MCID: ALG019
MIFTS: 9

Alg12-Congenital Disorder of Glycosylation

Aliases & Classifications for Alg12-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg12-Congenital Disorder of Glycosylation:

Name: Alg12-Congenital Disorder of Glycosylation 26 30 6
Congenital Disorder of Glycosylation Type 1g 26 74
Congenital Disorder of Glycosylation Type Ig 26
Cdg Ig 26
Cdg1g 26

External Ids:

UMLS 74 C2931001

Summaries for Alg12-Congenital Disorder of Glycosylation

Genetics Home Reference : 26 ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.

MalaCards based summary : Alg12-Congenital Disorder of Glycosylation, also known as congenital disorder of glycosylation type 1g, is related to congenital disorder of glycosylation, type ig and congenital disorder of glycosylation, type in. An important gene associated with Alg12-Congenital Disorder of Glycosylation is ALG12 (ALG12 Alpha-1,6-Mannosyltransferase).

Related Diseases for Alg12-Congenital Disorder of Glycosylation

Diseases related to Alg12-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 ig 11.4
2 congenital disorder of glycosylation, type in 10.2

Symptoms & Phenotypes for Alg12-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Alg12-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg12-Congenital Disorder of Glycosylation

Genetic Tests for Alg12-Congenital Disorder of Glycosylation

Genetic tests related to Alg12-Congenital Disorder of Glycosylation:

# Genetic test Affiliating Genes
1 Alg12-Congenital Disorder of Glycosylation 30 ALG12

Anatomical Context for Alg12-Congenital Disorder of Glycosylation

Publications for Alg12-Congenital Disorder of Glycosylation

Articles related to Alg12-Congenital Disorder of Glycosylation:

# Title Authors Year
1
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. ( 12217961 )
2002
2
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. ( 12093361 )
2002

