CDG2J
MCID: CNG201
MIFTS: 42

Congenital Disorder of Glycosylation, Type Iij (CDG2J)

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 Iij

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

Name: Congenital Disorder of Glycosylation, Type Iij 58 13 74
Congenital Disorder of Glycosylation Type Iij 12 60 76 15
Congenital Disorder of Glycosylation Type 2j 12 60 30 6
Cdg2j 58 12 60 76
Cdg Iij 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iij 12 60
Cdg Syndrome Type Iij 12 60
Cdg-Iij 60 76
Cdgiij 58 76
Glycosylation, Congenital Disorder of, Type Iij 41
Congenital Disorder of Glycosylation 2j 76
Cdg Iij; Cdgiij 58
Cog4-Cdg 60
Cdgiidj 12

Characteristics:

Orphanet epidemiological data:

60
cog4-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated june 2012)
one patient had onset at birth and a more severe disorder resulting in death at a young age
one patient had onset at age 4 months after normal development


HPO:

33
congenital disorder of glycosylation, type iij:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iij

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2J: 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 Iij, also known as congenital disorder of glycosylation type iij, is related to cone-rod dystrophy, x-linked, 1 and cone-rod dystrophy, x-linked, 2, and has symptoms including ataxia An important gene associated with Congenital Disorder of Glycosylation, Type Iij is COG4 (Component Of Oligomeric Golgi Complex 4), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include liver, skin and bone, and related phenotypes are abnormal protein o-linked glycosylation and nystagmus

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of COG4 on chromosome 16q22.1.

Description from OMIM: 613489

Related Diseases for Congenital Disorder of Glycosylation, Type Iij

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy, x-linked, 1 9.9 COG4 COG5
2 cone-rod dystrophy, x-linked, 2 9.8 COG4 COG5
3 congenital disorder of glycosylation, type iih 9.6 ALG2 COG1
4 congenital disorder of glycosylation, type iim 9.4 ALG2 COG1
5 congenital disorder of glycosylation, type iii 9.4 ALG2 COG1 COG5
6 congenital disorder of glycosylation, type ii 9.2 ALG2 COG1 COG4 COG5
7 congenital disorder of glycosylation, type in 9.1 ALG2 COG1 COG4 COG5

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



Diseases related to Congenital Disorder of Glycosylation, Type Iij

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iij

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

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal protein o-linked glycosylation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012358
2 nystagmus 60 33 occasional (7.5%) Frequent (79-30%) HP:0000639
3 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 60 33 occasional (7.5%) Frequent (79-30%) HP:0000252
7 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
8 feeding difficulties 60 33 occasional (7.5%) Frequent (79-30%) HP:0011968
9 recurrent upper respiratory tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0002788
10 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
11 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
12 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
13 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%) HP:0002910
14 cirrhosis 60 33 occasional (7.5%) Frequent (79-30%) HP:0001394
15 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
16 hypercholesterolemia 60 33 frequent (33%) Frequent (79-30%) HP:0003124
17 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
18 frontotemporal cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006892
19 abnormality of the coagulation cascade 60 33 frequent (33%) Frequent (79-30%) HP:0003256
20 generalized neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0008935
21 hepatosplenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001433
22 elevated alkaline phosphatase 60 33 frequent (33%) Frequent (79-30%) HP:0003155
23 muscular hypotonia of the trunk 60 33 frequent (33%) Frequent (79-30%) HP:0008936
24 thick hair 60 33 occasional (7.5%) Frequent (79-30%) HP:0100874
25 intermittent diarrhea 60 33 frequent (33%) Frequent (79-30%) HP:0002254
26 limb hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0002509
27 complex febrile seizures 60 33 frequent (33%) Frequent (79-30%) HP:0011172
28 type ii transferrin isoform profile 60 33 frequent (33%) Frequent (79-30%) HP:0012301
29 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
30 recurrent infection of the gastrointestinal tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0004798
31 fatal liver failure in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006583
32 neonatal sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0040187
33 seizures 33 occasional (7.5%) HP:0001250
34 failure to thrive 33 occasional (7.5%) HP:0001508
35 splenomegaly 33 occasional (7.5%) HP:0001744
36 hepatomegaly 33 occasional (7.5%) HP:0002240
37 abnormal facial shape 33 occasional (7.5%) HP:0001999
38 hepatic failure 33 occasional (7.5%) HP:0001399
39 chronic diarrhea 33 occasional (7.5%) HP:0002028
40 recurrent respiratory infections 33 HP:0002205
41 hypertonia 33 HP:0001276
42 generalized hypotonia 33 HP:0001290
43 cerebral atrophy 33 HP:0002059
44 abnormal protein n-linked glycosylation 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
cerebral atrophy
axial hypotonia
uncoordinated movements
lack of speech
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
increased alkaline phosphatase
abnormal liver enzymes
serum transferrin isoelectric focusing shows type 2 pattern
sialylation defects
galactosylation defects
more
Head And Neck Eyes:
nystagmus (1 patient)

Growth Other:
failure to thrive (1 patient)

Abdomen Spleen:
splenomegaly (1 patient)

Skin Nails Hair Hair:
thick hair (1 patient)

Respiratory:
recurrent respiratory infections

Muscle Soft Tissue:
hypotonia

Abdomen Liver:
liver failure (1 patient)
hepatomegaly (1 patient)
cirrhosis (1 patient)

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Face:
dysmorphic facies (1 patient)

Abdomen Gastrointestinal:
poor feeding (1 patient)
recurrent diarrhea (1 patient)
recurrent gastrointestinal infections (1 patient)

Hematology:
decreased coagulation factors

Clinical features from OMIM:

613489

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


ataxia

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iij

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iij

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2j 30 COG4

Anatomical Context for Congenital Disorder of Glycosylation, Type Iij

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

42
Liver, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iij

Articles related to Congenital Disorder of Glycosylation, Type Iij:

# Title Authors Year
1
Identification of the first COG-CDG patient of Indian origin. ( 21185756 )
2011
2
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. ( 19494034 )
2009
3
Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. ( 19651599 )
2009

Variations for Congenital Disorder of Glycosylation, Type Iij

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

76
# Symbol AA change Variation ID SNP ID
1 COG4 p.Arg729Trp VAR_063767

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

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG4 NM_015386.2(COG4): c.2197C> T (p.Arg733Trp) single nucleotide variant Pathogenic rs267606740 GRCh37 Chromosome 16, 70515300: 70515300
2 COG4 NM_015386.2(COG4): c.2197C> T (p.Arg733Trp) single nucleotide variant Pathogenic rs267606740 GRCh38 Chromosome 16, 70481397: 70481397
3 COG4 COG4, 400-KB DEL deletion Pathogenic
4 COG4 NM_015386.2(COG4): c.697G> T (p.Glu233Ter) single nucleotide variant Pathogenic rs387907202 GRCh37 Chromosome 16, 70546183: 70546183
5 COG4 NM_015386.2(COG4): c.697G> T (p.Glu233Ter) single nucleotide variant Pathogenic rs387907202 GRCh38 Chromosome 16, 70512280: 70512280
6 COG4 NM_015386.2(COG4): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs387907203 GRCh37 Chromosome 16, 70514965: 70514965
7 COG4 NM_015386.2(COG4): c.2318T> G (p.Leu773Arg) single nucleotide variant Pathogenic rs387907203 GRCh38 Chromosome 16, 70481062: 70481062
8 COG4 NM_015386.2(COG4): c.1759C> A (p.Gln587Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs113455884 GRCh37 Chromosome 16, 70517824: 70517824
9 COG4 NM_015386.2(COG4): c.1759C> A (p.Gln587Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs113455884 GRCh38 Chromosome 16, 70483921: 70483921
10 COG4 NM_015386.2(COG4): c.2310C> G (p.Arg770=) single nucleotide variant Conflicting interpretations of pathogenicity rs533161794 GRCh37 Chromosome 16, 70514973: 70514973
11 COG4 NM_015386.2(COG4): c.2310C> G (p.Arg770=) single nucleotide variant Conflicting interpretations of pathogenicity rs533161794 GRCh38 Chromosome 16, 70481070: 70481070
12 COG4 NM_015386.2(COG4): c.529C> T (p.Arg177Ter) single nucleotide variant Likely pathogenic rs376663459 GRCh37 Chromosome 16, 70548253: 70548253
