CDG
MCID: CNG025
MIFTS: 39

Congenital Disorder of Glycosylation (CDG) malady

Neuronal, Liver, Ear, Metabolic, Fetal categories

Summaries for Congenital Disorder of Glycosylation

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 disorders of glycosylation, is related to cutis laxa and congenital disorder of glycosylation type 1a. 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.

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

Wikipedia:64 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Description from OMIM:47 212065,212066,612015

GeneReviews summary for cdg

Aliases & Classifications for Congenital Disorder of Glycosylation

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 9diseasecard, 47OMIM, 61UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 40NCIt, 57SNOMED-CT, 35MeSH, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Liver, Ear, Metabolic


Characteristics (Orphanet epidemiological data):

49

Aliases & Descriptions:

congenital disorder of glycosylation 8 10
congenital disorders of glycosylation 19 43 20 22
carbohydrate-deficient glycoprotein syndromes 19 43 22
congenital disorder of glycosylation, type in 9 47 61
carbohydrate-deficient glycoprotein syndrome 8 45
carbohydrate deficient glycoprotein syndrome type in 49
congenital disorder of glycosylation type 1n 49
congenital disorder of glycosylation type in 49
déficit en man5glcnac2-pp-dol flippase 49
man5glcnac2-pp-dol flippase deficiency 49
cdg syndrome type in 49
cdg syndromes 19
rft1-cdg 49
cdg-in 49
cdg1n 49
cdg 43


External Ids:

Disease Ontology8 DOID:5212
NCIt40 C84615
SNOMED-CT57 238049009
MeSH35 D018981
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Congenital Disorder of Glycosylation family:

congenital disorder of glycosylation type ii congenital disorder of glycosylation type i
congenital disorder of glycosylation type 1a congenital disorder of glycosylation type 1b
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 88)
idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa30.2COG7
2congenital disorder of glycosylation type 1a10.8
3congenital disorder of glycosylation type ii10.6
4congenital disorder of glycosylation type i10.6
5congenital disorder of glycosylation type 1b10.6
6congenital disorder of glycosylation type 1c10.6
7congenital disorder of glycosylation type 1e10.6
8congenital disorder of glycosylation type 1f10.6
9congenital disorder of glycosylation type 2a10.6
10congenital disorder of glycosylation type 1d10.6
11congenital disorder of glycosylation type 1g10.6
12congenital disorder of glycosylation type 2d10.6
13congenital disorder of glycosylation type 1h10.6
14congenital disorder of glycosylation type 2b10.6
15congenital disorder of glycosylation type 2c10.6
16congenital disorder of glycosylation type 2e10.6
17char syndrome10.5
18congenital disorder of glycosylation type 2g10.5
19congenital disorder of glycosylation, type il10.5
20congenital disorder of glycosylation, type ik10.5
21congenital disorder of glycosylation, type im10.5
22congenital disorder of glycosylation, type ij10.5
23congenital disorder of glycosylation, type ip10.5
24n syndrome10.5
25micro syndrome10.5
26congenital disorder of glycosylation type 1i10.4
27congenital disorder of glycosylation type 1j10.4
28congenital disorder of glycosylation type 1k10.4
29congenital disorder of glycosylation type 1l10.4
30congenital disorder of glycosylation type iil10.4
31congenital disorder of glycosylation, type ir10.4
32congenital disorder of glycosylation, type io10.4
33congenital disorder of glycosylation, type iq10.4
34congenital disorder of glycosylation, type iif10.4
35congenital disorder of glycosylation, type iii10.4
36congenital disorder of glycosylation, type iij10.4
37congenital disorder of glycosylation, type iih10.4
38congenital disorder of glycosylation, type iim10.4
39olivopontocerebellar atrophy10.4
40cerebellar hypoplasia10.4
41leukocyte adhesion deficiency10.4
42hypertrophic cardiomyopathy10.4
43congenital disorder of glycosylation, type iu10.4
44protein-losing enteropathy10.3
45congenital disorder of glycosylation type i/iix10.3
46hydrops fetalis10.3
47phosphomannoisomerase deficiency10.3
48ataxia10.3
49congenital disorder of glycosylation, type it10.3
50congenital disorder of glycosylation, type iv10.3

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

Sources:
47OMIM
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Clinical features from OMIM:

212065,212066,612015

Drugs & Therapeutics for Congenital Disorder of Glycosylation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Disorder of Glycosylation

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation

Search NIH Clinical Center for Congenital Disorder of Glycosylation

Search CenterWatch for Congenital Disorder of Glycosylation

Genetic Tests for Congenital Disorder of Glycosylation

Sources:
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
4 Carbohydrate-deficient Glycoprotein Syndrome22

Anatomical Context for Congenital Disorder of Glycosylation

Animal Models for Congenital Disorder of Glycosylation or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Disorder of Glycosylation

Genetic Variations for Congenital Disorder of Glycosylation

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Disorder of Glycosylation:

63
id Symbol AA change Variation SNP ID
1RFT1p.Arg67CysVAR_044334
2RFT1p.Lys152GluVAR_062572
3RFT1p.Glu298LysVAR_062573

Expression for genes affiliated with Congenital Disorder of Glycosylation

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

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation.

Pathways for genes affiliated with Congenital Disorder of Glycosylation

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Congenital Disorder of Glycosylation

GO Terms for genes affiliated with Congenital Disorder of Glycosylation

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet