CDG
MCID: CNG025
MIFTS: 52

Congenital Disorder of Glycosylation (CDG) malady

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Summaries for Congenital Disorder of Glycosylation

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 congenital disorder of glycosylation type 1a and congenital disorder of glycosylation type 1c. An important gene associated with Congenital Disorder of Glycosylation is RFT1 (RFT1 homolog (S. cerevisiae)), and among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. Affiliated tissues include liver, bone and brain.

Disease Ontology:9 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

Wikipedia:66 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Description from OMIM:48 212065,212066,612015

Aliases & Classifications for Congenital Disorder of Glycosylation

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50

Aliases & Descriptions:

congenital disorder of glycosylation 9 11
congenital disorder of glycosylation, type in 10 48 63
congenital disorders of glycosylation 44 21 23
carbohydrate deficient glycoprotein syndrome type in 50
carbohydrate-deficient glycoprotein syndromes 44
congenital disorder of glycosylation type 1n 50
carbohydrate-deficient glycoprotein syndrome 9
congenital disorder of glycosylation type in 50
man5glcnac2-pp-dol flippase deficiency 50
cdg syndrome type in 50
rft1-cdg 50
cdg-in 50
cdg1n 50
cdg 44


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Disease Ontology9 DOID:5212
MeSH36 D018981
SNOMED-CT59 238049009
NCIt41 C84615
ICD10 via Orphanet27 E77.8

Related Diseases for Congenital Disorder of Glycosylation

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18GeneCards, 19GeneDecks
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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 1d
Congenital Disorder of Glycosylation Type 1e Congenital Disorder of Glycosylation Type 1f
Congenital Disorder of Glycosylation Type 1g Congenital Disorder of Glycosylation Type 1h
Congenital Disorder of Glycosylation Type 1i Congenital Disorder of Glycosylation Type 1j
Congenital Disorder of Glycosylation Type 1k Congenital Disorder of Glycosylation Type 1l
Congenital Disorder of Glycosylation Type 2a 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 Ix 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation type 1a10.8
2congenital disorder of glycosylation type 1c10.7
3congenital disorder of glycosylation type i10.7
4congenital disorder of glycosylation type ii10.6
5congenital disorder of glycosylation type 1b10.6
6congenital disorder of glycosylation, type ik10.6
7congenital disorder of glycosylation type 1d10.6
8congenital disorder of glycosylation type 1e10.6
9congenital disorder of glycosylation type 1f10.6
10congenital disorder of glycosylation type 1g10.6
11congenital disorder of glycosylation type 2a10.6
12congenital disorder of glycosylation type 2d10.6
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 il10.5
18congenital disorder of glycosylation, type ij10.5
19congenital disorder of glycosylation type 2g10.5
20congenital disorder of glycosylation, type im10.5
21congenital disorder of glycosylation, type ip10.5
22congenital disorder of glycosylation, type iih10.5
23congenital disorders of n-linked glycosylation pathway10.5
24congenital disorder of glycosylation type 1i10.4
25congenital disorder of glycosylation type 1j10.4
26congenital disorder of glycosylation type 1k10.4
27congenital disorder of glycosylation type 1l10.4
28congenital disorder of glycosylation type iil10.4
29skeletal dysplasias10.4
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 iim10.4
37olivopontocerebellar atrophy10.4
38cerebellar hypoplasia10.4
39leukocyte adhesion deficiency10.4
40hypertrophic cardiomyopathy10.4
41retinitis10.4
42congenital disorder of glycosylation, type it10.4
43congenital disorder of glycosylation, type ix10.4
44congenital disorder of glycosylation, type iu10.4
45protein-losing enteropathy10.3
46cerebellar ataxia10.3
47liver disease10.3
48peters plus syndrome10.3
49congenital disorder of glycosylation type i/iix10.3
50hydrops fetalis10.3

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



Diseases related to congenital disorder of glycosylation

Symptoms for Congenital Disorder of Glycosylation

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48OMIM
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Clinical features from OMIM:

