CDG2J
MCID: CNG201
MIFTS: 44

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, Smell/Taste 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 56 13 71
Congenital Disorder of Glycosylation Type Iij 12 58 73 15
Congenital Disorder of Glycosylation Type 2j 12 58 29 6
Cdg2j 56 12 58 73
Cdg Iij 56 12 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iij 12 58
Cdg Syndrome Type Iij 12 58
Cdg-Iij 58 73
Cdgiij 56 73
Glycosylation, Congenital Disorder of, Type Iij 39
Congenital Disorder of Glycosylation 2j 73
Cdg Iij; Cdgiij 56
Cog4-Cdg 58
Cdgiidj 12

Characteristics:

Orphanet epidemiological data:

58
cog4-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
congenital disorder of glycosylation, type iij:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Iij

UniProtKB/Swiss-Prot : 73 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 carbohydrate metabolic disorder and congenital disorders of n-linked glycosylation and multiple pathway, 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, eye and bone, and related phenotypes are abnormal protein o-linked glycosylation and hyperreflexia

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.

More information from OMIM: 613489 PS212066

Related Diseases for Congenital Disorder of Glycosylation, Type Iij

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 carbohydrate metabolic disorder 9.6 COG7 ALG2
2 congenital disorders of n-linked glycosylation and multiple pathway 9.6 ALG2 ALG12
3 congenital disorder of glycosylation, type iib 9.5 ALG2 ALG12
4 congenital disorder of glycosylation, type iig 9.3 COG1 ALG2 ALG12
5 congenital disorder of glycosylation, type iih 9.1 COG8 COG7 COG1 ALG2
6 congenital disorder of glycosylation, type iil 9.1 COG7 COG4 COG1 ALG12
7 congenital disorder of glycosylation, type iid 9.0 COG7 COG1 ALG2 ALG12
8 cone-rod dystrophy, x-linked, 2 8.9 COG8 COG5 COG4 COG3 COG1
9 congenital disorder of glycosylation, type iii 8.6 COG8 COG7 COG5 COG4 COG1 ALG2
10 cone-rod dystrophy, x-linked, 1 8.5 COG8 COG7 COG5 COG4 COG3 COG1
11 congenital disorder of glycosylation, type ii 7.6 COG8 COG7 COG5 COG4 COG3 COG1
12 congenital disorder of glycosylation, type in 7.6 COG8 COG7 COG5 COG4 COG3 COG1

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal protein o-linked glycosylation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012358
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 feeding difficulties 58 31 occasional (7.5%) Frequent (79-30%) HP:0011968
7 microcephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000252
8 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
9 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
10 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
11 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
12 cirrhosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0001394
13 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
14 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
15 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
16 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
17 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
18 frontotemporal cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006892
19 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
20 thick hair 58 31 occasional (7.5%) Frequent (79-30%) HP:0100874
21 abnormality of the coagulation cascade 58 31 frequent (33%) Frequent (79-30%) HP:0003256
22 generalized neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008935
23 intermittent diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002254
24 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
25 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
26 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
27 complex febrile seizures 58 31 frequent (33%) Frequent (79-30%) HP:0011172
28 type ii transferrin isoform profile 58 31 frequent (33%) Frequent (79-30%) HP:0012301
29 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
30 neonatal sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0040187
31 recurrent infection of the gastrointestinal tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0004798
32 fatal liver failure in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006583
33 seizures 31 occasional (7.5%) HP:0001250
34 failure to thrive 31 occasional (7.5%) HP:0001508
35 splenomegaly 31 occasional (7.5%) HP:0001744
36 hepatomegaly 31 occasional (7.5%) HP:0002240
37 abnormal facial shape 31 occasional (7.5%) HP:0001999
38 hepatic failure 31 occasional (7.5%) HP:0001399
39 chronic diarrhea 31 occasional (7.5%) HP:0002028
40 recurrent respiratory infections 31 HP:0002205
41 hypertonia 31 HP:0001276
42 generalized hypotonia 31 HP:0001290
43 cerebral atrophy 31 HP:0002059
44 abnormal protein n-linked glycosylation 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Congenital Disorder of Glycosylation, Type Iij according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.62 COG1 COG8

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:

40
Liver, Eye, Bone, Skin

Publications for Congenital Disorder of Glycosylation, Type Iij

Articles related to Congenital Disorder of Glycosylation, Type Iij:

# Title Authors PMID Year
1
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. 61 56 6
19494034 2009
2
Identification of the first COG-CDG patient of Indian origin. 56 6
21185756 2011
3
Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. 6
19651599 2009
4
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. 56
16356446 2005
5
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005

