CDG2D
MCID: CNG187
MIFTS: 38

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, Smell/Taste 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 56 13
Congenital Disorder of Glycosylation Type Iid 12 58 73 15
Cdg2d 56 12 58 73
B4galt1-Cdg 58 29 6
Cdg Iid 56 12 73
Cdgiid 56 12 73
Congenital Disorder of Glycosylation Type 2d 58 43
Cdg-Iid 58 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iid 58
Glycosylation, Congenital Disorder of, Type Iid 39
Congenital Disorder of Glycosylation, Type Iiid 71
Beta-1,4-Galactosyltransferase Deficiency 58
Congenital Disorder of Glycosylation 2d 73
Cdg Syndrome Type Iid 58
Cdg Iid; Cdgiid 56

Characteristics:

Orphanet epidemiological data:

58
b4galt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
congenital disorder of glycosylation, type iid:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070256
OMIM 56 607091
OMIM Phenotypic Series 56 PS212066
SNOMED-CT 67 725587007
ICD10 via Orphanet 33 E77.8
UMLS via Orphanet 72 C2931009
Orphanet 58 ORPHA79332
UMLS 71 C1846816 C2931009

Summaries for Congenital Disorder of Glycosylation, Type Iid

OMIM : 56 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 disorders of n-linked glycosylation and multiple pathway and immunodeficiency 47. 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 of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include liver, and related phenotypes are muscular hypotonia and macrocephaly

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 : 73 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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 congenital disorders of n-linked glycosylation and multiple pathway 30.1 ALG2 ALG12
2 immunodeficiency 47 28.1 SLC35C1 SLC35A1 PMM2 MPI MOGS COG7
3 congenital disorder of glycosylation, type in 26.5 SLC35C1 SLC35A1 PMM2 MPI MOGS COG7
4 iga glomerulonephritis 10.3
5 dandy-walker syndrome 10.3
6 hypotonia 10.3
7 hydrocephalus 10.2
8 myopathy 10.2
9 congenital disorder of deglycosylation 10.0 SLC35C1 PMM2
10 congenital disorder of glycosylation, type iim 9.9 SLC35A1 B4GALT1 ALG2
11 schneckenbecken dysplasia 9.8 SLC35C1 SLC35A1
12 galactosemia i 9.8 PMM2 COG7 ALG2
13 protein-losing enteropathy 9.8 PMM2 MPI
14 cone-rod dystrophy, x-linked, 2 9.8 COG7 COG1
15 congenital disorder of glycosylation, type iil 9.7 COG7 COG1
16 cone-rod dystrophy, x-linked, 1 9.7 COG7 COG1
17 walker-warburg syndrome 9.7 SLC35A1 PMM2 MPI ALG2
18 congenital disorder of glycosylation, type iik 9.5 SLC35C1 PMM2 COG1 ALG2
19 congenital disorder of glycosylation, type iii 9.4 PMM2 COG7 COG1 ALG2
20 congenital disorder of glycosylation, type iih 9.4 PMM2 COG7 COG1 ALG2
21 fructose intolerance, hereditary 9.4 SLC35C1 MPI MOGS B4GALT1 ALG2
22 congenital disorder of glycosylation, type ie 9.4 PMM2 MPI ALG2 ALG12
23 congenital disorder of glycosylation, type iig 9.4 COG1 ALG2 ALG12
24 congenital disorder of glycosylation, type iij 9.1 COG7 COG1 ALG2 ALG12
25 congenital disorder of glycosylation, type iif 9.1 SLC35C1 SLC35A1 PMM2 COG1 B4GALT1 ALG2
26 congenital disorder of glycosylation, type iia 8.9 SLC35C1 SLC35A1 PMM2 MPI MOGS B4GALT1
27 congenital disorder of glycosylation, type iib 8.3 SLC35C1 SLC35A1 PMM2 MPI MOGS B4GALT1

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:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
5 dandy-walker malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001305
6 global developmental delay 31 HP:0001263
7 elevated serum creatine kinase 31 HP:0003236
8 abnormality of coagulation 31 HP:0001928
9 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
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:
hypotonia
developmental delay
macrocephaly (due to dandy-walker malformation)

Hematology:
coagulation abnormalities

Clinical features from OMIM:

607091

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iid

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

Cochrane evidence based reviews: congenital disorder of glycosylation type 2d

Genetic Tests for Congenital Disorder of Glycosylation, Type Iid

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

# Genetic test Affiliating Genes
1 B4galt1-Cdg 29 B4GALT1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iid

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

40
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. 6 56 61
11901181 2002
2
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
3
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. 56
11930273 2002

Variations for Congenital Disorder of Glycosylation, Type Iid

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B4GALT1 NM_001497.3(B4GALT1):c.1031dup (p.Arg345fs)duplication Pathogenic 16229 rs1564035076 9:33113804-33113805 9:33113806-33113807
2 B4GALT1 NM_001497.3(B4GALT1):c.5G>C (p.Arg2Thr)SNV Uncertain significance 802478 9:33167163-33167163 9:33167165-33167165

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
13.16 SLC35C1 SLC35A1 PMM2 MPI MOGS COG7
2
Show member pathways
12.29 SLC35C1 SLC35A1 PMM2 MPI MOGS COG7
3
Show member pathways
11.92 SLC35C1 SLC35A1 PMM2 MPI ALG2 ALG12
4
Show member pathways
11.56 MOGS B4GALT1 ALG2 ALG12
5
Show member pathways
11.17 B4GALT4 B4GALT1
6 11.12 COG7 COG1
7
Show member pathways
11.08 PMM2 MPI
8 11.02 COG7 COG1
9 10.75 B4GALT4 B4GALT1

GO Terms for Congenital Disorder of Glycosylation, Type Iid

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.02 SLC35C1 SLC35A1 MOGS COG7 COG1 B4GALT4
2 Golgi apparatus GO:0005794 9.5 SLC35C1 SLC35A1 COG7 COG1 B4GALT4 B4GALT1
3 integral component of Golgi membrane GO:0030173 9.26 SLC35A1 B4GALNT2
4 Golgi membrane GO:0000139 9.17 SLC35C1 SLC35A1 COG7 COG1 B4GALT4 B4GALT1
5 Golgi transport complex GO:0017119 9.16 COG7 COG1

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.56 SLC35A1 MPI B4GALT4 B4GALT1
2 carbohydrate transport GO:0008643 9.46 SLC35C1 SLC35A1
3 keratan sulfate biosynthetic process GO:0018146 9.43 B4GALT4 B4GALT1
4 mannosylation GO:0097502 9.4 ALG2 ALG12
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.37 ALG2 ALG12
6 lipid glycosylation GO:0030259 9.32 SLC35C1 B4GALNT2
7 protein N-linked glycosylation GO:0006487 9.26 PMM2 MOGS B4GALT1 ALG12
8 protein glycosylation GO:0006486 9.23 PMM2 MPI COG7 B4GALT4 B4GALT1 B4GALNT2
9 GDP-mannose biosynthetic process GO:0009298 9.16 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 antiporter activity GO:0015297 9.26 SLC35C1 SLC35A1
2 galactosyltransferase activity GO:0008378 9.16 B4GALT4 B4GALT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.02 B4GALT4 B4GALT1 B4GALNT2 ALG2 ALG12
4 N-acetyllactosamine synthase activity GO:0003945 8.96 B4GALT4 B4GALT1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....