CDG2I
MCID: CNG203
MIFTS: 39

Congenital Disorder of Glycosylation, Type Iii (CDG2I)

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 Iii

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

Name: Congenital Disorder of Glycosylation, Type Iii 57 13 73
Congenital Disorder of Glycosylation Type Iii 12 59 75 15
Congenital Disorder of Glycosylation Type 2i 12 59 29 6
Cdg2i 57 12 59 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iii 12 59
Cdgiii 57 75
Congenital Disorder of Glycosylation, Type I-Iix 73
Glycosylation, Congenital Disorder of, Type Iii 40
Congenital Disorder of Glycosylation 2i 75
Cdg Iii; Cdgiii 57
Cog5-Cdg 59
Cdgiidi 12

Characteristics:

Orphanet epidemiological data:

59
cog5-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

OMIM 57 613612
Disease Ontology 12 DOID:0070261
Orphanet 59 ORPHA263487
ICD10 via Orphanet 34 E77.8
MedGen 42 C3150876
MeSH 44 D018981

Summaries for Congenital Disorder of Glycosylation, Type Iii

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 2I: 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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iii, also known as congenital disorder of glycosylation type iii, is related to cog5-congenital disorder of glycosylation and epileptic encephalopathy, early infantile, 36. An important gene associated with Congenital Disorder of Glycosylation, Type Iii is COG5 (Component Of Oligomeric Golgi Complex 5), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include skin, liver and bone, and related phenotypes are intellectual disability and muscular hypotonia

Disease Ontology : 12 A congenital disorder of glycosylation type II that has material basis in a mutation of COG5 on chromosome 7q22.3.

Description from OMIM: 613612

Related Diseases for Congenital Disorder of Glycosylation, Type Iii

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cog5-congenital disorder of glycosylation 12.0
2 epileptic encephalopathy, early infantile, 36 10.1 ALG2 PMM2
3 carbohydrate metabolic disorder 10.1 ALG2 PMM2
4 congenital disorder of glycosylation, type iij 10.1 ALG2 COG1 COG5
5 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.0 PMM2 TF
6 congenital disorder of glycosylation, type iid 9.9 ALG2 PMM2 TF
7 congenital disorder of glycosylation, type iia 9.9 ALG2 PMM2 TF
8 congenital disorder of glycosylation, type iif 9.9 ALG2 PMM2 TF
9 subendocardial myocardial infarction 9.9 SERPINA1 SERPINC1
10 congenital disorder of glycosylation, type iik 9.9 APOC3 PMM2 TF
11 loeys-dietz syndrome 1 9.9 PIGA SERPINA1
12 uremia 9.9 APOC3 TF
13 ancylostomiasis 9.9 SERPINA1 TF
14 retinitis pigmentosa 7 9.8 SERPINA1 TF
15 alpha-1-antitrypsin deficiency 9.8 SERPINA1 SERPINC1
16 siderosis 9.8 SERPINA1 TF
17 testicular yolk sac tumor 9.8 SERPINA1 TF
18 inherited metabolic disorder 9.8 SERPINA1 TF
19 hemorrhagic disease 9.7 SERPINA1 SERPINC1
20 congenital disorder of glycosylation, type ia 9.7 PMM2 SERPINA7 SERPINC1 TF
21 liver cirrhosis 9.7 SERPINA1 SERPINC1 TF
22 congenital disorder of glycosylation, type iih 9.6 ALG2 APOC3 COG1 PIGA TF
23 fructose intolerance, hereditary 9.6 ALG2 PMM2 SERPINA1 TF
24 congenital disorder of glycosylation, type ii 9.5 ALG2 APOC3 COG1 COG5 PMM2 TF
25 congenital disorder of glycosylation, type in 9.5 ALG2 APOC3 COG1 COG5 PMM2 TF
26 congenital disorder of glycosylation, type iim 9.5 ALG2 APOC3 COG1 PIGA PMM2 TF

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



Diseases related to Congenital Disorder of Glycosylation, Type Iii

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iii

Clinical features from OMIM:

613612

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscular hypotonia 32 HP:0001252
3 truncal ataxia 32 HP:0002078
4 cerebellar atrophy 32 HP:0001272
5 atrophy/degeneration affecting the brainstem 32 HP:0007366
6 type i transferrin isoform profile 32 HP:0003642

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iii

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iii

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2i 29 COG5

Anatomical Context for Congenital Disorder of Glycosylation, Type Iii

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

41
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iii

Articles related to Congenital Disorder of Glycosylation, Type Iii:

