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

Summaries for Congenital Disorder of Glycosylation, Type It

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48OMIM, 34MalaCards
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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:48 614921

Aliases & Classifications for Congenital Disorder of Glycosylation, Type It

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
pgm-cdg:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital disorder of glycosylation, type it 48
pgm-cdg 50
cdgit 50


External Ids:

OMIM48 614921
ICD10 via Orphanet27 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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Sources:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type It:

34
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:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type It:

65
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, 16Gene 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
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