Variations for Congenital Disorder of Glycosylation, Type Iij

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COG4 COG4, 400-KB DELdeletion Pathogenic 3653
2 COG4 NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)SNV Pathogenic 3652 rs267606740 16:70515300-70515300 16:70481397-70481397
3 COG4 NM_015386.3(COG4):c.697G>T (p.Glu233Ter)SNV Pathogenic 31927 rs387907202 16:70546183-70546183 16:70512280-70512280
4 COG4 NM_015386.3(COG4):c.2318T>G (p.Leu773Arg)SNV Pathogenic 31928 rs387907203 16:70514965-70514965 16:70481062-70481062
5 COG4 NM_015386.3(COG4):c.6del (p.Thr3fs)deletion Pathogenic 571433 rs937887233 16:70557441-70557441 16:70523538-70523538
6 COG4 NM_015386.3(COG4):c.529C>T (p.Arg177Ter)SNV Likely pathogenic 208568 rs376663459 16:70548253-70548253 16:70514350-70514350
7 COG4 NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)SNV Conflicting interpretations of pathogenicity 449730 rs1555575860 16:70530270-70530270 16:70496367-70496367
8 COG4 NM_015386.3(COG4):c.1472C>G (p.Ser491Cys)SNV Uncertain significance 583059 rs1567729648 16:70531133-70531133 16:70497230-70497230
9 COG4 NM_015386.3(COG4):c.539A>G (p.Lys180Arg)SNV Uncertain significance 582178 rs138693104 16:70548243-70548243 16:70514340-70514340
10 COG4 NM_015386.3(COG4):c.1894T>C (p.Phe632Leu)SNV Uncertain significance 569846 rs138701123 16:70516658-70516658 16:70482755-70482755
11 COG4 NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)SNV Uncertain significance 392503 rs200259754 16:70515272-70515272 16:70481369-70481369
12 COG4 NM_015386.3(COG4):c.2083G>T (p.Val695Leu)SNV Uncertain significance 655434 16:70515690-70515690 16:70481787-70481787
13 COG4 NM_015386.3(COG4):c.1798G>A (p.Val600Met)SNV Uncertain significance 665763 16:70517785-70517785 16:70483882-70483882
14 COG4 NM_015386.3(COG4):c.1141A>G (p.Ile381Val)SNV Uncertain significance 664961 16:70534915-70534915 16:70501012-70501012
15 COG4 NM_015386.3(COG4):c.1106G>A (p.Arg369His)SNV Uncertain significance 664393 16:70534950-70534950 16:70501047-70501047
16 COG4 NM_015386.3(COG4):c.1314+86A>CSNV Benign 803270 16:70531754-70531754 16:70497851-70497851
17 COG4 NM_015386.3(COG4):c.485C>T (p.Thr162Ile)SNV Benign 95697 rs3931036 16:70548297-70548297 16:70514394-70514394
18 COG4 NM_015386.3(COG4):c.739-9C>GSNV Benign 320377 rs16970243 16:70543933-70543933 16:70510030-70510030

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

73
# Symbol AA change Variation ID SNP ID
1 COG4 p.Arg729Trp VAR_063767

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 membrane GO:0016020 9.92 COG8 COG7 COG5 COG4 COG3 COG1
2 Golgi apparatus GO:0005794 9.73 COG8 COG7 COG5 COG4 COG3 COG1
3 Golgi membrane GO:0000139 9.63 COG8 COG7 COG5 COG4 COG3 COG1
4 trans-Golgi network membrane GO:0032588 9.43 COG8 COG7 COG5 COG4 COG3 COG1
5 Golgi transport complex GO:0017119 9.1 COG8 COG7 COG5 COG4 COG3 COG1

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 9.63 COG8 COG7 COG5 COG4 COG3 COG1
2 protein glycosylation GO:0006486 9.62 COG7 COG3 ALG2 ALG12
3 Golgi organization GO:0007030 9.56 COG7 COG4 COG3 COG1
4 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.54 COG7 COG4 COG3
5 protein localization to organelle GO:0033365 9.46 COG7 COG3
6 mannosylation GO:0097502 9.43 ALG2 ALG12
7 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.4 ALG2 ALG12
8 intra-Golgi vesicle-mediated transport GO:0006891 9.26 COG8 COG5 COG3 COG1
9 ER to Golgi vesicle-mediated transport GO:0006888 9.1 COG8 COG7 COG5 COG4 COG3 COG1

Sources for Congenital Disorder of Glycosylation, Type Iij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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