MCID: CNG194
MIFTS: 27

Congenital Disorder of Glycosylation, Type Ig

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Gastrointestinal diseases, Endocrine diseases, Ear diseases, Fetal diseases, Bone diseases, Nephrological diseases, Cardiovascular diseases, Skin diseases, Muscle diseases, Blood diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ig

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Ig:

Name: Congenital Disorder of Glycosylation, Type Ig 54 13
Congenital Disorder of Glycosylation Type 1g 56 29 69
Congenital Disorder of Glycosylation Type Ig 56 71
Cdg-Ig 56 71
Cdg1g 56 71
Carbohydrate Deficient Glycoprotein Syndrome Type Ig 56
Congenital Disorder of Glycosylation 1g 71
Mannosyltransferase 8 Deficiency 56
Cdg Syndrome Type Ig 56
Alg12-Cdg 56
Cdg Ig 71
Cdgig 71

Characteristics:

Orphanet epidemiological data:

56
alg12-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 607143
Orphanet 56 ORPHA79324
UMLS via Orphanet 70 C2931001
ICD10 via Orphanet 34 E77.8
MeSH 42 D018981

Summaries for Congenital Disorder of Glycosylation, Type Ig

OMIM : 54
Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065) and CDG1B (602579). (607143)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ig, also known as congenital disorder of glycosylation type 1g, is related to alg12-congenital disorder of glycosylation, and has symptoms including cognitive impairment, muscular hypotonia and abnormality of immune system physiology. An important gene associated with Congenital Disorder of Glycosylation, Type Ig is ALG12 (ALG12, Alpha-1,6-Mannosyltransferase).

UniProtKB/Swiss-Prot : 71 Congenital disorder of glycosylation 1G: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Related Diseases for Congenital Disorder of Glycosylation, Type Ig

Diseases in the Congenital Disorder of Glycosylation, Type in family:

Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Iib
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type 1aa
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Ia
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Iim
Congenital Disorder of Glycosylation, Type Iy Congenital Disorder of Glycosylation Type I/iix

Diseases related to Congenital Disorder of Glycosylation, Type Ig via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 alg12-congenital disorder of glycosylation 11.7

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ig

Clinical features from OMIM:

607143

Human phenotypes related to Congenital Disorder of Glycosylation, Type Ig:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
2 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 abnormality of immune system physiology 56 32 frequent (33%) Frequent (79-30%) HP:0010978
4 abnormality of the genital system 56 32 frequent (33%) Frequent (79-30%) HP:0000078
5 failure to thrive 32 HP:0001508
6 short philtrum 32 HP:0000322
7 feeding difficulties 32 HP:0011968
8 generalized hypotonia 32 HP:0001290
9 hypocalcemia 32 HP:0002901
10 progressive microcephaly 32 HP:0000253
11 prolonged partial thromboplastin time 32 HP:0003645
12 abnormality of the pinna 32 HP:0000377
13 respiratory tract infection 32 HP:0011947

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ig

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ig

Genetic Tests for Congenital Disorder of Glycosylation, Type Ig

Genetic tests related to Congenital Disorder of Glycosylation, Type Ig:

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1g 29

Anatomical Context for Congenital Disorder of Glycosylation, Type Ig

Publications for Congenital Disorder of Glycosylation, Type Ig

Articles related to Congenital Disorder of Glycosylation, Type Ig:

id Title Authors Year
1
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. ( 11983712 )
2002
2
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. ( 12093361 )
2002
3
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. ( 12217961 )
2002

Variations for Congenital Disorder of Glycosylation, Type Ig

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Ig:

71
id Symbol AA change Variation ID SNP ID
1 ALG12 p.Thr67Met VAR_017904 rs121907931
2 ALG12 p.Phe142Val VAR_017905 rs28942090
3 ALG12 p.Arg146Gln VAR_017906 rs121907932
4 ALG12 p.Leu158Pro VAR_017907 rs121907934
5 ALG12 p.Gly101Arg VAR_038428 rs121907933

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Ig:

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 Congenital Disorder of Glycosylation, Type Ig

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Ig.

Pathways for Congenital Disorder of Glycosylation, Type Ig

GO Terms for Congenital Disorder of Glycosylation, Type Ig

Sources for Congenital Disorder of Glycosylation, Type Ig

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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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