CDGIT
MCID: CNG379
MIFTS: 28

Congenital Disorder of Glycosylation, Type It (CDGIT) malady

Liver diseases, Metabolic diseases categories

Summaries for Congenital Disorder of Glycosylation, Type It

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46OMIM, 32MalaCards
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MalaCards: Congenital Disorder of Glycosylation, Type It, also known as pgm-cdg, is related to microcephaly and congenital myasthenic syndrome. An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (phosphoglucomutase 1), and among its related pathways are Transport of nucleotide sugars and Transport of organic anions. Affiliated tissues include liver.

Description from OMIM:46 614921

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pgm-cdg:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital disorder of glycosylation, type it 46
pgm-cdg 48
cdgit 48


External Ids:

OMIM46 614921
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation, Type It

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

idRelated DiseaseScoreTop Affiliating Genes
1microcephaly10.0ALG3
2congenital myasthenic syndrome10.0DPAGT1
3cutis laxa10.0COG7
4congenital disorder of glycosylation10.0COG7, COG1, COG8, MPDU1, DPAGT1, SLC35A1

Clinical Features for Congenital Disorder of Glycosylation, Type It

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46OMIM
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Clinical features from OMIM:

614921

Clinical synopsis from OMIM:

614921

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

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

Search CenterWatch for Congenital Disorder of Glycosylation, Type It

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type It

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type It

Search CenterWatch for Congenital Disorder of Glycosylation, Type It

Genetic Tests for Congenital Disorder of Glycosylation, Type It

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Anatomical Context for Congenital Disorder of Glycosylation, Type It

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

32
Liver

Animal Models for Congenital Disorder of Glycosylation, Type It or affiliated genes

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Publications for Congenital Disorder of Glycosylation, Type It

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Genetic Variations for Congenital Disorder of Glycosylation, Type It

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

62
id Symbol AA change Variation ID SNP ID
1PGM1p.Gly121ArgVAR_069219

Expression for genes affiliated with Congenital Disorder of Glycosylation, Type It

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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 It

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

Pathways for genes affiliated with Congenital Disorder of Glycosylation, Type It

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Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Congenital Disorder of Glycosylation, Type It

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GO Terms for genes affiliated with Congenital Disorder of Glycosylation, Type It

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00578310.0ALG1, SRD5A3, MPDU1, ALG12
2Golgi transport complexGO:0171199.9COG4, COG7, COG1, COG8, COG5
3Golgi membraneGO:0001399.5SLC35A1, COG5, COG8, COG1, SLC35C1, COG7
4endoplasmic reticulum membraneGO:0057899.3ALG8, ALG1, ALG2, ALG3, SRD5A3, DPAGT1
5integral to membraneGO:0160218.7RFT1, MPDU1, DPAGT1, SLC35C1, SRD5A3, ALG3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1intra-Golgi vesicle-mediated transportGO:00689110.2COG5, COG1
2Golgi organizationGO:00703010.2COG4, COG1
3carbohydrate transportGO:00864310.2RFT1, SLC35C1
4protein N-linked glycosylationGO:00648710.2ALG12, DPAGT1, ALG8, ALG6
5protein glycosylationGO:00648610.1ALG1, COG7, ALG3, SRD5A3
6retrograde vesicle-mediated transport, Golgi to ERGO:0068909.9COG7, COG4
7protein transportGO:0150319.9COG5, COG4, COG8, COG1
8protein N-linked glycosylation via asparagineGO:0182799.6DPAGT1, ALG1, RFT1, ALG3, ALG2, ALG8
9post-translational protein modificationGO:0436879.6ALG11, ALG12, ALG9, ALG8, ALG2, ALG3
10cellular protein metabolic processGO:0442679.5ALG1, ALG2, ALG3, DPAGT1, ALG9, ALG11
11dolichol-linked oligosaccharide biosynthetic processGO:0064889.3ALG1, RFT1, ALG6, ALG12, ALG9, ALG8

Molecular functions related to Congenital Disorder of Glycosylation, Type It according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-1,3-mannosyltransferase activityGO:00003310.1ALG8, ALG2, ALG3

Products for genes affiliated with Congenital Disorder of Glycosylation, Type It

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation, Type It

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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