CDG2I
MCID: CNG203
MIFTS: 41

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 58 13 74
Congenital Disorder of Glycosylation Type Iii 12 60 76 15
Congenital Disorder of Glycosylation Type 2i 12 60 30 6
Cdg2i 58 12 60 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iii 12 60
Cdgiii 58 76
Congenital Disorder of Glycosylation, Type I-Iix 74
Glycosylation, Congenital Disorder of, Type Iii 41
Congenital Disorder of Glycosylation 2i 76
Cdg Iii; Cdgiii 58
Cog5-Cdg 60
Cdgiidi 12

Characteristics:

Orphanet epidemiological data:

60
cog5-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070261
OMIM 58 613612
MeSH 45 D018981
ICD10 via Orphanet 35 E77.8
Orphanet 60 ORPHA263487
MedGen 43 C3150876

Summaries for Congenital Disorder of Glycosylation, Type Iii

UniProtKB/Swiss-Prot : 76 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 congenital disorder of glycosylation, type ih. 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 and Metabolism of proteins. 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 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 Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 cog5-congenital disorder of glycosylation 12.0
2 congenital disorder of glycosylation, type ih 10.3 ALG2 ALG8
3 congenital disorder of glycosylation, type iij 10.2 ALG2 COG1 COG5
4 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.2 ALG3 PMM2
5 walker-warburg syndrome 10.1 ALG1 ALG2 DPM2
6 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 10.1 ALG3 PMM2
7 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 10.1 ALG3 PMM2
8 carbohydrate metabolic disorder 10.1 ALG2 ALG6 PMM2
9 congenital disorder of glycosylation, type iid 10.1 ALG2 B4GALT1 PMM2
10 congenital disorder of glycosylation, type iif 10.0 ALG2 B4GALT1 PMM2
11 congenital disorder of glycosylation, type iik 10.0 APOC3 PMM2
12 congenital disorder of glycosylation, type iia 9.9 ALG2 DPM1 PMM2
13 congenital disorder of glycosylation, type iih 9.8 ALG2 APOC3 COG1 PIGA
14 congenital disorder of glycosylation, type ii 9.8 ALG2 APOC3 COG1 COG5 PMM2
15 protein-losing enteropathy 9.8 ALG6 SERPINA1
16 congenital disorder of glycosylation, type ie 9.8 DPM1 PMM2
17 fructose intolerance, hereditary 9.8 ALG2 PMM2 SERPINA1
18 congenital disorder of glycosylation, type ia 9.7 PMM2 SERPINA7 SERPINC1
19 epileptic encephalopathy, early infantile, 36 9.7 ALG1 ALG2 ALG6 DPM2 PMM2 SRD5A3
20 subendocardial myocardial infarction 9.7 SERPINA1 SERPINC1
21 congenital disorder of glycosylation, type iim 9.4 ALG2 APOC3 B4GALT1 COG1 PIGA PMM2
22 congenital disorder of glycosylation, type in 8.7 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

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

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

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscular hypotonia 33 HP:0001252
3 truncal ataxia 33 HP:0002078
4 cerebellar atrophy 33 HP:0001272
5 atrophy/degeneration affecting the brainstem 33 HP:0007366
6 type i transferrin isoform profile 33 HP:0003642

Clinical features from OMIM:

613612

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.88 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 Decreased shRNA abundance GR00297-A 9.26 ALG1 DPM2 PMM2 SRD5A3

