KEGG DISEASE: Congenital disorders of glycosylation type I

DISEASE: Congenital disorders of glycosylation type I

Entry

H00118                      Disease

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.

Category

Inherited metabolic disorder

Brite

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
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06015  N-Glycan biosynthesis
   H00118  Congenital disorders of glycosylation type I

Pathway

hsa00510

N-Glycan biosynthesis

Network

nt06015 N-Glycan biosynthesis

Gene

(CDG1A) PMM2 [HSA:5373] [KO:K17497]
(CDG1B) MPI [HSA:4351] [KO:K01809]
(CDG1C) ALG6 [HSA:29929] [KO:K03848]
(CDG1D) ALG3 [HSA:10195] [KO:K03845]
(CDG1E) DPM1 [HSA:8813] [KO:K00721]
(CDG1F) MPDU1 [HSA:9526] [KO:K09660]
(CDG1G) ALG12 [HSA:79087] [KO:K03847]
(CDG1H) ALG8 [HSA:79053] [KO:K03849]
(CDG1I) ALG2 [HSA:85365] [KO:K03843]
(CDG1J) DPAGT1 [HSA:1798] [KO:K01001]
(CDG1K) ALG1 [HSA:56052] [KO:K03842]
(CDG1L) ALG9 [HSA:79796] [KO:K03846]
(CDG1M) DOLK [HSA:22845] [KO:K00902]
(CDG1N) RFT1 [HSA:91869] [KO:K06316]
(CDG1O) DPM3 [HSA:54344] [KO:K09659]
(CDG1P) ALG11 [HSA:440138] [KO:K03844]
(CDG1Q) SRD5A3 [HSA:79644] [KO:K12345]
(CDG1R) DDOST [HSA:1650] [KO:K12670]
(CDG1S) ALG13 [HSA:79868] [KO:K07432]
(CDG1T) PGM1 [HSA:5236] [KO:K01835]
(CDG1U) DPM2 [HSA:8818] [KO:K09658]
(CDG1WAR) STT3A [HSA:3703] [KO:K07151]
(CDG1X) STT3B [HSA:201595] [KO:K07151]
(CDG1Y) SSR4 [HSA:6748] [KO:K04571]
(CDG1AA) NUS1 [HSA:116150] [KO:K19177]
(CDG1BB) DHDDS [HSA:79947] [KO:K11778]
(CDG1CC) MAGT1 [HSA:84061] [KO:K19478]
(CDG1DD) DHRSX [HSA:207063] [KO:K11170]

Other DBs

ICD-11:

5C54.0

ICD-10:

E77.8

MeSH:

D018981

Reference

PMID:17716641

Authors

Marklova E, Albahri Z

Title

Screening and diagnosis of congenital disorders of glycosylation.

Journal

Clin Chim Acta 385:6-20 (2007)
DOI:10.1016/j.cca.2007.07.002

Reference

PMID:17523137

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

Electrophoresis 28:1949-57 (2007)
DOI:10.1002/elps.200600648

Reference

PMID:19862844

Authors

Haeuptle MA, Hennet T

Title

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Journal

Hum Mutat 30:1628-41 (2009)
DOI:10.1002/humu.21126

Reference

PMID:24499211

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

N Engl J Med 370:533-42 (2014)
DOI:10.1056/NEJMoa1206605

Reference

PMID:12905014 (CDG1A)

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

Eur J Pediatr 162:710-3 (2003)
DOI:10.1007/s00431-003-1278-8

Reference

PMID:12414827 (CDG1B)

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

J Med Genet 39:849-51 (2002)
DOI:10.1136/jmg.39.11.849

Reference

PMID:10359825 (CDG1C)

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

Proc Natl Acad Sci U S A 96:6982-7 (1999)
DOI:10.1073/pnas.96.12.6982

Reference

PMID:15108280 (CDG1D)

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

Hum Mutat 23:477-86 (2004)
DOI:10.1002/humu.20026

Reference

PMID:10642597 (CDG1E)

Authors

Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH

Title

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Journal

J Clin Invest 105:191-8 (2000)
DOI:10.1172/JCI7302

Reference

PMID:11733564 (CDG1F)

