CDG2D
MCID: CNG187
MIFTS: 41

Congenital Disorder of Glycosylation, Type Iid (CDG2D)

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iid

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

Name: Congenital Disorder of Glycosylation, Type Iid 58 13
Congenital Disorder of Glycosylation Type Iid 12 60 76 15
Cdg2d 58 12 60 76
Congenital Disorder of Glycosylation Type 2d 60 30 6
Cdg Iid 58 12 76
Cdg-Iid 60 76
Cdgiid 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iid 60
Glycosylation, Congenital Disorder of, Type Iid 41
Congenital Disorder of Glycosylation, Type Iiid 74
Beta-1,4-Galactosyltransferase Deficiency 60
Congenital Disorder of Glycosylation 2d 76
Cdg Syndrome Type Iid 60
Cdg Iid; Cdgiid 58
B4galt1-Cdg 60
Cdgiid\n 12

Characteristics:

Orphanet epidemiological data:

60
b4galt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
congenital disorder of glycosylation, type iid:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070256
OMIM 58 607091
MeSH 45 D018981
ICD10 via Orphanet 35 E77.8
UMLS via Orphanet 75 C2931009
Orphanet 60 ORPHA79332

Summaries for Congenital Disorder of Glycosylation, Type Iid

OMIM : 58 Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. 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 (summary by Hansske et al., 2002). For a general discussion of CDGs, see CDG1A (212065). (607091)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iid, also known as congenital disorder of glycosylation type iid, is related to congenital disorder of glycosylation, type ii and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Iid is B4GALT1 (Beta-1,4-Galactosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include liver, skin and bone, and related phenotypes are macrocephaly and hydrocephalus

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1.

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2D: 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 Iid

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

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

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 31.7 ALG2 PMM2
2 congenital disorder of glycosylation, type in 29.6 ALG2 MPI PMM2
3 congenital disorder of glycosylation, type iin 11.2
4 iga glomerulonephritis 10.3
5 myopathy 10.3
6 dandy-walker complex 10.3
7 congenital disorder of glycosylation, type iii 9.8 ALG2 PMM2
8 fructose intolerance, hereditary 9.8 ALG2 PMM2
9 congenital disorder of glycosylation, type iif 9.7 ALG2 B4GALT1 PMM2
10 congenital disorder of glycosylation, type iim 9.7 ALG2 B4GALT1 PMM2
11 congenital disorder of glycosylation, type iia 9.7 ALG2 MPI PMM2
12 epileptic encephalopathy, early infantile, 36 9.6 ALG2 MPI PMM2
13 carbohydrate metabolic disorder 9.6 ALG2 MPI PMM2
14 walker-warburg syndrome 9.5 ALG2 POMGNT1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iid:



Diseases related to Congenital Disorder of Glycosylation, Type Iid

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iid

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

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
5 dandy-walker malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001305
6 global developmental delay 33 HP:0001263
7 abnormality of coagulation 33 HP:0001928
8 generalized hypotonia 33 HP:0001290
9 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
myopathy

Laboratory Abnormalities:
elevated creatine kinase
prolonged activated partial prothrombin time (appt)
abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

Neurologic Central Nervous System:
developmental delay
hypotonia
macrocephaly (due to dandy-walker malformation)

Hematology:
coagulation abnormalities

Clinical features from OMIM:

607091

MGI Mouse Phenotypes related to Congenital Disorder of Glycosylation, Type Iid:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 ALG2 B4GALT1 INSC MPI PMM2 POMGNT1
2 nervous system MP:0003631 9.02 B4GALT1 INSC MPI PMM2 POMGNT1

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iid

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iid

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2d 30 B4GALT1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iid

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iid:

42
Liver, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iid

Articles related to Congenital Disorder of Glycosylation, Type Iid:

# Title Authors Year
1
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. ( 11901181 )
2002

Variations for Congenital Disorder of Glycosylation, Type Iid

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT1 NM_001497.3(B4GALT1): c.1031dup (p.Arg345Lysfs) duplication Pathogenic GRCh38 Chromosome 9, 33113807: 33113807
2 B4GALT1 NM_001497.3(B4GALT1): c.1031dup (p.Arg345Lysfs) duplication Pathogenic GRCh37 Chromosome 9, 33113805: 33113805

Expression for Congenital Disorder of Glycosylation, Type Iid

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

Pathways for Congenital Disorder of Glycosylation, Type Iid

Pathways related to Congenital Disorder of Glycosylation, Type Iid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ALG2 B4GALT1 MPI PMM2 POMGNT1
2
Show member pathways
13.15 ALG2 B4GALT1 MPI PMM2 POMGNT1
3
Show member pathways
12.14 ALG2 B4GALT1 MPI PMM2
4
Show member pathways
11.29 MPI PMM2
5
Show member pathways
11.16 ALG2 B4GALT1
6
Show member pathways
11.09 ALG2 MPI PMM2
7
Show member pathways
10.93 MPI PMM2
8 10.52 B4GALT1 POMGNT1

GO Terms for Congenital Disorder of Glycosylation, Type Iid

Biological processes related to Congenital Disorder of Glycosylation, Type Iid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation GO:0006487 9.16 B4GALT1 PMM2
2 protein glycosylation GO:0006486 9.02 ALG2 B4GALT1 MPI PMM2 POMGNT1
3 GDP-mannose biosynthetic process GO:0009298 8.96 MPI PMM2

Molecular functions related to Congenital Disorder of Glycosylation, Type Iid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.16 MPI PMM2
2 manganese ion binding GO:0030145 8.96 B4GALT1 POMGNT1
3 transferase activity, transferring glycosyl groups GO:0016757 8.8 ALG2 B4GALT1 POMGNT1

Sources for Congenital Disorder of Glycosylation, Type Iid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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