MCID: CNG205
MIFTS: 30

Congenital Disorder of Glycosylation, Type Ij

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 13
Congenital Disorder of Glycosylation Type 1j 59 29 6 73
Cdg1j 57 59 75
Congenital Disorder of Glycosylation Type Ij 59 75
Cdg Ij 57 75
Cdg-Ij 59 75
Cdgij 57 75
Dolichyl-Phosphate N-Acetylgalactosamine Phosphotransferase Deficiency 59
Carbohydrate Deficient Glycoprotein Syndrome Type Ij 59
Glycosylation, Congenital Disorder of, Type Ij 40
Congenital Disorder of Glycosylation 1j 75
Cdg Syndrome Type Ij 59
Cdg Ij; Cdgij 57
Dpagt1-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
dpagt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth


HPO:

32
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 : 75 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 has symptoms including apnea, seizures and tremor. 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 microcephaly and micrognathia

OMIM : 57 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 in 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 Iq
Congenital Disorder of Glycosylation, Type Io 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 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ij

Symptoms via clinical synopsis from OMIM:

57
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)

GenitourinaryInternal GenitaliaMale:
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
8 cryptorchidism 32 occasional (7.5%) HP:0000028
9 cataract 32 HP:0000518
10 exotropia 32 HP:0000577
11 nystagmus 32 HP:0000639
12 aggressive behavior 32 occasional (7.5%) HP:0000718
13 jaundice 32 occasional (7.5%) HP:0000952
14 single transverse palmar crease 32 HP:0000954
15 generalized hypotonia 32 HP:0001290
16 tremor 32 occasional (7.5%) HP:0001337
17 hyperreflexia 32 HP:0001347
18 flexion contracture 32 occasional (7.5%) HP:0001371
19 reduced antithrombin iii activity 32 occasional (7.5%) HP:0001976
20 respiratory insufficiency 32 occasional (7.5%) HP:0002093
21 apnea 32 occasional (7.5%) HP:0002104
22 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
23 hypoproteinemia 32 occasional (7.5%) HP:0003075
24 inverted nipples 32 HP:0003186
25 type i transferrin isoform profile 32 HP:0003642
26 skin dimples 32 HP:0010781

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


apnea, seizures, tremor

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:

41
Skin, Liver

Publications for Congenital Disorder of Glycosylation, Type Ij

Articles related to Congenital Disorder of Glycosylation, Type Ij:

# Title Authors Year
1
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. ( 22304930 )
2012
2
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:

75
# 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 all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Pathogenic rs28934876 GRCh37 Chromosome 11, 118971106: 118971106
2 DPAGT1 NM_001382.3(DPAGT1): c.509A> G (p.Tyr170Cys) single nucleotide variant Pathogenic rs28934876 GRCh38 Chromosome 11, 119100396: 119100396
3 DPAGT1 NM_001382.3(DPAGT1): c.206T> A (p.Ile69Asn) single nucleotide variant Pathogenic rs397514586 GRCh37 Chromosome 11, 118971804: 118971804
4 DPAGT1 NM_001382.3(DPAGT1): c.206T> A (p.Ile69Asn) single nucleotide variant Pathogenic rs397514586 GRCh38 Chromosome 11, 119101094: 119101094
5 DPAGT1 NM_001382.3(DPAGT1): c.161+5G> A single nucleotide variant Pathogenic rs397515322 GRCh37 Chromosome 11, 118972200: 118972200
6 DPAGT1 NM_001382.3(DPAGT1): c.161+5G> A single nucleotide variant Pathogenic rs397515322 GRCh38 Chromosome 11, 119101490: 119101490
7 DPAGT1 NM_001382.3(DPAGT1): c.341C> G (p.Ala114Gly) single nucleotide variant Pathogenic rs397515327 GRCh37 Chromosome 11, 118971495: 118971495
8 DPAGT1 NM_001382.3(DPAGT1): c.341C> G (p.Ala114Gly) single nucleotide variant Pathogenic rs397515327 GRCh38 Chromosome 11, 119100785: 119100785
9 DPAGT1 NM_001382.3(DPAGT1): c.85A> T (p.Ile29Phe) single nucleotide variant Pathogenic rs397515328 GRCh37 Chromosome 11, 118972281: 118972281
10 DPAGT1 NM_001382.3(DPAGT1): c.85A> T (p.Ile29Phe) single nucleotide variant Pathogenic rs397515328 GRCh38 Chromosome 11, 119101571: 119101571
11 DPAGT1 NM_001382.3(DPAGT1): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic rs397515329 GRCh37 Chromosome 11, 118971112: 118971112
12 DPAGT1 NM_001382.3(DPAGT1): c.503T> C (p.Leu168Pro) single nucleotide variant Pathogenic rs397515329 GRCh38 Chromosome 11, 119100402: 119100402
13 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh37 Chromosome 11, 118968185: 118968185
14 DPAGT1; HMBS NM_001382.3(DPAGT1): c.994T> G (p.Phe332Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138544311 GRCh38 Chromosome 11, 119097475: 119097475
15 DPAGT1 NM_001382.3(DPAGT1): c.584C> G (p.Ala195Gly) single nucleotide variant Pathogenic rs863225088 GRCh38 Chromosome 11, 119100321: 119100321
16 DPAGT1 NM_001382.3(DPAGT1): c.584C> G (p.Ala195Gly) single nucleotide variant Pathogenic rs863225088 GRCh37 Chromosome 11, 118971031: 118971031
17 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh37 Chromosome 11, 118968265: 118968265
18 DPAGT1 NM_001382.3(DPAGT1): c.918-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201656540 GRCh38 Chromosome 11, 119097555: 119097555
19 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh37 Chromosome 11, 118972241: 118972241
20 DPAGT1 NM_001382.3(DPAGT1): c.125G> A (p.Cys42Tyr) single nucleotide variant Uncertain significance rs375679649 GRCh38 Chromosome 11, 119101531: 119101531
21 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh38 Chromosome 11, 119098047: 119098047
22 DPAGT1 NM_001382.3(DPAGT1): c.729-4A> C single nucleotide variant Benign/Likely benign rs199873583 GRCh37 Chromosome 11, 118968757: 118968757
23 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh37 Chromosome 11, 118971767: 118971767
24 DPAGT1 NM_001382.3(DPAGT1): c.243C> T (p.Cys81=) single nucleotide variant Likely benign rs138519099 GRCh38 Chromosome 11, 119101057: 119101057
25 DPAGT1 NM_001382.3(DPAGT1): c.918-8C> T single nucleotide variant Likely benign rs531346717 GRCh37 Chromosome 11, 118968269: 118968269
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.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118968006: 118968006
28 DPAGT1 NM_001382.3(DPAGT1): c.1007T> C (p.Val336Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119097296: 119097296
29 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971413: 118971413
30 DPAGT1 NM_001382.3(DPAGT1): c.423C> G (p.Phe141Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100703: 119100703
31 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh38 Chromosome 11, 119100796: 119100796
32 DPAGT1 NM_001382.3(DPAGT1): c.330C> T (p.Phe110=) single nucleotide variant Likely benign rs199994118 GRCh37 Chromosome 11, 118971506: 118971506
33 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 118971388: 118971388
34 DPAGT1 NM_001382.3(DPAGT1): c.448G> A (p.Val150Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 119100678: 119100678
35 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh38 Chromosome 11, 119101489: 119101489
36 DPAGT1 NM_001382.3(DPAGT1): c.161+6C> T single nucleotide variant Uncertain significance rs762402071 GRCh37 Chromosome 11, 118972199: 118972199
37 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh37 Chromosome 11, 118968203: 118968203
38 DPAGT1 NM_001382.3(DPAGT1): c.976C> G (p.Leu326Val) single nucleotide variant Uncertain significance rs755527720 GRCh38 Chromosome 11, 119097493: 119097493

Expression for Congenital Disorder of Glycosylation, Type Ij

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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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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
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