# Title Authors Year
1
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III. ( 10401691 )
1999

Variations for Congenital Disorder of Glycosylation, Type Iii

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

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG5 COG5, IVS14AS, T-C, -15 single nucleotide variant Pathogenic
2 COG5 NM_006348.3(COG5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Benign/Likely benign rs41276187 GRCh37 Chromosome 7, 106938653: 106938653
3 COG5 NM_006348.3(COG5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Benign/Likely benign rs41276187 GRCh38 Chromosome 7, 107298208: 107298208
4 COG5 NM_001161520.1(COG5): c.1919T> C (p.Ile640Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142433421 GRCh37 Chromosome 7, 106888868: 106888868
5 COG5 NM_001161520.1(COG5): c.1919T> C (p.Ile640Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142433421 GRCh38 Chromosome 7, 107248423: 107248423
6 COG5 NM_006348.3(COG5): c.1130C> T (p.Pro377Leu) single nucleotide variant Uncertain significance rs143773937 GRCh37 Chromosome 7, 106964956: 106964956
7 COG5 NM_006348.3(COG5): c.1130C> T (p.Pro377Leu) single nucleotide variant Uncertain significance rs143773937 GRCh38 Chromosome 7, 107324511: 107324511
8 COG5 NM_006348.3(COG5): c.969T> G (p.Thr323=) single nucleotide variant Conflicting interpretations of pathogenicity rs74522314 GRCh38 Chromosome 7, 107362380: 107362380
9 COG5 NM_006348.3(COG5): c.969T> G (p.Thr323=) single nucleotide variant Conflicting interpretations of pathogenicity rs74522314 GRCh37 Chromosome 7, 107002825: 107002825
10 COG5 NM_006348.3(COG5): c.1350A> G (p.Leu450=) single nucleotide variant Conflicting interpretations of pathogenicity rs74443110 GRCh38 Chromosome 7, 107298198: 107298198
11 COG5 NM_006348.3(COG5): c.1350A> G (p.Leu450=) single nucleotide variant Conflicting interpretations of pathogenicity rs74443110 GRCh37 Chromosome 7, 106938643: 106938643
12 COG5 NM_006348.3(COG5): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs35581984 GRCh37 Chromosome 7, 106888867: 106888867
13 COG5 NM_006348.3(COG5): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs35581984 GRCh38 Chromosome 7, 107248422: 107248422
14 COG5 NM_006348.3(COG5): c.2324C> T (p.Pro775Leu) single nucleotide variant Likely pathogenic rs1135401817 GRCh37 Chromosome 7, 106851608: 106851608
15 COG5 NM_006348.3(COG5): c.2324C> T (p.Pro775Leu) single nucleotide variant Likely pathogenic rs1135401817 GRCh38 Chromosome 7, 107211163: 107211163
16 COG5 NM_006348.3(COG5): c.1508dup (p.Gly505Trpfs) duplication Pathogenic rs773281248 GRCh38 Chromosome 7, 107283631: 107283631
17 COG5 NM_006348.3(COG5): c.1508dup (p.Gly505Trpfs) duplication Pathogenic rs773281248 GRCh37 Chromosome 7, 106924076: 106924076
18 COG5 NM_006348.3(COG5): c.1849C> T (p.His617Tyr) single nucleotide variant Uncertain significance rs151129529 GRCh37 Chromosome 7, 106888938: 106888938
19 COG5 NM_006348.3(COG5): c.1849C> T (p.His617Tyr) single nucleotide variant Uncertain significance rs151129529 GRCh38 Chromosome 7, 107248493: 107248493
20 COG5 NM_006348.3(COG5): c.1056A> G (p.Gln352=) single nucleotide variant Uncertain significance rs375846157 GRCh37 Chromosome 7, 107002541: 107002541
21 COG5 NM_006348.3(COG5): c.1056A> G (p.Gln352=) single nucleotide variant Uncertain significance rs375846157 GRCh38 Chromosome 7, 107362096: 107362096
22 COG5 NM_006348.3(COG5): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs755030238 GRCh37 Chromosome 7, 107188756: 107188756
23 COG5 NM_006348.3(COG5): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs755030238 GRCh38 Chromosome 7, 107548311: 107548311
24 COG5 NM_006348.3(COG5): c.189delG (p.Cys64Valfs) deletion Pathogenic GRCh37 Chromosome 7, 107198559: 107198559
25 COG5 NM_006348.3(COG5): c.189delG (p.Cys64Valfs) deletion Pathogenic GRCh38 Chromosome 7, 107558114: 107558114
26 COG5 NM_006348.3(COG5): c.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh38 Chromosome 7, 107563847: 107563847
27 COG5 NM_006348.3(COG5): c.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh37 Chromosome 7, 107204292: 107204292
28 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh37 Chromosome 7, 107188772: 107188772
29 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh38 Chromosome 7, 107548327: 107548327
30 COG5 NM_006348.3(COG5): c.644A> G (p.Gln215Arg) single nucleotide variant Uncertain significance rs753818358 GRCh38 Chromosome 7, 107412620: 107412620
31 COG5 NM_006348.3(COG5): c.644A> G (p.Gln215Arg) single nucleotide variant Uncertain significance rs753818358 GRCh37 Chromosome 7, 107053065: 107053065
32 COG5 NM_006348.3(COG5): c.2440T> C (p.Ser814Pro) single nucleotide variant Uncertain significance rs773449359 GRCh37 Chromosome 7, 106850999: 106850999
33 COG5 NM_006348.3(COG5): c.2440T> C (p.Ser814Pro) single nucleotide variant Uncertain significance rs773449359 GRCh38 Chromosome 7, 107210554: 107210554

Expression for Congenital Disorder of Glycosylation, Type Iii

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

Pathways for Congenital Disorder of Glycosylation, Type Iii

GO Terms for Congenital Disorder of Glycosylation, Type Iii

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 APOC3 SERPINA1 SERPINA7 SERPINC1 TF
2 endoplasmic reticulum lumen GO:0005788 9.33 SERPINA1 SERPINC1 TF
3 collagen-containing extracellular matrix GO:0062023 9.13 APOC3 SERPINA1 SERPINC1
4 Golgi transport complex GO:0017119 8.62 COG1 COG5

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.54 SERPINA1 SERPINC1 TF
2 cellular protein metabolic process GO:0044267 9.33 SERPINA1 SERPINC1 TF
3 hemostasis GO:0007599 9.32 SERPINA1 SERPINC1
4 intra-Golgi vesicle-mediated transport GO:0006891 9.26 COG1 COG5
5 ER to Golgi vesicle-mediated transport GO:0006888 9.13 COG1 COG5 SERPINA1
6 negative regulation of endopeptidase activity GO:0010951 8.8 SERPINA1 SERPINA7 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 8.8 SERPINA1 SERPINA7 SERPINC1

Sources for Congenital Disorder of Glycosylation, Type Iii

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