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, 10DISEASES, 9diseasecard, 46OMIM, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 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
congenital disorder of glycosylation type 1n 48
carbohydrate-deficient glycoprotein syndrome 8
congenital disorder of glycosylation type in 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


External Ids:

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
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG. (23430200)
2013
2
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. (23320427)
2013
3
Macular hypoplasia in congenital disorder of glycosylation type ia. (22649348)
2012
4
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. (22966035)
2012
5
Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report. (21960674)
2012
6
Congenital disorder of glycosylation: a case presentation. (22469962)
2012
7
Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency. (22801829)
2012
8
Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. (21539312)
2011
9
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)
2010
10
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. (20080937)
2010
11
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. (20605848)
2010
12
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. (19576565)
2009
13
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. (18720094)
2009
14
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. (19235233)
2009
15
Retinal hemorrhages associated with meningitis in a child with a congenital disorder of glycosylation. (19851897)
2009
16
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. (18203160)
2008
17
Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc. (18541720)
2008
18
Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. (18928705)
2008
19
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. (18679822)
2008
20
Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. (17308246)
2007
21
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. (17129170)
2007
22
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. (16439595)
2006
23
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. (16321363)
2006
24
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations. (16435227)
2005
25
Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. (16085795)
2005
26
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). (16435229)
2005
27
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. (14633925)
2004
28
Congenital disorders of glycosylation (CDG): update and new developments. (15272470)
2004
29
The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb). (15383536)
2004
30
Congenital disorder of glycosylation (CDG) type Ie. A new patient. (15669674)
2004
31
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation. (12763243)
2003
32
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms. (12872847)
2003
33
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. (13129599)
2003
34
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. (12684507)
2003
35
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. (12530817)
2003
36
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. (11983712)
2002
37
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. (11901181)
2002
38
Mice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIa. (12417412)
2002
39
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern. (11148191)
2001
40
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. (11134235)
2001
41
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. (11805078)
2001
42
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). (11668168)
2001
43
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. (11733564)
2001
44
Update and perspectives on congenital disorders of glycosylation. (11805072)
2001
45
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. (11715002)
2001
46
Congenital disorder of glycosylation-Ic: case report and genetic defect. (10832578)
2000
47
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. (10924277)
2000
48
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. (10642602)
2000
49
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. (11228641)
2000
50
Congenital Disorders of Glycosylation Overview (20301507)
1993

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:00578310.3ALG12, ALG1, SRD5A3, MPDU1, MOGS
3endoplasmic reticulum membraneGO:00578910.0ALG6, MOGS, MPDU1, DPAGT1, SRD5A3, ALG3
4Golgi membraneGO:0001399.8COG4, COG7, COG8, COG5, SLC35A1, SLC35C1
5integral to membraneGO:0160219.8MOGS, MPDU1, DPAGT1, SLC35C1, SRD5A3, TMEM165

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

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