212065,212066,612015

Drugs & Therapeutics for Congenital Disorder of Glycosylation

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Disorder of Glycosylation

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21GeneTests, 23GTR
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Genetic tests related to Congenital Disorder of Glycosylation:

id Genetic test Affiliating Genes
1 Congenital Disorders of Glycosylation21
2 Congenital Disorders of Glycosylation Multi-Gene Panels21
3 Congenital Disorder of Glycosylation23

Anatomical Context for Congenital Disorder of Glycosylation

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34MalaCards
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MalaCards organs/tissues related to Congenital Disorder of Glycosylation:

34
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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53PubMed
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Articles related to Congenital Disorder of Glycosylation:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (23561849)
2013
2
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
3
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. (24144945)
2013
4
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). (22327749)
2013
5
Fibrotic response in fibroblasts from congenital disorders of glycosylation. (21029365)
2011
6
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? (23430830)
2011
7
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)
2010
8
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. (20679665)
2010
9
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. (20080937)
2010
10
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. (19576565)
2009
11
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. (19176971)
2009
12
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. (19862844)
2009
13
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. (19100247)
2009
14
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. (19648040)
2009
15
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
16
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. (19235233)
2009
17
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. (18500572)
2008
18
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. (18024528)
2008
19
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose. (19065443)
2008
20
Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. (17308246)
2007
21
Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. (17276979)
2007
22
COG8 deficiency causes new congenital disorder of glycosylation type IIh. (17331980)
2007
23
Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. (16915591)
2006
24
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. (16439595)
2006
25
Identification of glycoconjugates in the urine of a patient with congenital disorder of glycosylation by high-resolution mass spectrometry. (16372276)
2006
26
Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. (15917429)
2005
27
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations. (16435227)
2005
28
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. (16356445)
2005
29
Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death. (16085795)
2005
30
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. (16356446)
2005
31
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. (16007612)
2005
32
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. (14633925)
2004
33
Congenital disorders of glycosylation (CDG): update and new developments. (15272470)
2004
34
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! (12889654)
2003
35
Congenital disorders of glycosylation]. (13130291)
2003
36
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. (12480927)
2003
37
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation. (12763243)
2003
38
Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij. (12872255)
2003
39
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. (11891694)
2002
40
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (12217961)
2002
41
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
42
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (11875054)
2002
43
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. (11596651)
2001
44
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. (11583570)
2001
45
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). (11733556)
2001
46
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern. (11148191)
2001
47
Multi-allelic origin of congenital disorder of glycosylation (CDG)- Ic. (10914684)
2000
48
Congenital disorder of glycosylation-Ic: case report and genetic defect. (10832578)
2000
49
Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. (10924277)
2000
50
Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (11106564)
2000

Variations for Congenital Disorder of Glycosylation

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation:

65
id Symbol AA change Variation ID SNP ID
1RFT1p.Arg67CysVAR_044334
2RFT1p.Lys152GluVAR_062572
3RFT1p.Glu298LysVAR_062573

Clinvar genetic disease variations for Congenital Disorder of Glycosylation:

1
id Gene Name Type Significance SNP ID Assembly Location
1RFT1NM_052859.3(RFT1): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs118203913GRCh37Chr 3, 53157807: 53157807

Expression for genes affiliated with Congenital Disorder of Glycosylation

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 31KEGG, 39NCBI 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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17Gene Ontology
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Cellular components related to Congenital Disorder of Glycosylation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057897.4ALG1, ALG11, ALG9, DPAGT1, MPDU1
2integral component of membraneGO:0160216.9RFT1, DPAGT1, ALG9, ALG11, ALG1, SLC35C1

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

idNameGO IDScoreTop Affiliating Genes
1carbohydrate transportGO:0086439.6SLC35C1, RFT1
2protein N-linked glycosylation via asparagineGO:0182798.2RFT1, DPAGT1, ALG9, ALG11, ALG1
3post-translational protein modificationGO:0436878.1RFT1, DPAGT1, ALG9, ALG11, ALG1
4cellular protein metabolic processGO:0442677.9ALG1, ALG11, ALG9, DPAGT1, RFT1
5dolichol-linked oligosaccharide biosynthetic processGO:0064887.4ALG1, ALG11, ALG9, DPAGT1, RFT1, MPDU1

Products for genes affiliated with Congenital Disorder of Glycosylation

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Sources for Congenital Disorder of Glycosylation

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet