MCID: ALG019
MIFTS: 6

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 25
Congenital Disorder of Glycosylation Type 1g 25 69
Congenital Disorder of Glycosylation Type Ig 25
Cdg Ig 25
Cdg1g 25

Summaries for Alg12-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 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 skeletal dysplasias. 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:

id Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ig 11.2
2 skeletal dysplasias 9.8
3 cardiomyopathy 9.8
4 skeletal dysplasia 9.8

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

Anatomical Context for Alg12-Congenital Disorder of Glycosylation

Publications for Alg12-Congenital Disorder of Glycosylation

Variations for Alg12-Congenital Disorder of Glycosylation

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

6
id 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.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs121907931 GRCh37 Chromosome 22, 50307128: 50307128
3 ALG12 NM_024105.3(ALG12): c.437G> A (p.Arg146Gln) single nucleotide variant Pathogenic rs121907932 GRCh37 Chromosome 22, 50304114: 50304114
4 ALG12 NM_024105.3(ALG12): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs121907933 GRCh37 Chromosome 22, 50304250: 50304250
5 ALG12 NM_024105.3(ALG12): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121907934 GRCh37 Chromosome 22, 50303733: 50303733
6 ALG12 NM_024105.3(ALG12): c.1242C> G (p.Tyr414Ter) single nucleotide variant Pathogenic rs121907935 GRCh37 Chromosome 22, 50297711: 50297711
7 ALG12 NM_024105.3(ALG12): c.1001delA (p.Asn334Thrfs) deletion Pathogenic rs759244819 GRCh37 Chromosome 22, 50298146: 50298146
8 ALG12 NM_024105.3(ALG12): c.117delG (p.Gln40Argfs) deletion Pathogenic rs761221480 GRCh38 Chromosome 22, 49913649: 49913649

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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