| H00118 | |
| H番号 | H00118 |
| 名称 | 先天性グリコシル化異常症 I 型 |
| 概要 | Congenital disorders of glycosylation (CDG) 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06015 N-Glycan biosynthesis |
| 病因遺伝子 | (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-It) PGM1 [HSA:5236] [KO:K01835] (CDG-Iu) DPM2 [HSA:8818] [KO:K09658] (CDG-Iv) NGLY1 [HSA:55768] [KO:K01456] (CDG-Iw) STT3A [HSA:3703] [KO:K07151] (CDG-Ix) STT3B [HSA:201595] [KO:K07151] (CDG-Iy) SSR4 [HSA:6748] [KO:K04571] (CDG-Iaa) NUS1 [HSA:116150] [KO:K19177] (CDG-Ibb) DHDDS [HSA:79947] [KO:K11778] (CDG-Icc) MAGT1 [HSA:84061] [KO:K19478] |
| 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: 212065 602579 603147 601110 608799 609180 607143 608104 607906 608093 608540 608776 610768 612015 612937 613661 612379 614507 300884 614921 615042 615273 615596 615597 300934 617082 613861 301031 |
| 文献 | PMID:16511948 著者 Sparks SE タイトル Inherited disorders of glycosylation. 雑誌 Mol Genet Metab 87:1-7 (2006) DOI:10.1016/j.ymgme.2005.11.004 PMID:12756558 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) DOI:10.1007/s00431-002-1136-0 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) DOI:10.1007/s00431-003-1278-8 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) DOI:10.1136/jmg.39.11.849 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) DOI:10.1073/pnas.96.12.6982 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) DOI:10.1002/humu.20026 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) DOI:10.1203/01.PDR.0000072327.55955.F7 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) DOI:10.1136/jmg.2003.016923 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) DOI:10.1074/jbc.M302850200 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) DOI:10.1002/humu.10239 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) DOI:10.1086/512130 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) DOI:10.1016/j.ajhg.2007.12.021 PMID:19576565 (CDG type Io) 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) DOI:10.1016/j.ajhg.2009.06.006 PMID:20080937 (CDG type Ip) 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) DOI:10.1093/hmg/ddq016 PMID:20637498 (CDG type Iq) 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) DOI:10.1016/j.cell.2010.06.001 PMID:22305527 (CDG type Ir) 著者 Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR タイトル DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 雑誌 Am J Hum Genet 90:363-8 (2012) DOI:10.1016/j.ajhg.2011.12.024 PMID:22492991 (CDG type Is) 著者 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 タイトル Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 雑誌 Hum Mol Genet 21:4151-61 (2012) DOI:10.1093/hmg/dds123 PMID:23109149 (CDG type Iu) 著者 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 タイトル DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 雑誌 Ann Neurol 72:550-8 (2012) DOI:10.1002/ana.23632 PMID:23842455 (CDG type Iw, Ix) 著者 Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH タイトル Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 雑誌 Hum Mol Genet 22:4638-45 (2013) DOI:10.1093/hmg/ddt312 PMID:17716641 著者 Marklova E, Albahri Z タイトル Screening and diagnosis of congenital disorders of glycosylation. 雑誌 Clin Chim Acta 385:6-20 (2007) DOI:10.1016/j.cca.2007.07.002 PMID:17523137 著者 Sanz-Nebot V, Balaguer E, Benavente F, Neususs C, Barbosa J タイトル Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS. 雑誌 Electrophoresis 28:1949-57 (2007) DOI:10.1002/elps.200600648 PMID:19862844 著者 Haeuptle MA, Hennet T タイトル Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 雑誌 Hum Mutat 30:1628-41 (2009) DOI:10.1002/humu.21126 PMID:24218363 (CDG type Iy) 著者 Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH タイトル A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 雑誌 Hum Mol Genet 23:1602-5 (2014) DOI:10.1093/hmg/ddt550 PMID:25066056 (CDG type Iaa) 著者 Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, Hansikova H, Honzik T, Zeman J, Hulkova H, Wen R, Kmoch S, Sessa WC タイトル Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. 雑誌 Cell Metab 20:448-57 (2014) DOI:10.1016/j.cmet.2014.06.016 PMID:24499211 著者 Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T タイトル Multiple phenotypes in phosphoglucomutase 1 deficiency. 雑誌 N Engl J Med 370:533-42 (2014) DOI:10.1056/NEJMoa1206605 PMID:27343064 著者 Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE タイトル A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 雑誌 Orphanet J Rare Dis 11:84 (2016) DOI:10.1186/s13023-016-0468-1 PMID:31036665 著者 Blommaert E, Peanne R, Cherepanova NA, Rymen D, Staels F, Jaeken J, Race V, Keldermans L, Souche E, Corveleyn A, Sparkes R, Bhattacharya K, Devalck C, Schrijvers R, Foulquier F, Gilmore R, Matthijs G タイトル Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. 雑誌 Proc Natl Acad Sci U S A 116:9865-9870 (2019) DOI:10.1073/pnas.1817815116 |