CDG2J
MCID: CNG201
MIFTS: 41

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 57 13 73
Congenital Disorder of Glycosylation Type Iij 12 59 75 15
Congenital Disorder of Glycosylation Type 2j 12 59 29 6
Cdg2j 57 12 59 75
Cdg Iij 57 12 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iij 12 59
Cdg Syndrome Type Iij 12 59
Cdg-Iij 59 75
Cdgiij 57 75
Glycosylation, Congenital Disorder of, Type Iij 40
Congenital Disorder of Glycosylation 2j 75
Cdg Iij; Cdgiij 57
Cog4-Cdg 59
Cdgiidj 12

Characteristics:

Orphanet epidemiological data:

59
cog4-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
congenital disorder of glycosylation, type iij:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iij

UniProtKB/Swiss-Prot : 75 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 nystagmus and ataxia

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 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 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 10.0 COG4 COG5
2 cone-rod dystrophy, x-linked, 2 9.9 COG4 COG5
3 congenital disorder of glycosylation, type iih 9.8 ALG2 COG1
4 congenital disorder of glycosylation, type iim 9.6 ALG2 COG1
5 congenital disorder of glycosylation, type iii 9.6 ALG2 COG1 COG5
6 congenital disorder of glycosylation, type ii 9.5 ALG2 COG1 COG4 COG5
7 congenital disorder of glycosylation, type in 9.4 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

Symptoms via clinical synopsis from OMIM:

57
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)

Head And Neck Head:
microcephaly (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)

Growth Other:
failure to thrive (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

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

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000639
2 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
5 microcephaly 59 32 occasional (7.5%) Frequent (79-30%) HP:0000252
6 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
7 feeding difficulties 59 32 occasional (7.5%) Frequent (79-30%) HP:0011968
8 recurrent upper respiratory tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0002788
9 absent speech 59 32 frequent (33%) Frequent (79-30%) HP:0001344
10 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
11 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
12 cirrhosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0001394
13 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
14 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
15 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
16 frontotemporal cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006892
17 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
18 generalized neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008935
19 abnormality of the coagulation cascade 59 32 frequent (33%) Frequent (79-30%) HP:0003256
20 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
21 elevated alkaline phosphatase 59 32 frequent (33%) Frequent (79-30%) HP:0003155
22 thick hair 59 32 occasional (7.5%) Frequent (79-30%) HP:0100874
23 intermittent diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002254
24 abnormal protein o-linked glycosylation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012358
25 limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0002509
26 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
27 complex febrile seizures 59 32 frequent (33%) Frequent (79-30%) HP:0011172
28 type ii transferrin isoform profile 59 32 frequent (33%) Frequent (79-30%) HP:0012301
29 recurrent infection of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0004798
30 fatal liver failure in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006583
31 neonatal sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0040187
32 seizures 32 occasional (7.5%) HP:0001250
33 failure to thrive 32 occasional (7.5%) HP:0001508
34 splenomegaly 32 occasional (7.5%) HP:0001744
35 recurrent respiratory infections 32 HP:0002205
36 hepatomegaly 32 occasional (7.5%) HP:0002240
37 abnormal facial shape 32 occasional (7.5%) HP:0001999
38 hypertonia 32 HP:0001276
39 elevated hepatic transaminases 59 Frequent (79-30%)
40 chronic diarrhea 32 occasional (7.5%) HP:0002028
41 hepatic failure 32 occasional (7.5%) HP:0001399
42 generalized hypotonia 32 HP:0001290
43 cerebral atrophy 32 HP:0002059
44 abnormal protein n-linked glycosylation 59 Very frequent (99-80%)
45 elevated hepatic transaminase 32 frequent (33%) HP:0002910

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 29 COG4

Anatomical Context for Congenital Disorder of Glycosylation, Type Iij

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

41
Liver, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iij

Variations for Congenital Disorder of Glycosylation, Type Iij

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

75
# 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 GRCh38 Chromosome 16, 70481369: 70481369
19 COG4 NM_015386.2(COG4): c.2225A> G (p.Asn742Ser) single nucleotide variant Uncertain significance rs200259754 GRCh37 Chromosome 16, 70515272: 70515272
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 rs138693104 GRCh38 Chromosome 16, 70514340: 70514340
25 COG4 NM_015386.2(COG4): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance rs138693104 GRCh37 Chromosome 16, 70548243: 70548243
26 COG4 NM_015386.2(COG4): c.1894T> C (p.Phe632Leu) single nucleotide variant Uncertain significance rs138701123 GRCh38 Chromosome 16, 70482755: 70482755
27 COG4 NM_015386.2(COG4): c.1894T> C (p.Phe632Leu) single nucleotide variant Uncertain significance rs138701123 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

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7 CNVD
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17 ExPASy
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74 UMLS via Orphanet
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