MCID: CNG013
MIFTS: 48

Congenital Disorder of Glycosylation Type I malady

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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 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 Insulin receptor recycling and Mineral absorption. The compounds zinc protoporphyrin and protoporphyrin ix have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:47 607143, 602579, 603147, 608776, 607906 610768, 608540, 608093, 612015, 612937, 601110, 608104, 613661, 212065, 612379, 609180, 608799, 300884 more

Aliases & Classifications for Congenital Disorder of Glycosylation Type I

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



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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation31.1HP, TF
2congenital disorder of glycosylation type 1a30.5TF, HP
3congenital disorder of glycosylation type i/iix10.4
4aceruloplasminemia10.1HEPH
5muscular dystrophy-dystroglycanopathy10.0
6muscular dystrophy10.0
7congenital disorder of glycosylation, type iu10.0
8atransferrinemia10.0TF, HEPH
9iron deficiency anemia10.0HEPH, TF
10congenital disorder of glycosylation type 1g10.0
11congenital disorder of glycosylation type 1h10.0
12congenital disorder of glycosylation type 2d10.0
13iron metabolism disease10.0HEPH, TF
14congenital hemolytic anemia10.0TF, HP
15hemoglobinopathy10.0TF, HP
16sickle cell disease10.0HP, TF
17hemolytic anemia10.0HP, TF
18nephrotic syndrome10.0TF, HP
19fatty liver disease10.0TF, HP
20diabetic nephropathy10.0TF, HP
21liver cirrhosis10.0HP, TF
22proteinuria10.0HP, TF
23primary hyperoxaluria10.0TF, HP
24vascular disease10.0TF, HP
25galactosemia10.0TF, HP
26hemochromatosis10.0HP, HEPH, TF
27chronic kidney failure10.0TF, HP
28deficiency anemia10.0TF, HEPH, HP
29hepatitis c10.0TF, HP

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



Diseases related to congenital disorder of glycosylation type i

Symptoms for Congenital Disorder of Glycosylation Type I

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47OMIM
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Symptoms by clinical synopsis from OMIM:

300884

Clinical features from OMIM:

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

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type I

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type I

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Congenital Disorder of Glycosylation Type I:

33
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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52PubMed
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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
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). (16435229)
2005
4
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. (12626422)
2003
5
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. (11916311)
2002
6
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. (11583570)
2001

Variations for Congenital Disorder of Glycosylation Type I

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation Type I:

64
id Symbol AA change Variation ID SNP ID
1ALG13p.Lys94GluVAR_069218

Clinvar genetic disease variations for Congenital Disorder of Glycosylation Type I:

1
id Gene Name Type Significance SNP ID Assembly Location
1ALG13NM_001099922.2(ALG13): c.339A> G (p.Ala113=)single nucleotide variantPathogenicrs397514587GRCh37Chr X, 110928287: 110928287
2ALG13NM_001099922.2(ALG13): c.320A> G (p.Asn107Ser)single nucleotide variantPathogenicrs398122394GRCh37Chr X, 110928268: 110928268

Expression for genes affiliated with Congenital Disorder of Glycosylation Type I

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2BioGPS, 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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50PathCards, 55Reactome, 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
Show member pathways
9.1HEPH, TF
29.1HEPH, TF

Compounds for genes affiliated with Congenital Disorder of Glycosylation Type I

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB, 3BitterDB, 29IUPHAR
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Compounds related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1zinc protoporphyrin459.4HP, TF
2protoporphyrin ix45 24 1111.4TF, HP
3tocopherol459.4HP, TF
4starch459.4HP, TF
58-isoprostane459.3TF, HP
6deferoxamine45 1110.3TF, HP
7ribavirin45 51 1111.3HP, TF
8vitamin b12459.3HP, TF
9chloroquine45 3 51 29 1113.3TF, HP
10polyethylene glycol459.3HP, TF
11sialic acid459.3HP, TF
12citrate459.2TF, HP
13carbohydrates459.2HP, TF
14thyroxine45 2410.2HP, TF
15folate459.1TF, HP
16vitamin a45 24 1111.1HP, TF
17epinephrine45 24 1111.0HP, TF
18fibrinogen459.0HP, TF
19ascorbic acid45 249.9TF, HP
20copper45 249.9HP, HEPH, TF
21iron45 249.8HP, HEPH, TF
22polysaccharide458.7HP, TF

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

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.0HP, TF
2perinuclear region of cytoplasmGO:0484718.3DPM2, HEPH, TF

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

idNameGO IDScoreTop Affiliating Genes
1dolichol-linked oligosaccharide biosynthetic processGO:0064889.5ALG13, DPM2
2post-translational protein modificationGO:0436879.5ALG13, DPM2
3protein N-linked glycosylation via asparagineGO:0182799.2ALG13, DPM2
4cellular iron ion homeostasisGO:0068799.0HEPH, TF

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet