CDG
MCID: CNG025
MIFTS: 53

Congenital Disorder of Glycosylation (CDG) malady

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Summaries for Congenital Disorder of Glycosylation

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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 based summary: Congenital Disorder of Glycosylation, also known as congenital disorders of glycosylation, is related to congenital disorder of glycosylation type 1a and congenital disorder of glycosylation type i, and has symptoms including 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:8 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

Wikipedia:65 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

Descriptions from OMIM:46 212065,212066,612015

Aliases & Classifications for Congenital Disorder of Glycosylation

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Congenital Disorder of Glycosylation, Aliases & Descriptions:

Name: Congenital Disorder of Glycosylation 8 10
Congenital Disorders of Glycosylation 42 20 22 62
Congenital Disorder of Glycosylation, Type in 9 46 62
Carbohydrate Deficient Glycoprotein Syndrome Type in 48
Syndromes, Carbohydrate-Deficient Glycoprotein 62
Glycoprotein Syndrome, Carbohydrate-Deficient 62
Carbohydrate-Deficient Glycoprotein Syndromes 42
Carbohydrate-Deficient Glycoprotein Syndrome 8
 
Congenital Disorder of Glycosylation Type 1n 48
Congenital Disorder of Glycosylation Type in 48
Man5glcnac2-Pp-Dol Flippase Deficiency 48
Cdg Syndrome Type in 48
Rft1-Cdg 48
Cdg-in 48
Cdg1n 48
Cdg 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

Disease Ontology8 DOID:5212
NCIt39 C84615
SNOMED-CT57 238049009
MeSH34 D018981
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation

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Diseases in the Congenital Disorder of Glycosylation Type I family:

Congenital Disorder of Glycosylation Type Ii congenital disorder of glycosylation
Congenital Disorder of Glycosylation Type 1a Congenital Disorder of Glycosylation Type 1b
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1d
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 2g
Congenital Disorder of Glycosylation Type Iii 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 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation type 1a10.8
2congenital disorder of glycosylation type i10.8
3congenital disorder of glycosylation type ii10.8
4congenital disorder of glycosylation type 1c10.8
5congenital disorder of glycosylation type iii10.6
6congenital disorder of glycosylation, type ik10.6
7congenital disorder of glycosylation type 1b10.6
8congenital disorder of glycosylation type 1f10.6
9congenital disorder of glycosylation type 1g10.6
10congenital disorder of glycosylation type 1d10.6
11congenital disorder of glycosylation type 1h10.6
12congenital disorder of glycosylation type 2a10.6
13congenital disorder of glycosylation type 2d10.6
14congenital disorder of glycosylation type 2b10.6
15congenital disorder of glycosylation type 2c10.6
16congenital disorder of glycosylation type 2g10.6
17congenital disorder of glycosylation, type il10.6
18congenital disorder of glycosylation, type ij10.6
19congenital disorder of glycosylation, type iih10.5
20congenital disorder of glycosylation type 1i10.5
21congenital disorder of glycosylation type 1j10.5
22congenital disorder of glycosylation type 1k10.5
23congenital disorder of glycosylation type 1l10.5
24congenital disorder of glycosylation type iil10.5
25skeletal dysplasias10.5
26congenital disorder of glycosylation, type ir10.5
27congenital disorder of glycosylation, type iif10.5
28congenital disorder of glycosylation, type im10.5
29congenital disorder of glycosylation, type ip10.5
30congenital disorders of n-linked glycosylation pathway10.5
31congenital disorder of glycosylation, type io10.4
32congenital disorder of glycosylation, type iu10.4
33congenital disorder of glycosylation, type iij10.4
34congenital disorder of glycosylation, type iim10.4
35olivopontocerebellar atrophy10.4
36cerebellar hypoplasia10.4
37leukocyte adhesion deficiency10.4
38hypertrophic cardiomyopathy10.4
39retinitis10.4
40congenital disorder of glycosylation type i/iix10.4
41congenital disorder of glycosylation, type it10.4
42congenital disorder of glycosylation, type ix10.4
43congenital disorder of glycosylation, type iq10.4
44cerebellar ataxia10.3
45liver disease10.3
46protein-losing enteropathy10.3
47peters plus syndrome10.3
48hydrops fetalis10.3
49phosphomannoisomerase deficiency10.3
50ataxia10.3

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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Clinical features from OMIM:

212065,212066,612015

HPO human phenotypes related to Congenital Disorder of Glycosylation:

(show all 27)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 abnormality of coagulation hallmark (90%) HP:0001928
3 cerebral cortical atrophy hallmark (90%) HP:0002120
4 elevated hepatic transaminases hallmark (90%) HP:0002910
5 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
6 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
7 abnormal retinal pigmentation hallmark (90%) HP:0007703
8 abnormality of adipose tissue hallmark (90%) HP:0009124
9 abnormality of immune system physiology hallmark (90%) HP:0010978
10 cognitive impairment hallmark (90%) HP:0100543
11 abnormality of the genital system typical (50%) HP:0000078
12 broad forehead typical (50%) HP:0000337
13 seizures typical (50%) HP:0001250
14 hypertrophic cardiomyopathy typical (50%) HP:0001639
15 abnormality of the pericardium typical (50%) HP:0001697
16 hypoglycemia typical (50%) HP:0001943
17 nephropathy occasional (7.5%) HP:0000112
18 ascites occasional (7.5%) HP:0001541
19 abnormality of the intestine occasional (7.5%) HP:0002242
20 peripheral neuropathy occasional (7.5%) HP:0009830
21 autosomal recessive inheritance HP:0000007
22 seizures HP:0001250
23 muscular hypotonia HP:0001252
24 global developmental delay HP:0001263
25 hepatomegaly HP:0002240
26 abnormal isoelectric focusing of serum transferrin HP:0003160
27 abnormality of the coagulation cascade HP:0003256

Drugs & Therapeutics for Congenital Disorder of Glycosylation

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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation

Search NIH Clinical Center for Congenital Disorder of Glycosylation

Genetic Tests for Congenital Disorder of Glycosylation

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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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MalaCards organs/tissues related to Congenital Disorder of Glycosylation:

32
Liver, Bone, Brain, Heart

Animal Models for Congenital Disorder of Glycosylation or affiliated genes

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Publications for Congenital Disorder of Glycosylation

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Articles related to Congenital Disorder of Glycosylation:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. (25192236)
2014
2
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. (25052310)
2014
3
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (23561849)
2013
4
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (23856421)
2013
5
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. (24144945)
2013
6
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). (22327749)
2013
7
Fibrotic response in fibroblasts from congenital disorders of glycosylation. (21029365)
2011
8
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? (23430830)
2011
9
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. (20138683)
2010
10
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. (20679665)
2010
11
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. (20080937)
2010
12
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. (19576565)
2009
13
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. (19176971)
2009
14
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. (19862844)
2009
15
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. (19100247)
2009
16
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. (19648040)
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
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. (14973778)
2004
35
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! (12889654)
2003
36
Congenital disorders of glycosylation]. (13130291)
2003
37
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. (12480927)
2003
38
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation. (12763243)
2003
39
Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij. (12872255)
2003
40
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. (11891694)
2002
41
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (12217961)
2002
42
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
43
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
44
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. (11596651)
2001
45
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. (11583570)
2001
46
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). (11733556)
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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation:

64
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:

6
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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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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet