MCID: CNG013
MIFTS: 46

Congenital Disorder of Glycosylation Type I malady

Neuronal diseases, Liver diseases, Metabolic diseases categories

Summaries for Congenital Disorder of Glycosylation Type I

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8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.

MalaCards: Congenital Disorder of Glycosylation Type I, also known as congenital disorder of glycosylation, type is, is related to congenital disorder of glycosylation and congenital disorder of glycosylation type 1a. An important gene associated with Congenital Disorder of Glycosylation Type I is ALG13 (ALG13, UDP-N-acetylglucosaminyltransferase subunit), and among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mineral absorption. The compounds copper and zinc protoporphyrin have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:46 608540, 613661, 607906, 612015, 608799 608776, 603147, 601110, 608104, 610768, 212065, 609180, 612379, 612937, 607143, 602579, 608093, 300884 more

Aliases & Classifications for Congenital Disorder of Glycosylation Type I

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8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital disorder of glycosylation type is:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital disorder of glycosylation type i 8
congenital disorder of glycosylation, type is 9 22 46
dpm2-cdg 8 20
congenital disorder of glycosylation type is 48
congenital disorder of glycosylation type 1s 48
cdg syndrome type is 48
alg13-cdg 48
cdg-is 48
cdg1s 48


External Ids:

Disease Ontology8 DOID:0050570
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type I

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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 Type I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation30.9TF, HP
2congenital disorder of glycosylation type 1a30.3TF, HP
3congenital disorder of glycosylation type i/iix10.4
4muscular dystrophy-dystroglycanopathy10.0
5epilepsy syndrome10.0
6muscular dystrophy10.0
7congenital disorder of glycosylation, type iu10.0
8congenital disorder of glycosylation type 1g10.0
9congenital disorder of glycosylation type 1h10.0
10congenital disorder of glycosylation type 2d10.0
11aceruloplasminemia10.0HEPH
12age related macular degeneration10.0HEPH
13wilson disease10.0TF
14viral hepatitis10.0SERPINA1
15histiocytosis10.0PGM1
16microcytic anemia10.0TF
17siderosis10.0TF
18protein-energy malnutrition10.0TF
19atransferrinemia10.0HEPH, TF
20alcohol abuse10.0TF
21acute myocardial infarction10.0SERPINA1
22congenital hemolytic anemia10.0TF, HP
23hemoglobinopathy10.0HP, TF
24iron metabolism disease10.0TF, HEPH
25protein-losing enteropathy10.0TF, SERPINA1
26ankylosing spondylitis10.0SERPINA1, HP
27iron deficiency anemia10.0TF, HEPH
28pulmonary tuberculosis10.0PGM1, HP
29hemolytic anemia10.0HP, TF
30liver cirrhosis10.0TF, HP, SERPINA1
31hepatitis c10.0SERPINA1, HP, TF
32chronic kidney failure10.0TF, HP, SERPINA1
33galactosemia10.0SERPINA1, HP, TF
34nephrotic syndrome10.0TF, HP, SERPINA1
35hepatitis10.0SERPINA1, TF
36primary hyperoxaluria10.0TF, HP, SERPINA1
37hemochromatosis10.0SERPINA1, HP, TF, HEPH

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



Diseases related to congenital disorder of glycosylation type i

Clinical Features for Congenital Disorder of Glycosylation Type I

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46OMIM
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Clinical features from OMIM:

608540, 613661, 607906, 612015, 608799, 608776, 603147, 601110, 608104, 610768 212065, 609180, 612379, 612937, 607143, 602579, 608093, 300884 more

Clinical synopsis from OMIM:

300884

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type I

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

Search CenterWatch for Congenital Disorder of Glycosylation Type I

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type I

Search NIH Clinical Center for Congenital Disorder of Glycosylation Type I

Search CenterWatch for Congenital Disorder of Glycosylation Type I

Genetic Tests for Congenital Disorder of Glycosylation Type I

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

id Genetic test Affiliating Genes
1 Dpm2-Cdg (cdg-Iu)20 DPM2
2 Congenital Disorder of Glycosylation Type 1s22

Anatomical Context for Congenital Disorder of Glycosylation Type I

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

32
Liver

Animal Models for Congenital Disorder of Glycosylation Type I or affiliated genes

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Publications for Congenital Disorder of Glycosylation Type I

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50PubMed
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Articles related to Congenital Disorder of Glycosylation Type I:

idTitleAuthorsYear
1
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. (22492991)
2012
2
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. (19729382)
2009
3
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. (16079417)
2005
4
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). (16435229)
2005
5
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. (14973782)
2004
6
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. (12626422)
2003
7
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
8
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
9
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. (11901181)
2002
10
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. (11583570)
2001

Genetic Variations for Congenital Disorder of Glycosylation Type I

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

62
id Symbol AA change Variation ID SNP ID
1ALG13p.Lys94GluVAR_069218

Expression for genes affiliated with Congenital Disorder of Glycosylation Type I

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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 Type I

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

Pathways for genes affiliated with Congenital Disorder of Glycosylation Type I

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8ALG13, DPM2
29.3TF, HEPH
39.0PGM1, TF

Compounds for genes affiliated with Congenital Disorder of Glycosylation Type I

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1copper44 2411.3HEPH
2zinc protoporphyrin449.7HP, TF
3protoporphyrin ix44 11 2411.7TF, HP
4tocopherol449.6HP, TF
5starch449.6TF, HP
68-isoprostane449.5TF, HP
7vitamin b12449.4HP, TF
8cellulose acetate449.3HP, PGM1
9deferoxamine44 1110.3TF, HP
10vitamin a44 11 2411.1SERPINA1, HP, TF
11ribavirin44 49 1111.1HP, TF
12ascorbic acid44 2410.1SERPINA1, HP, TF
13polysaccharide449.0SERPINA1, HP, TF
14agarose449.0HP, PGM1, SERPINA1
15polyacrylamide448.9HP, PGM1, SERPINA1
16fibrinogen448.9SERPINA1, HP, TF
17iron44 249.7SERPINA1, HP, TF, HEPH

GO Terms for genes affiliated with Congenital Disorder of Glycosylation Type I

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16Gene Ontology
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Biological processes related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acute-phase responseGO:0069539.5SERPINA1, HP
2dolichol-linked oligosaccharide biosynthetic processGO:0064889.5ALG13, DPM2
3cellular iron ion homeostasisGO:0068798.8HP, TF, HEPH

Products for genes affiliated with Congenital Disorder of Glycosylation Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type I

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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