CDG1J
MCID: CNG205
MIFTS: 35

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, Smell/Taste 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 56 13
Congenital Disorder of Glycosylation Type 1j 58 29 6 71
Cdg1j 56 58 73
Congenital Disorder of Glycosylation Type Ij 58 73
Congenital Disorder of Glycosylation 1j 12 73
Cdg Ij 56 73
Cdg-Ij 58 73
Cdgij 56 73
Dolichyl-Phosphate N-Acetylgalactosamine Phosphotransferase Deficiency 58
Carbohydrate Deficient Glycoprotein Syndrome Type Ij 58
Glycosylation, Congenital Disorder of, Type Ij 39
Congenital Disorder of Glycosylation Ij 12
Cdg Syndrome Type Ij 58
Cdg Ij; Cdgij 56
Dpagt1-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
dpagt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth


HPO:

31
congenital disorder of glycosylation, type ij:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ij

UniProtKB/Swiss-Prot : 73 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 alternating exotropia, 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 and liver, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has material basis in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.

OMIM : 56 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 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 Ij via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.4
2 alternating exotropia 10.4
3 exotropia 10.4
4 microcephaly 10.4
5 congenital disorders of n-linked glycosylation and multiple pathway 10.4
6 hypotonia 10.4
7 cataract 10.2
8 alacrima, achalasia, and mental retardation syndrome 10.1
9 congenital myasthenic syndrome 10.1
10 hypertrichosis 10.1
11 polyhydramnios 10.1
12 encephalopathy 10.1

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



Diseases related to Congenital Disorder of Glycosylation, Type Ij

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ij

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
8 tremor 31 occasional (7.5%) HP:0001337
9 respiratory insufficiency 31 occasional (7.5%) HP:0002093
10 cryptorchidism 31 occasional (7.5%) HP:0000028
11 flexion contracture 31 occasional (7.5%) HP:0001371
12 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
13 jaundice 31 occasional (7.5%) HP:0000952
14 apnea 31 occasional (7.5%) HP:0002104
15 aggressive behavior 31 occasional (7.5%) HP:0000718
16 hypoproteinemia 31 occasional (7.5%) HP:0003075
17 reduced antithrombin iii activity 31 occasional (7.5%) HP:0001976
18 nystagmus 31 HP:0000639
19 hyperreflexia 31 HP:0001347
20 cataract 31 HP:0000518
21 hypertonia 31 HP:0001276
22 generalized hypotonia 31 HP:0001290
23 inverted nipples 31 HP:0003186
24 single transverse palmar crease 31 HP:0000954
25 exotropia 31 HP:0000577
26 type i transferrin isoform profile 31 HP:0003642
27 skin dimple 31 HP:0010781

Symptoms via clinical synopsis from OMIM:

56
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 29 DPAGT1

Anatomical Context for Congenital Disorder of Glycosylation, Type Ij

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

40
Skin, Liver

Publications for Congenital Disorder of Glycosylation, Type Ij

Articles related to Congenital Disorder of Glycosylation, Type Ij:

# Title Authors PMID Year
1
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 6 61 56
22304930 2012
2
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. 6 56 61
12872255 2003
3
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. 6 56
23249953 2013
4
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 56 6
22492991 2012
5
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
6
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1. 61
23591138 2013

Variations for Congenital Disorder of Glycosylation, Type Ij

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

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPAGT1 NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)SNV Pathogenic 39773 rs397514586 11:118971804-118971804 11:119101094-119101094
2 DPAGT1 NM_001382.4(DPAGT1):c.161+5G>ASNV Pathogenic 39774 rs397515322 11:118972200-118972200 11:119101490-119101490
3 DPAGT1 NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)SNV Pathogenic 65469 rs397515327 11:118971495-118971495 11:119100785-119100785
4 DPAGT1 NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)SNV Pathogenic 65470 rs397515328 11:118972281-118972281 11:119101571-119101571
5 DPAGT1 NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)SNV Pathogenic 65471 rs397515329 11:118971112-118971112 11:119100402-119100402
6 DPAGT1 NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)SNV Pathogenic 218096 rs863225088 11:118971031-118971031 11:119100321-119100321
7 DPAGT1 NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)duplication Pathogenic 521720 rs1185483085 11:118971441-118971456 11:119100731-119100746
8 DPAGT1 NM_001382.4(DPAGT1):c.26dup (p.Met9fs)duplication Pathogenic 567578 rs768656482 11:118972340-118972340 11:119101630-119101630
9 DPAGT1 NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)SNV Pathogenic 640003 11:118971438-118971438 11:119100728-119100728
10 DPAGT1 , HMBS NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)SNV Conflicting interpretations of pathogenicity 167007 rs138544311 11:118968185-118968185 11:119097475-119097475
11 DPAGT1 NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)SNV Conflicting interpretations of pathogenicity 381709 rs1057521151 11:118972365-118972365 11:119101655-119101655
12 DPAGT1 NM_001382.4(DPAGT1):c.918-4G>ASNV Conflicting interpretations of pathogenicity 302747 rs201656540 11:118968265-118968265 11:119097555-119097555
13 DPAGT1 NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)SNV Uncertain significance 302751 rs375679649 11:118972241-118972241 11:119101531-119101531
14 DPAGT1 NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val)SNV Uncertain significance 93730 rs398123609 11:118971484-118971484 11:119100774-119100774
15 DPAGT1 NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)SNV Uncertain significance 12296 rs28934876 11:118971106-118971106 11:119100396-119100396
16 DPAGT1 NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)SNV Uncertain significance 473241 rs1555207196 11:118968006-118968006 11:119097296-119097296
17 DPAGT1 NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)SNV Uncertain significance 473242 rs1403883479 11:118971413-118971413 11:119100703-119100703
18 DPAGT1 NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)SNV Uncertain significance 654609 11:118971477-118971477 11:119100767-119100767
19 DPAGT1 NM_001382.4(DPAGT1):c.1005+6A>TSNV Uncertain significance 647040 11:118968168-118968168 11:119097458-119097458
20 DPAGT1 NM_001382.4(DPAGT1):c.918-10C>ASNV Uncertain significance 664042 11:118968271-118968271 11:119097561-119097561
21 DPAGT1 NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)SNV Uncertain significance 540461 rs1555207796 11:118971388-118971388 11:119100678-119100678
22 DPAGT1 NM_001382.4(DPAGT1):c.161+6C>TSNV Uncertain significance 540463 rs762402071 11:118972199-118972199 11:119101489-119101489
23 DPAGT1 NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)SNV Uncertain significance 540460 rs755527720 11:118968203-118968203 11:119097493-119097493
24 DPAGT1 NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)SNV Uncertain significance 547938 rs112355069 11:118971760-118971760 11:119101050-119101050
25 DPAGT1 NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)SNV Uncertain significance 572825 11:118971475-118971475 11:119100765-119100765
26 DPAGT1 NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)SNV Uncertain significance 582259 11:118968692-118968692 11:119097982-119097982
27 DPAGT1 NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)SNV Uncertain significance 565496 rs1555207826 11:118971476-118971476 11:119100766-119100766
28 DPAGT1 NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)SNV Uncertain significance 634577 rs1565766177 11:118971813-118971813 11:119101103-119101103
29 DPAGT1 NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)SNV Uncertain significance 663782 11:118967731-118967731 11:119097021-119097021
30 DPAGT1 NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)SNV Uncertain significance 652219 11:118967734-118967734 11:119097024-119097024
31 DPAGT1 NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)SNV Uncertain significance 651456 11:118968614-118968614 11:119097904-119097904
32 DPAGT1 NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)SNV Uncertain significance 656894 11:118969170-118969170 11:119098460-119098460
33 DPAGT1 NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)SNV Uncertain significance 643168 11:118971366-118971366 11:119100656-119100656
34 DPAGT1 NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)SNV Likely benign 540462 rs199994118 11:118971506-118971506 11:119100796-119100796
35 DPAGT1 NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)SNV Likely benign 386721 rs138519099 11:118971767-118971767 11:119101057-119101057
36 DPAGT1 NM_001382.4(DPAGT1):c.918-8C>TSNV Likely benign 473243 rs531346717 11:118968269-118968269 11:119097559-119097559
37 DPAGT1 NM_001382.4(DPAGT1):c.729-4A>CSNV Benign/Likely benign 386275 rs199873583 11:118968757-118968757 11:119098047-119098047

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

73
# Symbol AA change Variation ID SNP ID
1 DPAGT1 p.Tyr170Cys VAR_017243 rs28934876

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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