CDG1J
MCID: CNG205
MIFTS: 32

Congenital Disorder of Glycosylation, Type Ij (CDG1J)

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 Ij

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

Name: Congenital Disorder of Glycosylation, Type Ij 58 13
Congenital Disorder of Glycosylation Type 1j 60 30 6 74
Cdg1j 58 60 76
Congenital Disorder of Glycosylation Type Ij 60 76
Cdg Ij 58 76
Cdg-Ij 60 76
Cdgij 58 76
Dolichyl-Phosphate N-Acetylgalactosamine Phosphotransferase Deficiency 60
Carbohydrate Deficient Glycoprotein Syndrome Type Ij 60
Glycosylation, Congenital Disorder of, Type Ij 41
Congenital Disorder of Glycosylation 1j 76
Cdg Syndrome Type Ij 60
Cdg Ij; Cdgij 58
Dpagt1-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
dpagt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth


HPO:

33
congenital disorder of glycosylation, type ij:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ij

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1J: 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ij, also known as congenital disorder of glycosylation type 1j, is related to congenital disorder of glycosylation, type in and encephalopathy, and has symptoms including seizures, tremor and apnea. An important gene associated with Congenital Disorder of Glycosylation, Type Ij is DPAGT1 (Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1). Affiliated tissues include skin, liver and bone, and related phenotypes are intellectual disability and seizures

OMIM : 58 Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway. For a general discussion of CDGs, see CDG1A (212065). (608093)

Related Diseases for Congenital Disorder of Glycosylation, Type Ij

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 Ij via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.4
2 encephalopathy 10.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ij

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

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
8 tremor 33 occasional (7.5%) HP:0001337
9 respiratory insufficiency 33 occasional (7.5%) HP:0002093
10 flexion contracture 33 occasional (7.5%) HP:0001371
11 cryptorchidism 33 occasional (7.5%) HP:0000028
12 elevated hepatic transaminase 33 occasional (7.5%) HP:0002910
13 jaundice 33 occasional (7.5%) HP:0000952
14 apnea 33 occasional (7.5%) HP:0002104
15 aggressive behavior 33 occasional (7.5%) HP:0000718
16 hypoproteinemia 33 occasional (7.5%) HP:0003075
17 reduced antithrombin iii activity 33 occasional (7.5%) HP:0001976
18 nystagmus 33 HP:0000639
19 hyperreflexia 33 HP:0001347
20 cataract 33 HP:0000518
21 hypertonia 33 HP:0001276
22 inverted nipples 33 HP:0003186
23 skin dimples 33 HP:0010781
24 generalized hypotonia 33 HP:0001290
25 single transverse palmar crease 33 HP:0000954
26 exotropia 33 HP:0000577
27 type i transferrin isoform profile 33 HP:0003642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
cataracts

Respiratory:
respiratory insufficiency
apnea
asphyxia

Chest Breasts:
inverted nipples

Skeletal Hands:
fifth finger clinodactyly
single flexion crease
fetal fat pads

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern)
abnormal liver enzymes (in 1 patient)
hypoproteinemia (in 1 patient)

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in 1 family)

Neurologic Central Nervous System:
seizures
tremor
hyperreflexia
developmental delay
hypotonia
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Skeletal:
joint contractures

Head And Neck Face:
dysmorphic features

Skin Nails Hair Skin:
skin dimples on upper thighs (1 patient)
jaundice (1 patient)

Hematology:
chronic anemia (in 1 patient)
prolonged appt (in 1 patient)
antithrombin iii deficiency (in 1 patient)

Clinical features from OMIM:

608093

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ij:


seizures, tremor, apnea

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ij

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ij

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1j 30 DPAGT1

Anatomical Context for Congenital Disorder of Glycosylation, Type Ij

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

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Ij

Articles related to Congenital Disorder of Glycosylation, Type Ij:

# Title Authors Year
1
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. ( 23249953 )
2013
2
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. ( 22492991 )
2012
3
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. ( 22304930 )
2012
4
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. ( 12872255 )
2003

Variations for Congenital Disorder of Glycosylation, Type Ij

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

76
# Symbol AA change Variation ID SNP ID
1 DPAGT1 p.Tyr170Cys VAR_017243 rs28934876

