CDG
MCID: CNG025
MIFTS: 57

Congenital Disorder of Glycosylation (CDG) malady

Neuronal diseases, Liver diseases, Ear diseases, Metabolic diseases, Fetal diseases categories

Summaries for Congenital Disorder of Glycosylation

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Congenital disorders of glycosylation (cdg) are a group of inherited metabolic disorders that affect a process called glycosylation. glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. there are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. individuals with a cdg are missing one of the enzymes that is required for glycosylation. the type of cdg that a person has depends on which enzyme is missing. currently, there are 19 identified types of cdg. cdg type ia is the most common form. the symptoms of cdg vary widely among affected individuals. some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential. last updated: 9/21/2011

MalaCards: Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation, type in, is related to cutis laxa and congenital disorder of glycosylation type i. An important gene associated with Congenital Disorder of Glycosylation is RFT1 (RFT1 homolog (S. cerevisiae)), and among its related pathways are Transport of organic anions and Transport of nucleotide sugars. Affiliated tissues include liver, bone and brain.

Disease Ontology:8 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

Wikipedia:63 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Description from OMIM:46 212065,212066,612015

Aliases & Classifications for Congenital Disorder of Glycosylation

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

congenital disorder of glycosylation 8 10
congenital disorder of glycosylation, type in 9 46 60
congenital disorders of glycosylation 42 20 22
carbohydrate deficient glycoprotein syndrome type in 48
carbohydrate-deficient glycoprotein syndromes 42
carbohydrate-deficient glycoprotein syndrome 8
congenital disorder of glycosylation type in 48
congenital disorder of glycosylation type 1n 48
déficit en man5glcnac2-pp-dol flippase 48
man5glcnac2-pp-dol flippase deficiency 48
cdg syndrome type in 48
rft1-cdg 48
cdg-in 48
cdg1n 48
cdg 42


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Disease Ontology8 DOID:5212
NCIt39 C84615
SNOMED-CT56 238049009
MeSH34 D018981
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Disorder of Glycosylation Type 1b family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation Type I
congenital disorder of glycosylation Congenital Disorder of Glycosylation Type 1a
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1e
Congenital Disorder of Glycosylation Type 1f Congenital Disorder of Glycosylation Type 1i
Congenital Disorder of Glycosylation Type 2a Congenital Disorder of Glycosylation Type 1d
Congenital Disorder of Glycosylation Type 1g Congenital Disorder of Glycosylation Type 1h
Congenital Disorder of Glycosylation Type 1j Congenital Disorder of Glycosylation Type 1k
Congenital Disorder of Glycosylation Type 1l Congenital Disorder of Glycosylation Type 2b
Congenital Disorder of Glycosylation Type 2c Congenital Disorder of Glycosylation Type 2d
Congenital Disorder of Glycosylation Type 2e Congenital Disorder of Glycosylation Type 2g
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Iv
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Iih

Diseases related to Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa30.1COG7
2congenital disorder of glycosylation type i10.7
3congenital disorder of glycosylation type 1a10.7
4congenital disorder of glycosylation type ii10.7
5congenital disorder of glycosylation type 1b10.5
6congenital disorder of glycosylation type 1c10.5
7congenital disorder of glycosylation type 1e10.5
8congenital disorder of glycosylation type 1f10.5
9congenital disorder of glycosylation type 2a10.5
10congenital disorder of glycosylation type 1d10.5
11congenital disorder of glycosylation type 1g10.5
12congenital disorder of glycosylation type 2d10.5
13congenital disorder of glycosylation type 1h10.5
14congenital disorder of glycosylation type 2b10.5
15congenital disorder of glycosylation type 2c10.5
16congenital disorder of glycosylation type 2e10.5
17congenital disorder of glycosylation type 2g10.5
18congenital disorder of glycosylation, type il10.5
19congenital disorder of glycosylation, type ik10.5
20congenital disorder of glycosylation, type im10.4
21congenital disorder of glycosylation, type ij10.4
22congenital disorder of glycosylation, type ip10.4
23n syndrome10.4
24congenital disorders of n-linked glycosylation pathway10.4
25congenital disorder of glycosylation type 1i10.4
26congenital disorder of glycosylation type 1j10.4
27congenital disorder of glycosylation type 1k10.4
28congenital disorder of glycosylation type 1l10.4
29congenital disorder of glycosylation type iil10.4
30congenital disorder of glycosylation, type ir10.4
31congenital disorder of glycosylation, type io10.4
32congenital disorder of glycosylation, type iq10.4
33congenital disorder of glycosylation, type iif10.4
34congenital disorder of glycosylation, type iii10.4
35congenital disorder of glycosylation, type iij10.4
36congenital disorder of glycosylation, type iih10.4
37congenital disorder of glycosylation, type iim10.4
38olivopontocerebellar atrophy10.3
39leukocyte adhesion deficiency10.3
40hypertrophic cardiomyopathy10.3
41retinitis10.3
42congenital disorder of glycosylation, type iu10.3
43protein-losing enteropathy10.2
44carbohydrate metabolic disorder10.2
45cerebellar ataxia10.2
46liver disease10.2
47peters plus syndrome10.2
48congenital disorder of glycosylation type i/iix10.2
49phosphomannoisomerase deficiency10.2
50congenital disorder of glycosylation, type it10.2

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation:



Diseases related to congenital disorder of glycosylation

Clinical Features for Congenital Disorder of Glycosylation

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46OMIM
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Clinical features from OMIM:

