MCID: CNG201
MIFTS: 26

Congenital Disorder of Glycosylation, Type Iij

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare 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 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 2j 59 29 6
Cdg2j 57 59 75
Congenital Disorder of Glycosylation Type Iij 59 75
Cdg Iij 57 75
Cdg-Iij 59 75
Cdgiij 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iij 59
Glycosylation, Congenital Disorder of, Type Iij 40
Congenital Disorder of Glycosylation 2j 75
Cdg Syndrome Type Iij 59
Cdg Iij; Cdgiij 57
Cog4-Cdg 59

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, is also known as congenital disorder of glycosylation type 2j, and has symptoms including ataxia An important gene associated with Congenital Disorder of Glycosylation, Type Iij is COG4 (Component Of Oligomeric Golgi Complex 4). Affiliated tissues include liver, and related phenotypes are nystagmus and ataxia

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 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

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)

AbdomenSpleen:
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 43)
# 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 elevated hepatic transaminases 59 32 frequent (33%) Frequent (79-30%) HP:0002910
13 cirrhosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0001394
14 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
15 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
16 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
17 frontotemporal cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006892
18 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
19 generalized neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0008935
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 abnormality of the coagulation cascade 59 32 frequent (33%) Frequent (79-30%) HP:0003256
27 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
28 complex febrile seizures 59 32 frequent (33%) Frequent (79-30%) HP:0011172
29 type ii transferrin isoform profile 59 32 frequent (33%) Frequent (79-30%) HP:0012301
30 recurrent infection of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0004798
31 fatal liver failure in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006583
32 neonatal sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0040187
33 seizures 32 occasional (7.5%) HP:0001250
34 failure to thrive 32 occasional (7.5%) HP:0001508
35 splenomegaly 32 occasional (7.5%) HP:0001744
36 recurrent respiratory infections 32 HP:0002205
37 hepatomegaly 32 occasional (7.5%) HP:0002240
38 abnormal facial shape 32 occasional (7.5%) HP:0001999
39 chronic diarrhea 32 occasional (7.5%) HP:0002028
40 hepatic failure 32 occasional (7.5%) HP:0001399
41 cerebral atrophy 32 HP:0002059
42 generalized hypotonia 32 HP:0001290
43 abnormal protein n-linked glycosylation 59 Very frequent (99-80%)

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

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 19)
# 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.2310C> G (p.Arg770=) single nucleotide variant Conflicting interpretations of pathogenicity rs533161794 GRCh37 Chromosome 16, 70514973: 70514973
9 COG4 NM_015386.2(COG4): c.2310C> G (p.Arg770=) single nucleotide variant Conflicting interpretations of pathogenicity rs533161794 GRCh38 Chromosome 16, 70481070: 70481070
10 COG4 NM_015386.2(COG4): c.529C> T (p.Arg177Ter) single nucleotide variant Likely pathogenic rs376663459 GRCh37 Chromosome 16, 70548253: 70548253
11 COG4 NM_015386.2(COG4): c.529C> T (p.Arg177Ter) single nucleotide variant Likely pathogenic rs376663459 GRCh38 Chromosome 16, 70514350: 70514350
12 COG4 NM_015386.2(COG4): c.1195+8C> T single nucleotide variant Benign/Likely benign rs80034177 GRCh38 Chromosome 16, 70500950: 70500950
13 COG4 NM_015386.2(COG4): c.1195+8C> T single nucleotide variant Benign/Likely benign rs80034177 GRCh37 Chromosome 16, 70534853: 70534853
14 COG4 NM_015386.2(COG4): c.739-9C> G single nucleotide variant Benign rs16970243 GRCh38 Chromosome 16, 70510030: 70510030
15 COG4 NM_015386.2(COG4): c.739-9C> G single nucleotide variant Benign rs16970243 GRCh37 Chromosome 16, 70543933: 70543933
16 COG4 NM_015386.2(COG4): c.2225A> G (p.Asn742Ser) single nucleotide variant Uncertain significance rs200259754 GRCh38 Chromosome 16, 70481369: 70481369
17 COG4 NM_015386.2(COG4): c.2225A> G (p.Asn742Ser) single nucleotide variant Uncertain significance rs200259754 GRCh37 Chromosome 16, 70515272: 70515272
18 COG4 NM_015386.2(COG4): c.1005C> T (p.Phe335=) single nucleotide variant Likely benign rs183569708 GRCh38 Chromosome 16, 70508462: 70508462
19 COG4 NM_015386.2(COG4): c.1005C> T (p.Phe335=) single nucleotide variant Likely benign rs183569708 GRCh37 Chromosome 16, 70542365: 70542365

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

Sources for Congenital Disorder of Glycosylation, Type Iij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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