MCID: CNG013
MIFTS: 48

Congenital Disorder of Glycosylation Type I malady

Genetic diseases, Neuronal diseases, Liver diseases, Rare diseases, Ear diseases, Fetal diseases, Skin diseases, Cardiovascular diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Bone diseases, Eye diseases, Muscle diseases categories

Summaries for Congenital Disorder of Glycosylation Type I

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9Disease Ontology, 48OMIM, 34MalaCards
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Disease Ontology:9 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:48 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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9Disease Ontology, 21GeneTests, 10diseasecard, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9
congenital disorder of glycosylation, type is 10 23 48
dpm2-cdg 9 21
congenital disorder of glycosylation type is 50
congenital disorder of glycosylation type 1s 50
cdg syndrome type is 50
alg13-cdg 50
cdg-is 50
cdg1s 50


External Ids:

Disease Ontology9 DOID:0050570
ICD10 via Orphanet27 E77.8

Related Diseases for Congenital Disorder of Glycosylation Type I

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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 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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Congenital Disorder of Glycosylation Type I:

id Genetic test Affiliating Genes
1 Dpm2-Cdg (cdg-Iu)21 DPM2
2 Congenital Disorder of Glycosylation Type 1s23

Anatomical Context for Congenital Disorder of Glycosylation Type I

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

34
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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53PubMed
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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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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 Type I:

65
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, 16Gene 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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51PathCards, 56Reactome, 31KEGG
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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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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 3BitterDB, 30IUPHAR
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Compounds related to Congenital Disorder of Glycosylation Type I according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1zinc protoporphyrin469.4HP, TF
2protoporphyrin ix46 25 1211.4TF, HP
3tocopherol469.4HP, TF
4starch469.4HP, TF
58-isoprostane469.3TF, HP
6deferoxamine46 1210.3TF, HP
7ribavirin46 52 1211.3HP, TF
8vitamin b12469.3HP, TF
9chloroquine46 3 52 30 1213.3TF, HP
10polyethylene glycol469.3HP, TF
11sialic acid469.3HP, TF
12citrate469.2TF, HP
13carbohydrates469.2HP, TF
14thyroxine46 2510.2HP, TF
15folate469.1TF, HP
16vitamin a46 25 1211.1HP, TF
17epinephrine46 25 1211.0HP, TF
18fibrinogen469.0HP, TF
19ascorbic acid46 259.9TF, HP
20copper46 259.9HP, HEPH, TF
21iron46 259.8HP, HEPH, TF
22polysaccharide468.7HP, TF

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

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17Gene 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
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