhas D, Bird TD, Raskind WH, Schwake M, Duvet S, Foulquier F, Matthijs G, Marquardt T, Simons M タイトル Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. 雑誌 J Exp Med 214:3707-3729 (2017) DOI:10.1084/jem.20170453 PMID:27231034 (CDG2S) 著者 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. 雑誌 Nat Commun 7:11600 (2016) DOI:10.1038/ncomms11600 PMID:27508872 (CDG2T) 著者 Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noe E, Patel P, Ho SP, Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ タイトル Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents. 雑誌 Cell Metab 24:234-45 (2016) DOI:10.1016/j.cmet.2016.07.012 PMID:34143952 (CDG2V) 著者 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. 雑誌 Am J Hum Genet 108:1342-1349 (2021) DOI:10.1016/j.ajhg.2021.05.010 PMID:32884905 (CDG2W) 著者 Marquardt T, Bzduch V, Hogrebe M, Rust S, Reunert J, Gruneberg M, Park J, Callewaert N, Lachmann R, Wada Y, Engel T タイトル SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation. 雑誌 Mol Genet Metab Rep 25:100636 (2020) DOI:10.1016/j.ymgmr.2020.100636 PMID:32395830 (CDG2Y) 著者 Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR, Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH タイトル Mutations in GET4 disrupt the transmembrane domain recognition complex pathway. 雑誌 J Inherit Metab Dis 43:1037-1045 (2020) DOI:10.1002/jimd.12249 PMID:35262690 (CDG2Z) 著者 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 タイトル CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking. 雑誌 Hum Mol Genet 31:2571-2581 (2022) DOI:10.1093/hmg/ddac055 PMID:34711829 (CDG2AA) 著者 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. 雑誌 Nat Commun 12:6227 (2021) DOI:10.1038/s41467-021-26534-y |