CDG2D
MCID: CNG187
MIFTS: 36

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 57 13
Congenital Disorder of Glycosylation Type Iid 12 59 74 15
Cdg2d 57 12 59 74
Congenital Disorder of Glycosylation Type 2d 59 29 6
Cdg Iid 57 12 74
Cdg-Iid 59 74
Cdgiid 57 74
Carbohydrate Deficient Glycoprotein Syndrome Type Iid 59
Glycosylation, Congenital Disorder of, Type Iid 40
Congenital Disorder of Glycosylation, Type Iiid 72
Beta-1,4-Galactosyltransferase Deficiency 59
Congenital Disorder of Glycosylation 2d 74
Cdg Syndrome Type Iid 59
Cdg Iid; Cdgiid 57
B4galt1-Cdg 59
Cdgiid\n 12

Characteristics:

Orphanet epidemiological data:

59
b4galt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
congenital disorder of glycosylation, type iid:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070256
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 73 C2931009
Orphanet 59 ORPHA79332
UMLS 72 C1846816 C2931009

Summaries for Congenital Disorder of Glycosylation, Type Iid

OMIM : 57 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, 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 : 74 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 Disorder of Multiple Glycosylation 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 Ii
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 17)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 31.8 PMM2 ALG2
2 congenital disorder of glycosylation, type in 29.2 PMM2 MPI ALG2
3 congenital disorder of glycosylation, type iin 11.3
4 iga glomerulonephritis 10.3
5 congenital disorders of n-linked glycosylation and multiple pathway 10.3
6 hypotonia 10.3
7 hydrocephalus 10.2
8 myopathy 10.2
9 congenital hydrocephalus 10.2
10 congenital disorder of glycosylation, type iii 9.7 PMM2 ALG2
11 fructose intolerance, hereditary 9.6 PMM2 ALG2
12 congenital disorder of glycosylation, type iif 9.5 PMM2 B4GALT1 ALG2
13 congenital disorder of glycosylation, type iim 9.5 PMM2 B4GALT1 ALG2
14 congenital disorder of glycosylation, type iia 9.4 PMM2 MPI ALG2
15 epileptic encephalopathy, early infantile, 36 9.4 PMM2 MPI ALG2
16 carbohydrate metabolic disorder 9.3 PMM2 MPI ALG2
17 walker-warburg syndrome 9.3 POMGNT1 ALG2

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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
5 dandy-walker malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001305
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 abnormality of coagulation 32 HP:0001928
9 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 B4GALT1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iid

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

41
Liver

Publications for Congenital Disorder of Glycosylation, Type Iid

Articles related to Congenital Disorder of Glycosylation, Type Iid:

# Title Authors PMID Year
1
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. 38 8 71
11901181 2002
2
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
3
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. 8
11930273 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 GRCh37 Pos GRCh38 Pos
1 B4GALT1 NM_001497.3(B4GALT1): c.1031dup (p.Arg345fs) duplication Pathogenic 9:33113805-33113805 9:33113807-33113807

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 POMGNT1 PMM2 MPI B4GALT1 ALG2
2
Show member pathways
13.14 POMGNT1 PMM2 MPI B4GALT1 ALG2
3
Show member pathways
12.14 PMM2 MPI B4GALT1 ALG2
4
Show member pathways
11.37 B4GALT1 ALG2
5
Show member pathways
11.29 PMM2 MPI
6
Show member pathways
11.09 PMM2 MPI ALG2
7
Show member pathways
10.93 PMM2 MPI
8 10.52 POMGNT1 B4GALT1

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 PMM2 B4GALT1
2 protein glycosylation GO:0006486 9.02 POMGNT1 PMM2 MPI B4GALT1 ALG2
3 GDP-mannose biosynthetic process GO:0009298 8.96 PMM2 MPI

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 PMM2 MPI
2 manganese ion binding GO:0030145 8.96 POMGNT1 B4GALT1
3 transferase activity, transferring glycosyl groups GO:0016757 8.8 POMGNT1 B4GALT1 ALG2

Sources for Congenital Disorder of Glycosylation, Type Iid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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