Entry |
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Name |
Congenital disorders of glycosylation type I |
Description |
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.
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Category |
Inherited metabolic disease
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Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of glycan/glycoprotein metabolism
H00118 Congenital disorders of glycosylation type I
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C54 Inborn errors of glycosylation or other specified protein modification
H00118 Congenital disorders of glycosylation type I
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Pathway |
hsa00051 Fructose and mannose metabolism | |
hsa04141 Protein processing in endoplasmic reticulum | |
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Network |
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Element |
N00654 | STT3A deficiency in N-glycan precursor biosynthesis |
N00655 | STT3B deficiency in N-glycan precursor biosynthesis |
N00656 | DDOST deficiency in N-glycan precursor biosynthesis |
N00657 | ALG8 deficiency in N-glycan precursor biosynthesis |
N00658 | ALG6 deficiency in N-glycan precursor biosynthesis |
N00659 | ALG9 deficiency in N-glycan precursor biosynthesis |
N00660 | ALG12 deficiency in N-glycan precursor biosynthesis |
N00661 | ALG3 deficiency in N-glycan precursor biosynthesis |
N00662 | ALG11 deficiency in N-glycan precursor biosynthesis |
N00663 | ALG2 deficiency in N-glycan precursor biosynthesis |
N00664 | ALG1 deficiency in N-glycan precursor biosynthesis |
N00665 | ALG13 deficiency in N-glycan precursor biosynthesis |
N00666 | ALG7 deficiency in N-glycan precursor biosynthesis |
N00668 | DPM1 deficiency in N-glycan precursor biosynthesis |
N00669 | DPM2 deficiency in N-glycan precursor biosynthesis |
N00670 | DPM3 deficiency in N-glycan precursor biosynthesis |
N00671 | PMM2 deficiency in N-glycan precursor biosynthesis |
N00672 | MPI deficiency in N-glycan precursor biosynthesis |
N00674 | PGM1 deficiency in N-glycan precursor biosynthesis |
N00676 | DOLK deficiency in N-glycan precursor biosynthesis |
N00677 | SRD5A3 deficiency in N-glycan precursor biosynthesis |
N00678 | NUS1 deficiency in N-glycan precursor biosynthesis |
N00831 | Mutation-inactivated RFT1 to transport of Man5GlcNAc2-PP-dolichol |
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Gene |
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Other DBs |
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Reference |
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Authors |
Sparks SE |
Title |
Inherited disorders of glycosylation. |
Journal |
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Reference |
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Authors |
Marquardt T, Denecke J |
Title |
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. |
Journal |
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Reference |
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Authors |
Neumann LM, von Moers A, Kunze J, Blankenstein O, Marquardt T |
Title |
Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. |
Journal |
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Reference |
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Authors |
Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N |
Title |
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. |
Journal |
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Reference |
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Authors |
Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T |
Title |
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. |
Journal |
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Reference |
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Authors |
Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T |
Title |
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). |
Journal |
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Reference |
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Authors |
Zdebska E, Bader-Meunier B, Schischmanoff PO, Dupre T, Seta N, Tchernia G, Koscielak J, Delaunay J |
Title |
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. |
Journal |
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Reference |
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Authors |
Schollen E, Frank CG, Keldermans L, Reyntjens R, Grubenmann CE, Clayton PT, Winchester BG, Smeitink J, Wevers RA, Aebi M, Hennet T, Matthijs G |
Title |
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). |
Journal |
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Reference |
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Authors |
Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C. |
Title |
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. |
Journal |
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Reference |
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Authors |
Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH |
Title |
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. |
Journal |
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Reference |
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Authors |
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 |
Title |
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. |
Journal |
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Reference |
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Authors |
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T |
Title |
Human RFT1 deficiency leads to a disorder of N-linked glycosylation. |
Journal |
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Reference |
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Authors |
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 |
Title |
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. |
Journal |
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Reference |
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Authors |
Rind N, Schmeiser V, Thiel C, Absmanner B, Lubbehusen J, Hocks J, Apeshiotis N, Wilichowski E, Lehle L, Korner C |
Title |
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. |
Journal |
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Reference |
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Authors |
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 |
Title |
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. |
Journal |
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Reference |
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Authors |
Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR |
Title |
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. |
Journal |
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Reference |
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Authors |
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 |
Title |
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. |
Journal |
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Reference |
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Authors |
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 |
Title |
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. |
Journal |
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Reference |
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Authors |
Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH |
Title |
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. |
Journal |
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Reference |
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Authors |
Marklova E, Albahri Z |
Title |
Screening and diagnosis of congenital disorders of glycosylation. |
Journal |
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Reference |
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Authors |
Sanz-Nebot V, Balaguer E, Benavente F, Neususs C, Barbosa J |
Title |
Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS. |
Journal |
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Reference |
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Authors |
Haeuptle MA, Hennet T |
Title |
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. |
Journal |
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Reference |
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Authors |
Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH |
Title |
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. |
Journal |
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Reference |
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Authors |
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB |
Title |
CAD mutations and uridine-responsive epileptic encephalopathy. |
Journal |
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Reference |
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Authors |
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 |
Title |
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. |
Journal |
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Reference |
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Authors |
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 |
Title |
Multiple phenotypes in phosphoglucomutase 1 deficiency. |
Journal |
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Reference |
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Authors |
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 |
Title |
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. |
Journal |
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Reference |
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Authors |
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 |
Title |
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. |
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