MCID: ALG024
MIFTS: 9

Alg6-Congenital Disorder of Glycosylation

Aliases & Classifications for Alg6-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg6-Congenital Disorder of Glycosylation:

Name: Alg6-Congenital Disorder of Glycosylation 24
Carbohydrate-Deficient Glycoprotein Syndrome Type Ic 24
Carbohydrate-Deficient Glycoprotein Syndrome Type V 24
Congenital Disorder of Glycosylation Type Ic 24
Congenital Disorder of Glycosylation Type 1c 69
Glucosyltransferase 1 Deficiency 24
Cdg Syndrome Type Ic 24
Cdg1c 24
Cdgic 24

External Ids:

UMLS 69 C2930997

Summaries for Alg6-Congenital Disorder of Glycosylation

Genetics Home Reference : 24 ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.

MalaCards based summary : Alg6-Congenital Disorder of Glycosylation, also known as carbohydrate-deficient glycoprotein syndrome type ic, is related to congenital disorder of glycosylation, type ic, and has symptoms including ataxia and seizures. An important gene associated with Alg6-Congenital Disorder of Glycosylation is ALG6 (ALG6, Alpha-1,3-Glucosyltransferase).

Related Diseases for Alg6-Congenital Disorder of Glycosylation

Diseases related to Alg6-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ic 11.2

Symptoms & Phenotypes for Alg6-Congenital Disorder of Glycosylation

UMLS symptoms related to Alg6-Congenital Disorder of Glycosylation:


ataxia, seizures

Drugs & Therapeutics for Alg6-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg6-Congenital Disorder of Glycosylation

Genetic Tests for Alg6-Congenital Disorder of Glycosylation

Anatomical Context for Alg6-Congenital Disorder of Glycosylation

Publications for Alg6-Congenital Disorder of Glycosylation

Articles related to Alg6-Congenital Disorder of Glycosylation:

# Title Authors Year
1
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. ( 10359825 )
1999

Variations for Alg6-Congenital Disorder of Glycosylation

ClinVar genetic disease variations for Alg6-Congenital Disorder of Glycosylation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG6 NM_013339.3(ALG6): c.897_899delAAT (p.Ile299del) deletion Pathogenic rs387906338 GRCh37 Chromosome 1, 63879812: 63879814
2 ALG6 ALG6, IVS7DS, T-G, +2 single nucleotide variant Pathogenic
3 ALG6 NM_013339.3(ALG6): c.257+5G> A single nucleotide variant Pathogenic rs199682486 GRCh37 Chromosome 1, 63868019: 63868019
4 ALG6 NM_013339.3(ALG6): c.998C> T (p.Ala333Val) single nucleotide variant Pathogenic rs121908443 GRCh37 Chromosome 1, 63885051: 63885051
5 ALG6 NM_013339.3(ALG6): c.1432T> C (p.Ser478Pro) single nucleotide variant Pathogenic rs121908444 GRCh37 Chromosome 1, 63902599: 63902599
6 ALG6 ALG6, IVS3DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Alg6-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg6-Congenital Disorder of Glycosylation.

Pathways for Alg6-Congenital Disorder of Glycosylation

GO Terms for Alg6-Congenital Disorder of Glycosylation

Sources for Alg6-Congenital Disorder of Glycosylation

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11 DGIdb
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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