MCID: ALG025
MIFTS: 7

Alg1-Congenital Disorder of Glycosylation

Aliases & Classifications for Alg1-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg1-Congenital Disorder of Glycosylation:

Name: Alg1-Congenital Disorder of Glycosylation 24
Congenital Disorder of Glycosylation Type 1k 24 28 69
Carbohydrate Deficient Glycoprotein Syndrome Type Ik 24
Mannosyltransferase 1 Deficiency 24
Cdg1k 24
Cdgik 24

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UMLS 69 C2931005

Summaries for Alg1-Congenital Disorder of Glycosylation

Genetics Home Reference : 24 ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.

MalaCards based summary : Alg1-Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation type 1k, is related to congenital disorder of glycosylation, type ik. An important gene associated with Alg1-Congenital Disorder of Glycosylation is ALG1 (ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase).

Related Diseases for Alg1-Congenital Disorder of Glycosylation

Diseases related to Alg1-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 ik 11.7

Symptoms & Phenotypes for Alg1-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Alg1-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg1-Congenital Disorder of Glycosylation

Genetic Tests for Alg1-Congenital Disorder of Glycosylation

Genetic tests related to Alg1-Congenital Disorder of Glycosylation:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1k 28 ALG1

Anatomical Context for Alg1-Congenital Disorder of Glycosylation

Publications for Alg1-Congenital Disorder of Glycosylation

Variations for Alg1-Congenital Disorder of Glycosylation

ClinVar genetic disease variations for Alg1-Congenital Disorder of Glycosylation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 GRCh37 Chromosome 16, 5132616: 5132616
2 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 GRCh37 Chromosome 16, 5125432: 5125432
3 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 GRCh37 Chromosome 16, 5133683: 5133683
4 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs151173406 GRCh37 Chromosome 16, 5128843: 5128843
5 ALG1 NM_019109.4(ALG1): c.15C> A (p.Cys5Ter) single nucleotide variant Pathogenic rs752922461 GRCh37 Chromosome 16, 5121865: 5121865
6 ALG1 NM_019109.4(ALG1): c.1188-2A> G single nucleotide variant Pathogenic rs794727073 GRCh37 Chromosome 16, 5133681: 5133681
7 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
8 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 GRCh37 Chromosome 16, 5131010: 5131010
9 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 GRCh37 Chromosome 16, 5125448: 5125448
10 ALG1 NM_019109.4(ALG1): c.115delG (p.Val39Cysfs) deletion Pathogenic rs886042130 GRCh37 Chromosome 16, 5121965: 5121965

Expression for Alg1-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg1-Congenital Disorder of Glycosylation.

Pathways for Alg1-Congenital Disorder of Glycosylation

GO Terms for Alg1-Congenital Disorder of Glycosylation

Sources for Alg1-Congenital Disorder of Glycosylation

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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