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

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs28934876 GRCh37 Chromosome 11, 118971106: 118971106
2 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Uncertain significance rs28934876 GRCh38 Chromosome 11, 119100396: 119100396
3 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh37 Chromosome 11, 118968185: 118968185
4 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh37 Chromosome 11, 118968265: 118968265
5 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh38 Chromosome 11, 119097555: 119097555
6 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh38 Chromosome 11, 119101531: 119101531
7 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh37 Chromosome 11, 118972241: 118972241
8 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance rs1555207196 GRCh38 Chromosome 11, 119097296: 119097296
9 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance rs1403883479 GRCh37 Chromosome 11, 118971413: 118971413
10 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance rs1403883479 GRCh38 Chromosome 11, 119100703: 119100703
11 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance rs1555207796 GRCh37 Chromosome 11, 118971388: 118971388
12 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance rs1555207796 GRCh38 Chromosome 11, 119100678: 119100678
13 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh38 Chromosome 11, 119101489: 119101489
14 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh37 Chromosome 11, 118972199: 118972199
15 DPAGT1 NM_001382.3(DPAGT1): c.250A> C (p.Lys84Gln) single nucleotide variant Uncertain significance rs112355069 GRCh38 Chromosome 11, 119101050: 119101050
16 DPAGT1 NM_001382.3(DPAGT1): c.250A> C (p.Lys84Gln) single nucleotide variant Uncertain significance rs112355069 GRCh37 Chromosome 11, 118971760: 118971760
17 DPAGT1 NM_001382.3(DPAGT1): c.361C> T (p.Arg121Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971475: 118971475
18 DPAGT1 NM_001382.3(DPAGT1): c.361C> T (p.Arg121Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100765: 119100765
19 DPAGT1 NM_001382.3(DPAGT1): c.790G> A (p.Val264Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119097982: 119097982
20 DPAGT1 NM_001382.3(DPAGT1): c.790G> A (p.Val264Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118968692: 118968692
21 DPAGT1 NM_001382.3(DPAGT1): c.360G> C (p.Leu120=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100766: 119100766
22 DPAGT1 NM_001382.3(DPAGT1): c.360G> C (p.Leu120=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971476: 118971476
23 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh37 Chromosome 11, 118971506: 118971506
24 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh38 Chromosome 11, 119100796: 119100796
25 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance rs1555207196 GRCh37 Chromosome 11, 118968006: 118968006
26 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh38 Chromosome 11, 119097559: 119097559
27 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh37 Chromosome 11, 118968269: 118968269
28 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh38 Chromosome 11, 119101057: 119101057
29 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh37 Chromosome 11, 118971767: 118971767
30 DPAGT1 NM_001382.3(DPAGT1): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521151 GRCh38 Chromosome 11, 119101655: 119101655
31 DPAGT1 NM_001382.3(DPAGT1): c.1A> C (p.Met1Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1057521151 GRCh37 Chromosome 11, 118972365: 118972365
32 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh38 Chromosome 11, 119098047: 119098047
33 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh37 Chromosome 11, 118968757: 118968757
34 DPAGT1 NM_001382.3(DPAGT1): c.584C> G (p.Ala195Gly) single nucleotide variant Pathogenic rs863225088 GRCh37 Chromosome 11, 118971031: 118971031
35 DPAGT1 NM_001382.3(DPAGT1): c.584C> G (p.Ala195Gly) single nucleotide variant Pathogenic rs863225088 GRCh38 Chromosome 11, 119100321: 119100321
36 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh38 Chromosome 11, 119097475: 119097475
37 DPAGT1 NM_001382.3(DPAGT1): c.352C> G (p.Leu118Val) single nucleotide variant Uncertain significance rs398123609 GRCh38 Chromosome 11, 119100774: 119100774
38 DPAGT1 NM_001382.3(DPAGT1): c.352C> G (p.Leu118Val) single nucleotide variant Uncertain significance rs398123609 GRCh37 Chromosome 11, 118971484: 118971484
39 DPAGT1 NM_001382.3(DPAGT1): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic rs397515329 GRCh38 Chromosome 11, 119100402: 119100402
40 DPAGT1 NM_001382.3(DPAGT1): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic rs397515329 GRCh37 Chromosome 11, 118971112: 118971112
41 DPAGT1 NM_001382.3(DPAGT1): c.85A> T (p.Ile29Phe) single nucleotide variant Pathogenic rs397515328 GRCh38 Chromosome 11, 119101571: 119101571
42 DPAGT1 NM_001382.3(DPAGT1): c.85A> T (p.Ile29Phe) single nucleotide variant Pathogenic rs397515328 GRCh37 Chromosome 11, 118972281: 118972281
43 DPAGT1 NM_001382.3(DPAGT1): c.341C> G (p.Ala114Gly) single nucleotide variant Pathogenic rs397515327 GRCh38 Chromosome 11, 119100785: 119100785
44 DPAGT1 NM_001382.3(DPAGT1): c.341C> G (p.Ala114Gly) single nucleotide variant Pathogenic rs397515327 GRCh37 Chromosome 11, 118971495: 118971495
45 DPAGT1 NM_001382.3(DPAGT1): c.161+5G> A single nucleotide variant Pathogenic rs397515322 GRCh38 Chromosome 11, 119101490: 119101490
46 DPAGT1 NM_001382.3(DPAGT1): c.161+5G> A single nucleotide variant Pathogenic rs397515322 GRCh37 Chromosome 11, 118972200: 118972200
47 DPAGT1 NM_001382.3(DPAGT1): c.206T> A (p.Ile69Asn) single nucleotide variant Pathogenic rs397514586 GRCh38 Chromosome 11, 119101094: 119101094
48 DPAGT1 NM_001382.3(DPAGT1): c.206T> A (p.Ile69Asn) single nucleotide variant Pathogenic rs397514586 GRCh37 Chromosome 11, 118971804: 118971804
49 DPAGT1 NM_001382.3(DPAGT1): c.26dup (p.Met9Ilefs) duplication Pathogenic GRCh38 Chromosome 11, 119101630: 119101630
50 DPAGT1 NM_001382.3(DPAGT1): c.26dup (p.Met9Ilefs) duplication Pathogenic GRCh37 Chromosome 11, 118972340: 118972340

Expression for Congenital Disorder of Glycosylation, Type Ij

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

Pathways for Congenital Disorder of Glycosylation, Type Ij

GO Terms for Congenital Disorder of Glycosylation, Type Ij

Sources for Congenital Disorder of Glycosylation, Type Ij

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