Variations for Alg12-Congenital Disorder of Glycosylation

ClinVar genetic disease variations for Alg12-Congenital Disorder of Glycosylation:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG12 NM_024105.3(ALG12): c.424T> G (p.Phe142Val) single nucleotide variant Pathogenic rs28942090 GRCh37 Chromosome 22, 50304127: 50304127
2 ALG12 NM_024105.3(ALG12): c.424T> G (p.Phe142Val) single nucleotide variant Pathogenic rs28942090 GRCh38 Chromosome 22, 49910479: 49910479
3 ALG12 NM_024105.3(ALG12): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs121907931 GRCh37 Chromosome 22, 50307128: 50307128
4 ALG12 NM_024105.3(ALG12): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs121907931 GRCh38 Chromosome 22, 49913480: 49913480
5 ALG12 NM_024105.3(ALG12): c.437G> A (p.Arg146Gln) single nucleotide variant Pathogenic rs121907932 GRCh37 Chromosome 22, 50304114: 50304114
6 ALG12 NM_024105.3(ALG12): c.437G> A (p.Arg146Gln) single nucleotide variant Pathogenic rs121907932 GRCh38 Chromosome 22, 49910466: 49910466
7 ALG12 NM_024105.3(ALG12): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs121907933 GRCh37 Chromosome 22, 50304250: 50304250
8 ALG12 NM_024105.3(ALG12): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs121907933 GRCh38 Chromosome 22, 49910602: 49910602
9 ALG12 NM_024105.3(ALG12): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121907934 GRCh37 Chromosome 22, 50303733: 50303733
10 ALG12 NM_024105.3(ALG12): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121907934 GRCh38 Chromosome 22, 49910085: 49910085
11 ALG12 NM_024105.3(ALG12): c.1242C> G (p.Tyr414Ter) single nucleotide variant Pathogenic rs121907935 GRCh37 Chromosome 22, 50297711: 50297711
12 ALG12 NM_024105.3(ALG12): c.1242C> G (p.Tyr414Ter) single nucleotide variant Pathogenic rs121907935 GRCh38 Chromosome 22, 49904063: 49904063
13 ALG12 NM_024105.3(ALG12): c.631C> T (p.Arg211Cys) single nucleotide variant Benign rs144665682 GRCh37 Chromosome 22, 50303575: 50303575
14 ALG12 NM_024105.3(ALG12): c.631C> T (p.Arg211Cys) single nucleotide variant Benign rs144665682 GRCh38 Chromosome 22, 49909927: 49909927
15 ALG12 NM_024105.3(ALG12): c.1001delA (p.Asn334Thrfs) deletion Pathogenic rs759244819 GRCh38 Chromosome 22, 49904498: 49904498
16 ALG12 NM_024105.3(ALG12): c.1001delA (p.Asn334Thrfs) deletion Pathogenic rs759244819 GRCh37 Chromosome 22, 50298146: 50298146
17 ALG12 NM_024105.3(ALG12): c.117delG (p.Gln40Argfs) deletion Pathogenic rs761221480 GRCh37 Chromosome 22, 50307297: 50307297
18 ALG12 NM_024105.3(ALG12): c.117delG (p.Gln40Argfs) deletion Pathogenic rs761221480 GRCh38 Chromosome 22, 49913649: 49913649
19 ALG12 NM_024105.3(ALG12): c.99G> A (p.Val33=) single nucleotide variant Benign/Likely benign rs76707654 GRCh38 Chromosome 22, 49913667: 49913667
20 ALG12 NM_024105.3(ALG12): c.99G> A (p.Val33=) single nucleotide variant Benign/Likely benign rs76707654 GRCh37 Chromosome 22, 50307315: 50307315
21 ALG12 NM_024105.3(ALG12): c.1029G> A (p.Ala343=) single nucleotide variant Benign/Likely benign rs62233155 GRCh38 Chromosome 22, 49904470: 49904470
22 ALG12 NM_024105.3(ALG12): c.1029G> A (p.Ala343=) single nucleotide variant Benign/Likely benign rs62233155 GRCh37 Chromosome 22, 50298118: 50298118
23 ALG12 NM_024105.3(ALG12): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs746215829 GRCh37 Chromosome 22, 50301430: 50301430
24 ALG12 NM_024105.3(ALG12): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs746215829 GRCh38 Chromosome 22, 49907782: 49907782
25 ALG12 NM_024105.3(ALG12): c.671C> T (p.Thr224Met) single nucleotide variant Uncertain significance rs755892540 GRCh37 Chromosome 22, 50302989: 50302989
26 ALG12 NM_024105.3(ALG12): c.671C> T (p.Thr224Met) single nucleotide variant Uncertain significance rs755892540 GRCh38 Chromosome 22, 49909341: 49909341
27 ALG12 NM_024105.3(ALG12): c.207C> T (p.Leu69=) single nucleotide variant Likely benign rs765297992 GRCh37 Chromosome 22, 50307121: 50307121
28 ALG12 NM_024105.3(ALG12): c.207C> T (p.Leu69=) single nucleotide variant Likely benign rs765297992 GRCh38 Chromosome 22, 49913473: 49913473
29 ALG12 NM_024105.3(ALG12): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs377095724 GRCh38 Chromosome 22, 49904451: 49904451
30 ALG12 NM_024105.3(ALG12): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs377095724 GRCh37 Chromosome 22, 50298099: 50298099
31 ALG12 NM_024105.3(ALG12): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs1555930118 GRCh37 Chromosome 22, 50304184: 50304184
32 ALG12 NM_024105.3(ALG12): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic rs1555930118 GRCh38 Chromosome 22, 49910536: 49910536
33 ALG12 NM_024105.3(ALG12): c.644C> T (p.Pro215Leu) single nucleotide variant Uncertain significance rs777173365 GRCh38 Chromosome 22, 49909914: 49909914
34 ALG12 NM_024105.3(ALG12): c.644C> T (p.Pro215Leu) single nucleotide variant Uncertain significance rs777173365 GRCh37 Chromosome 22, 50303562: 50303562
35 ALG12 NM_024105.3(ALG12): c.930_931delAC (p.Arg311Leufs) deletion Pathogenic GRCh37 Chromosome 22, 50301429: 50301431
36 ALG12 NM_024105.3(ALG12): c.930_931delAC (p.Arg311Leufs) deletion Pathogenic GRCh38 Chromosome 22, 49907782: 49907783
37 ALG12 NM_024105.3(ALG12): c.1446G> C (p.Glu482Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 50297507: 50297507
38 ALG12 NM_024105.3(ALG12): c.1446G> C (p.Glu482Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 49903859: 49903859
39 ALG12 NM_024105.3(ALG12): c.652A> G (p.Ile218Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 50303554: 50303554
40 ALG12 NM_024105.3(ALG12): c.652A> G (p.Ile218Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 49909906: 49909906
41 ALG12 NM_024105.3(ALG12): c.469+4C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 50304078: 50304078
42 ALG12 NM_024105.3(ALG12): c.469+4C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 49910430: 49910430

Expression for Alg12-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg12-Congenital Disorder of Glycosylation.

Pathways for Alg12-Congenital Disorder of Glycosylation

GO Terms for Alg12-Congenital Disorder of Glycosylation

Sources for Alg12-Congenital Disorder of Glycosylation

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