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 25
Congenital Disorder of Glycosylation Type 1k 25 29 6 73
Carbohydrate Deficient Glycoprotein Syndrome Type Ik 25
Mannosyltransferase 1 Deficiency 25
Cdg1k 25
Cdgik 25

External Ids:

UMLS 73 C2931005

Summaries for Alg1-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 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 29 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
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
2 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh38 Chromosome 16, 5078789: 5078789
3 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 GRCh37 Chromosome 16, 5131010: 5131010
4 ALG1 NM_019109.4(ALG1): c.1025A> C (p.Gln342Pro) single nucleotide variant Pathogenic rs267606651 GRCh38 Chromosome 16, 5081009: 5081009
5 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 GRCh37 Chromosome 16, 5125448: 5125448
6 ALG1 NM_019109.4(ALG1): c.450C> G (p.Ser150Arg) single nucleotide variant Pathogenic rs121908340 GRCh38 Chromosome 16, 5075447: 5075447
7 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 GRCh37 Chromosome 16, 5132616: 5132616
8 ALG1 NM_019109.4(ALG1): c.1129A> G (p.Met377Val) single nucleotide variant Pathogenic rs387906925 GRCh38 Chromosome 16, 5082615: 5082615
9 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 GRCh37 Chromosome 16, 5125432: 5125432
10 ALG1 NM_019109.4(ALG1): c.434G> A (p.Gly145Asp) single nucleotide variant Pathogenic rs387906926 GRCh38 Chromosome 16, 5075431: 5075431
11 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 GRCh37 Chromosome 16, 5133683: 5133683
12 ALG1 NM_019109.4(ALG1): c.1188T> A (p.Cys396Ter) single nucleotide variant Pathogenic rs387906927 GRCh38 Chromosome 16, 5083682: 5083682
13 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs151173406 GRCh37 Chromosome 16, 5128843: 5128843
14 ALG1 NM_019109.4(ALG1): c.826C> T (p.Arg276Trp) single nucleotide variant Pathogenic rs151173406 GRCh38 Chromosome 16, 5078842: 5078842
15 ALG1 NM_019109.4(ALG1): c.800G> A (p.Ser267Asn) single nucleotide variant Benign/Likely benign rs17849848 GRCh37 Chromosome 16, 5128817: 5128817
16 ALG1 NM_019109.4(ALG1): c.800G> A (p.Ser267Asn) single nucleotide variant Benign/Likely benign rs17849848 GRCh38 Chromosome 16, 5078816: 5078816
17 ALG1 NM_019109.4(ALG1): c.149A> G (p.Gln50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794726944 GRCh37 Chromosome 16, 5121999: 5121999
18 ALG1 NM_019109.4(ALG1): c.149A> G (p.Gln50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794726944 GRCh38 Chromosome 16, 5071998: 5071998
19 ALG1 NM_019109.4(ALG1): c.15C> A (p.Cys5Ter) single nucleotide variant Pathogenic rs752922461 GRCh37 Chromosome 16, 5121865: 5121865
20 ALG1 NM_019109.4(ALG1): c.15C> A (p.Cys5Ter) single nucleotide variant Pathogenic rs752922461 GRCh38 Chromosome 16, 5071864: 5071864
21 ALG1 NM_019109.4(ALG1): c.191C> A (p.Thr64Asn) single nucleotide variant Likely benign rs145474820 GRCh37 Chromosome 16, 5122041: 5122041
22 ALG1 NM_019109.4(ALG1): c.191C> A (p.Thr64Asn) single nucleotide variant Likely benign rs145474820 GRCh38 Chromosome 16, 5072040: 5072040
23 ALG1 NM_019109.4(ALG1): c.1188-2A> G single nucleotide variant Pathogenic rs794727073 GRCh37 Chromosome 16, 5133681: 5133681
24 ALG1 NM_019109.4(ALG1): c.1188-2A> G single nucleotide variant Pathogenic rs794727073 GRCh38 Chromosome 16, 5083680: 5083680
25 ALG1 NM_019109.4(ALG1): c.262T> G (p.Leu88Val) single nucleotide variant Likely pathogenic rs794727301 GRCh37 Chromosome 16, 5123005: 5123005
26 ALG1 NM_019109.4(ALG1): c.262T> G (p.Leu88Val) single nucleotide variant Likely pathogenic rs794727301 GRCh38 Chromosome 16, 5073004: 5073004
27 ALG1 NM_019109.4(ALG1): c.1187+3A> G single nucleotide variant Likely pathogenic rs369160589 GRCh37 Chromosome 16, 5132677: 5132677
28 ALG1 NM_019109.4(ALG1): c.1187+3A> G single nucleotide variant Likely pathogenic rs369160589 GRCh38 Chromosome 16, 5082676: 5082676
29 ALG1 NM_019109.4(ALG1): c.115delG (p.Val39Cysfs) deletion Pathogenic rs886042130 GRCh37 Chromosome 16, 5121965: 5121965
30 ALG1 NM_019109.4(ALG1): c.115delG (p.Val39Cysfs) deletion Pathogenic rs886042130 GRCh38 Chromosome 16, 5071964: 5071964
31 ALG1 NM_019109.4(ALG1): c.554T> G (p.Phe185Cys) single nucleotide variant Benign/Likely benign rs112668461 GRCh37 Chromosome 16, 5127460: 5127460
32 ALG1 NM_019109.4(ALG1): c.554T> G (p.Phe185Cys) single nucleotide variant Benign/Likely benign rs112668461 GRCh38 Chromosome 16, 5077459: 5077459
33 ALG1 NM_019109.4(ALG1): c.334A> C (p.Met112Leu) single nucleotide variant Benign rs113219939 GRCh37 Chromosome 16, 5123201: 5123201
34 ALG1 NM_019109.4(ALG1): c.334A> C (p.Met112Leu) single nucleotide variant Benign rs113219939 GRCh38 Chromosome 16, 5073200: 5073200
35 ALG1 NM_019109.4(ALG1): c.1136T> G (p.Val379Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 5132623: 5132623
36 ALG1 NM_019109.4(ALG1): c.1136T> G (p.Val379Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 5082622: 5082622
37 ALG1 NM_019109.4(ALG1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs1051082443 GRCh38 Chromosome 16, 5071991: 5071991
38 ALG1 NM_019109.4(ALG1): c.142C> T (p.Arg48Cys) single nucleotide variant Uncertain significance rs1051082443 GRCh37 Chromosome 16, 5121992: 5121992
39 ALG1 NM_019109.4(ALG1): c.827G> A (p.Arg276Gln) single nucleotide variant Uncertain significance rs201975029 GRCh37 Chromosome 16, 5128844: 5128844
40 ALG1 NM_019109.4(ALG1): c.827G> A (p.Arg276Gln) single nucleotide variant Uncertain significance rs201975029 GRCh38 Chromosome 16, 5078843: 5078843
41 ALG1 NM_019109.4(ALG1): c.876C> G (p.Phe292Leu) single nucleotide variant Likely pathogenic rs1009298200 GRCh37 Chromosome 16, 5129078: 5129078
42 ALG1 NM_019109.4(ALG1): c.876C> G (p.Phe292Leu) single nucleotide variant Likely pathogenic rs1009298200 GRCh38 Chromosome 16, 5079077: 5079077
43 ALG1 NM_019109.4(ALG1): c.877T> C (p.Ser293Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 5129079: 5129079
44 ALG1 NM_019109.4(ALG1): c.877T> C (p.Ser293Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 5079078: 5079078

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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