13 COG4 NM_015386.2(COG4): c.529C> T (p.Arg177Ter) single nucleotide variant Likely pathogenic rs376663459 GRCh38 Chromosome 16, 70514350: 70514350
14 COG4 NM_015386.2(COG4): c.1195+8C> T single nucleotide variant Benign/Likely benign rs80034177 GRCh38 Chromosome 16, 70500950: 70500950
15 COG4 NM_015386.2(COG4): c.1195+8C> T single nucleotide variant Benign/Likely benign rs80034177 GRCh37 Chromosome 16, 70534853: 70534853
16 COG4 NM_015386.2(COG4): c.739-9C> G single nucleotide variant Benign rs16970243 GRCh38 Chromosome 16, 70510030: 70510030
17 COG4 NM_015386.2(COG4): c.739-9C> G single nucleotide variant Benign rs16970243 GRCh37 Chromosome 16, 70543933: 70543933
18 COG4 NM_015386.2(COG4): c.2225A> G (p.Asn742Ser) single nucleotide variant Uncertain significance rs200259754 GRCh37 Chromosome 16, 70515272: 70515272
19 COG4 NM_015386.2(COG4): c.2225A> G (p.Asn742Ser) single nucleotide variant Uncertain significance rs200259754 GRCh38 Chromosome 16, 70481369: 70481369
20 COG4 NM_015386.2(COG4): c.1005C> T (p.Phe335=) single nucleotide variant Likely benign rs183569708 GRCh38 Chromosome 16, 70508462: 70508462
21 COG4 NM_015386.2(COG4): c.1005C> T (p.Phe335=) single nucleotide variant Likely benign rs183569708 GRCh37 Chromosome 16, 70542365: 70542365
22 COG4 NM_015386.2(COG4): c.1472C> G (p.Ser491Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 70531133: 70531133
23 COG4 NM_015386.2(COG4): c.1472C> G (p.Ser491Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 70497230: 70497230
24 COG4 NM_015386.2(COG4): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 70514340: 70514340
25 COG4 NM_015386.2(COG4): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 70548243: 70548243
26 COG4 NM_015386.2(COG4): c.1894T> C (p.Phe632Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 70482755: 70482755
27 COG4 NM_015386.2(COG4): c.1894T> C (p.Phe632Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 70516658: 70516658
28 COG4 NM_015386.2(COG4): c.6delG (p.Thr3Profs) deletion Pathogenic GRCh37 Chromosome 16, 70557441: 70557441
29 COG4 NM_015386.2(COG4): c.6delG (p.Thr3Profs) deletion Pathogenic GRCh38 Chromosome 16, 70523538: 70523538

Expression for Congenital Disorder of Glycosylation, Type Iij

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

Pathways for Congenital Disorder of Glycosylation, Type Iij

GO Terms for Congenital Disorder of Glycosylation, Type Iij

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.43 COG1 COG4 COG5
2 Golgi membrane GO:0000139 9.33 COG1 COG4 COG5
3 trans-Golgi network membrane GO:0032588 9.13 COG1 COG4 COG5
4 Golgi transport complex GO:0017119 8.8 COG1 COG4 COG5

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 COG1 COG4 COG5
2 Golgi organization GO:0007030 9.26 COG1 COG4
3 intra-Golgi vesicle-mediated transport GO:0006891 8.96 COG1 COG5
4 ER to Golgi vesicle-mediated transport GO:0006888 8.8 COG1 COG4 COG5

Molecular functions related to Congenital Disorder of Glycosylation, Type Iij according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 8.62 ALG2 DCN

Sources for Congenital Disorder of Glycosylation, Type Iij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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