Authors

Schenk B, Imbach T, Frank CG, Grubenmann CE, Raymond GV, Hurvitz H, Korn-Lubetzki I, Revel-Vik S, Raas-Rotschild A, Luder AS, Jaeken J, Berger EG, Matthijs G, Hennet T, Aebi M

Title

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Journal

J Clin Invest 108:1687-95 (2001)
DOI:10.1172/JCI13419

Reference

PMID:11983712 (CDG1G)

Authors

Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE

Title

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Journal

J Biol Chem 277:25815-22 (2002)
DOI:10.1074/jbc.M203285200

Reference

PMID:15235028 (CDG1H)

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

J Med Genet 41:550-6 (2004)
DOI:10.1136/jmg.2003.016923

Reference

PMID:12684507 (CDG1I)

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

J Biol Chem 278:22498-505 (2003)
DOI:10.1074/jbc.M302850200

Reference

PMID:12872255 (CDG1J)

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

Hum Mutat 22:144-50 (2003)
DOI:10.1002/humu.10239

Reference

PMID:14973778 (CDG1K)

Authors

Schwarz M, Thiel C, Lubbehusen J, Dorland B, de Koning T, von Figura K, Lehle L, Korner C

Title

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Journal

Am J Hum Genet 74:472-81 (2004)
DOI:10.1086/382492

Reference

PMID:15148656 (CDG1L)

Authors

Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T

Title

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Journal

Am J Hum Genet 75:146-50 (2004)
DOI:10.1086/422367

Reference

PMID:17273964 (CDG1M)

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

Am J Hum Genet 80:433-40 (2007)
DOI:10.1086/512130

Reference

PMID:18313027 (CDG1N)

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

Am J Hum Genet 82:600-6 (2008)
DOI:10.1016/j.ajhg.2007.12.021

Reference

PMID:19576565 (CDG1O)

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

Am J Hum Genet 85:76-86 (2009)
DOI:10.1016/j.ajhg.2009.06.006

Reference

PMID:20080937 (CDG1P)

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

Hum Mol Genet 19:1413-24 (2010)
DOI:10.1093/hmg/ddq016

Reference

PMID:20637498 (CDG1Q)

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

Cell 142:203-17 (2010)
DOI:10.1016/j.cell.2010.06.001

Reference

PMID:22305527 (CDG1R)

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

Am J Hum Genet 90:363-8 (2012)
DOI:10.1016/j.ajhg.2011.12.024

Reference

PMID:22492991 (CDG1S CDG1T)

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

Hum Mol Genet 21:4151-61 (2012)
DOI:10.1093/hmg/dds123

Reference

PMID:23109149 (CDG1U)

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

Ann Neurol 72:550-8 (2012)
DOI:10.1002/ana.23632

Reference

PMID:23842455 (CDG1WAR CDG1X)

Authors

Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH

Title

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Journal

Hum Mol Genet 22:4638-45 (2013)
DOI:10.1093/hmg/ddt312

Reference

PMID:24218363 (CDG1Y)

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

Hum Mol Genet 23:1602-5 (2014)
DOI:10.1093/hmg/ddt550

Reference

PMID:25066056 (CDG1AA)

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

Cell Metab 20:448-57 (2014)
DOI:10.1016/j.cmet.2014.06.016

Reference

PMID:27343064 (CDG1BB)

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

Orphanet J Rare Dis 11:84 (2016)
DOI:10.1186/s13023-016-0468-1

Reference

PMID:31036665 (CDG1CC)

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.

Journal

Proc Natl Acad Sci U S A 116:9865-9870 (2019)
DOI:10.1073/pnas.1817815116

Reference

PMID:38821050 (CDG1DD)

Authors

Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT

Title

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Journal

Cell 187:3585-3601.e22 (2024)
DOI:10.1016/j.cell.2024.04.041

» Japanese version

All links

Network (27)   
   KEGG NETWORK (1)   
   KEGG VARIANT (26)   
Disease (28)   
   OMIM (28)   
Gene (55)   
   KEGG ORTHOLOGY (27)   
   KEGG GENES (28)   
Literature (30)   
   PubMed (30)   
All databases (140)   

Download RDF

DBGET integrated database retrieval system