212065,212066,612015

Drugs & Therapeutics for Congenital Disorder of Glycosylation

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Disorder of Glycosylation

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Genetic Tests for Congenital Disorder of Glycosylation

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20GeneTests, 22GTR
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Genetic tests related to Congenital Disorder of Glycosylation:

id Genetic test Affiliating Genes
1 Congenital Disorders of Glycosylation20
2 Congenital Disorders of Glycosylation Multi-Gene Panels20
3 Congenital Disorder of Glycosylation22

Anatomical Context for Congenital Disorder of Glycosylation

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32MalaCards
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MalaCards organs/tissues related to Congenital Disorder of Glycosylation:

32
Liver, Bone, Brain, Heart, Ovary

Animal Models for Congenital Disorder of Glycosylation or affiliated genes

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Publications for Congenital Disorder of Glycosylation

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50PubMed
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Articles related to Congenital Disorder of Glycosylation:

(show top 50)    (show all 200)
idTitleAuthorsYear
1
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
2
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). (22327749)
2013
3
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). (24037084)
2013
4
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. (22492991)
2012
5
TMEM165 deficiency causes a congenital disorder of glycosylation. (22683087)
2012
6
Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia. (23082948)
2012
7
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. (22213132)
2012
8
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. (22305527)
2012
9
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). (22012410)
2012
10
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. (19176971)
2009
11
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. (19100247)
2009
12
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE. (19101518)
2009
13
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. (19856127)
2009
14
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. (19690088)
2009
15
Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats. (18199743)
2008
16
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. (19067230)
2008
17
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. (17276979)
2007
18
Expanding spectrum of congenital disorder of glycosylation Ig (CDG- Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. (17506107)
2007
19
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). (17186415)
2007
20
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. (17158594)
2007
21
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia). (16826448)
2006
22
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. (16537452)
2006
23
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. (16601903)
2006
24
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. (15917429)
2005
25
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. (16356446)
2005
26
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. (16007612)
2005
27
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. (15639192)
2005
28
Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc. (16344471)
2005
29
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. (14973778)
2004
30
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! (12889654)
2003
31
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I. (12626389)
2003
32
Ophthalmic manifestations of congenital disorder of glycosylation type 1a. (12789572)
2003
33
Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic. (14517965)
2003
34
Extension of lipid-linked oligosaccharides is a high-priority aspect of the unfolded protein response: endoplasmic reticulum stress in Type I congenital disorder of glycosylation fibroblasts. (12070073)
2002
35
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. (12705494)
2002
36
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia). (12244009)
2002
37
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA. (12013150)
2002
38
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia. (12029011)
2002
39
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. (12414827)
2002
40
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. (11596651)
2001
41
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. (11326280)
2001
42
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. (11517108)
2001
43
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. (11350186)
2001
44
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. (11870587)
2001
45
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. (11350185)
2001
46
Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (10914684)
2000
47
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). (10854097)
2000
48
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. (10852543)
2000
49
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). (11058895)
2000
50
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). (10642597)
2000

Genetic Variations for Congenital Disorder of Glycosylation

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Disorder of Glycosylation:

62
id Symbol AA change Variation ID SNP ID
1RFT1p.Arg67CysVAR_044334
2RFT1p.Lys152GluVAR_062572
3RFT1p.Glu298LysVAR_062573

Expression for genes affiliated with Congenital Disorder of Glycosylation

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation

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Pathways for genes affiliated with Congenital Disorder of Glycosylation

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Congenital Disorder of Glycosylation

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GO Terms for genes affiliated with Congenital Disorder of Glycosylation

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16Gene Ontology
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Cellular components related to Congenital Disorder of Glycosylation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi transport complexGO:01711910.3COG4, COG7, COG8, COG5
2endoplasmic reticulumGO:00578310.3ALG1, SRD5A3, MPDU1, MOGS, ALG12
3endoplasmic reticulum membraneGO:00578910.0ALG11, ALG1, ALG8, ALG9, ALG12, ALG3
4Golgi membraneGO:0001399.8SLC35C1, SLC35A1, COG5, COG8, COG7, COG4
5integral to membraneGO:0160219.8ALG9, ALG8, ALG1, ALG3, ALG2, TMEM165

Biological processes related to Congenital Disorder of Glycosylation according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein foldingGO:00645710.4ALG12, MOGS, MPDU1
2protein N-linked glycosylationGO:00648710.3ALG6, ALG12, ALG8, TMEM165, DPAGT1, MOGS
3carbohydrate transportGO:00864310.3SLC35C1, RFT1
4protein glycosylationGO:00648610.3ALG1, ALG3, SRD5A3, COG7
5protein N-linked glycosylation via asparagineGO:01827910.2DPAGT1, ALG3, ALG2, ALG1, RFT1, ALG6
6dolichol-linked oligosaccharide biosynthetic processGO:00648810.2ALG6, ALG8, ALG1, ALG2, ALG3, SRD5A3
7post-translational protein modificationGO:04368710.2MOGS, DPAGT1, ALG3, ALG2, ALG1, ALG8
8cellular protein metabolic processGO:04426710.1ALG8, ALG6, ALG11, ALG12, ALG9, DPAGT1
9retrograde vesicle-mediated transport, Golgi to ERGO:00689010.1COG7, COG4

Molecular functions related to Congenital Disorder of Glycosylation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-1,3-mannosyltransferase activityGO:00003310.4ALG8, ALG2, ALG3

Products for genes affiliated with Congenital Disorder of Glycosylation

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Sources for Congenital Disorder of Glycosylation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet