MCID: CNG013
MIFTS: 33

Congenital Disorder of Glycosylation Type I malady

Neuronal, Liver, Metabolic categories

Summaries for Congenital Disorder of Glycosylation Type I

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8Disease Ontology, 47OMIM, 33MalaCards
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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 type 1a and congenital disorder of glycosylation type i/iix. 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.

Description from OMIM:47 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

Sources:
8Disease Ontology, 20GeneTests, 9diseasecard, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
dpm2-cdg 8 20
congenital disorder of glycosylation type is 49
congenital disorder of glycosylation type 1s 49
cdg syndrome type is 49
alg13-cdg 49
cdg-is 49
cdg1s 49


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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation type 1a30.4TF, HP
2congenital disorder of glycosylation type i/iix10.4
3micro syndrome10.0
4muscular dystrophy-dystroglycanopathy10.0
5muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.0
6muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.0
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
23congenital disorder of glycosylation10.0TF, HP
24hemoglobinopathy10.0HP, TF
25iron metabolism disease10.0TF, HEPH
26protein-losing enteropathy10.0TF, SERPINA1
27ankylosing spondylitis10.0SERPINA1, HP
28iron deficiency anemia10.0TF, HEPH
29pulmonary tuberculosis10.0PGM1, HP
30hemolytic anemia10.0HP, TF
31liver cirrhosis10.0TF, HP, SERPINA1
32hepatitis c10.0SERPINA1, HP, TF
33chronic kidney failure10.0TF, HP, SERPINA1
34galactosemia10.0SERPINA1, HP, TF
35nephrotic syndrome10.0TF, HP, SERPINA1
36hepatitis10.0SERPINA1, TF
37primary hyperoxaluria10.0TF, HP, SERPINA1
38hemochromatosis10.0SERPINA1, 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

Sources:
47OMIM
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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

Sources:
5CenterWatch, 42NIH 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

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

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

Genetic Variations for Congenital Disorder of Glycosylation Type I

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

63
id Symbol AA change Variation SNP ID
1ALG13p.Lys94GluVAR_069218

Expression for genes affiliated with Congenital Disorder of Glycosylation Type I

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
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Compounds related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1copper45 2411.3HEPH
2zinc protoporphyrin459.7HP, TF
3protoporphyrin ix45 11 2411.7TF, HP
4tocopherol459.6HP, TF
5starch459.6TF, HP
68-isoprostane459.5TF, HP
7vitamin b12459.4HP, TF
8cellulose acetate459.3HP, PGM1
9deferoxamine45 1110.3TF, HP
10vitamin a45 11 2411.1SERPINA1, HP, TF
11ribavirin45 50 1111.1HP, TF
12ascorbic acid45 2410.1SERPINA1, HP, TF
13polysaccharide459.0SERPINA1, HP, TF
14agarose459.0HP, PGM1, SERPINA1
15polyacrylamide458.9HP, PGM1, SERPINA1
16fibrinogen458.9SERPINA1, HP, TF
17iron45 249.7SERPINA1, HP, TF, HEPH

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

Sources:
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

  • Antibodies
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  • Antibodies

Sources for Congenital Disorder of Glycosylation Type I

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