KEGG   DISEASE: 先天性グリコシル化異常症 I 型Help
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、脂質オリゴ糖前駆体の生合成および新生タンパク質への転移に関わる酵素の遺伝子変異によって起こる。その結果サイトゾルや小胞体における N 結合型糖鎖の付加に影響を及ぼす。多くの原因遺伝子が確認されており、その数はまだ増え続けている。PMM2-CDG は最も多く 800例以上と推測され、主にヨーロッパで見られる疾患である。ほとんどの患者は乳児である。本疾患は精神運動発達遅滞、筋緊張低下、てんかん、肝機能障害、心嚢液貯留・心筋症など多様な症状を示す。
カテゴリ  
先天代謝異常症
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性糖質・糖タンパク質代謝異常症
   H00118  先天性グリコシル化異常症I型
ICD-10 による疾患分類 [BR:jp08403]
 4. 内分泌, 栄養及び代謝疾患 (E00-E90)
  E70-E90  代謝障害
   E77  糖タンパク質代謝障害
    H00118  先天性グリコシル化異常症 I 型
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
小胞体におけるタンパク質のプロセッシング
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-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
診断マーカー
Transferrin [HSA:7018] (The glycosylation profile shows increased amounts of disialo- and asialotransferrin.)
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    
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)
文献    
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)
文献    
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)
文献    
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)
文献    
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)
文献    
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)
文献    
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)
文献    
PMID:17716641 (marker)
  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)
文献    
PMID:17523137 (marker)
  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)
文献    
  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)

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