CDGIT
MCID: CNG379
MIFTS: 19

Congenital Disorder of Glycosylation, Type It (CDGIT) malady

Genetic diseases, Liver diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Skin diseases, Cardiovascular diseases, Gastrointestinal diseases, Nephrological diseases, Blood diseases, Bone diseases, Eye diseases, Muscle diseases categories
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Summaries for Congenital Disorder of Glycosylation, Type It

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Sources:
47OMIM, 33MalaCards
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MalaCards: Congenital Disorder of Glycosylation, Type It, is also known as pgm-cdg An important gene associated with Congenital Disorder of Glycosylation, Type It is PGM1 (phosphoglucomutase 1). Affiliated tissues include liver.

Description from OMIM:47 614921

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

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Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
pgm-cdg:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital disorder of glycosylation, type it 47
pgm-cdg 49
cdgit 49


External Ids:

OMIM47 614921
ICD10 via Orphanet26 E77.8

Related Diseases for Congenital Disorder of Glycosylation, Type It

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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

Symptoms for Congenital Disorder of Glycosylation, Type It

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47OMIM
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Symptoms by clinical synopsis from OMIM:

614921

Clinical features from OMIM:

614921

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type It

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation, Type It

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

33
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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Variations for Congenital Disorder of Glycosylation, Type It

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Sources:
64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type It:

64
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation, Type It

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

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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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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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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