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 30 COG5

Anatomical Context for Congenital Disorder of Glycosylation, Type Iii

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

42
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
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. ( 19690088 )
2009
2
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 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG5 NM_006348.3(COG5): c.1669-15A> G single nucleotide variant Pathogenic GRCh37 Chromosome 7, 106898843: 106898843
2 COG5 NM_006348.3(COG5): c.1669-15A> G single nucleotide variant Pathogenic GRCh38 Chromosome 7, 107258398: 107258398
3 COG5 NM_006348.3(COG5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Benign/Likely benign rs41276187 GRCh37 Chromosome 7, 106938653: 106938653
4 COG5 NM_006348.3(COG5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Benign/Likely benign rs41276187 GRCh38 Chromosome 7, 107298208: 107298208
5 COG5 NM_001161520.1(COG5): c.1919T> C (p.Ile640Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142433421 GRCh37 Chromosome 7, 106888868: 106888868
6 COG5 NM_001161520.1(COG5): c.1919T> C (p.Ile640Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142433421 GRCh38 Chromosome 7, 107248423: 107248423
7 COG5 NM_006348.3(COG5): c.1130C> T (p.Pro377Leu) single nucleotide variant Uncertain significance rs143773937 GRCh37 Chromosome 7, 106964956: 106964956
8 COG5 NM_006348.3(COG5): c.1130C> T (p.Pro377Leu) single nucleotide variant Uncertain significance rs143773937 GRCh38 Chromosome 7, 107324511: 107324511
9 COG5 NM_006348.3(COG5): c.969T> G (p.Thr323=) single nucleotide variant Conflicting interpretations of pathogenicity rs74522314 GRCh38 Chromosome 7, 107362380: 107362380
10 COG5 NM_006348.3(COG5): c.969T> G (p.Thr323=) single nucleotide variant Conflicting interpretations of pathogenicity rs74522314 GRCh37 Chromosome 7, 107002825: 107002825
11 COG5 NM_006348.3(COG5): c.1350A> G (p.Leu450=) single nucleotide variant Conflicting interpretations of pathogenicity rs74443110 GRCh38 Chromosome 7, 107298198: 107298198
12 COG5 NM_006348.3(COG5): c.1350A> G (p.Leu450=) single nucleotide variant Conflicting interpretations of pathogenicity rs74443110 GRCh37 Chromosome 7, 106938643: 106938643
13 COG5 NM_006348.3(COG5): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs35581984 GRCh37 Chromosome 7, 106888867: 106888867
14 COG5 NM_006348.3(COG5): c.1920C> T (p.Ile640=) single nucleotide variant Benign/Likely benign rs35581984 GRCh38 Chromosome 7, 107248422: 107248422
15 COG5 NM_006348.3(COG5): c.2324C> T (p.Pro775Leu) single nucleotide variant Likely pathogenic rs1135401817 GRCh37 Chromosome 7, 106851608: 106851608
16 COG5 NM_006348.3(COG5): c.2324C> T (p.Pro775Leu) single nucleotide variant Likely pathogenic rs1135401817 GRCh38 Chromosome 7, 107211163: 107211163
17 COG5 NM_006348.3(COG5): c.1508dup (p.Gly505Trpfs) duplication Pathogenic rs773281248 GRCh38 Chromosome 7, 107283631: 107283631
18 COG5 NM_006348.3(COG5): c.1508dup (p.Gly505Trpfs) duplication Pathogenic rs773281248 GRCh37 Chromosome 7, 106924076: 106924076
19 COG5 NM_006348.3(COG5): c.1171C> G (p.Leu391Val) single nucleotide variant Uncertain significance rs762031095 GRCh37 Chromosome 7, 106964915: 106964915
20 COG5 NM_006348.3(COG5): c.1171C> G (p.Leu391Val) single nucleotide variant Uncertain significance rs762031095 GRCh38 Chromosome 7, 107324470: 107324470
21 COG5 NM_006348.3(COG5): c.1849C> T (p.His617Tyr) single nucleotide variant Uncertain significance rs151129529 GRCh37 Chromosome 7, 106888938: 106888938
22 COG5 NM_006348.3(COG5): c.1849C> T (p.His617Tyr) single nucleotide variant Uncertain significance rs151129529 GRCh38 Chromosome 7, 107248493: 107248493
23 COG5 NM_006348.3(COG5): c.1056A> G (p.Gln352=) single nucleotide variant Uncertain significance rs375846157 GRCh37 Chromosome 7, 107002541: 107002541
24 COG5 NM_006348.3(COG5): c.1056A> G (p.Gln352=) single nucleotide variant Uncertain significance rs375846157 GRCh38 Chromosome 7, 107362096: 107362096
25 COG5 NM_006348.3(COG5): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs755030238 GRCh37 Chromosome 7, 107188756: 107188756
26 COG5 NM_006348.3(COG5): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs755030238 GRCh38 Chromosome 7, 107548311: 107548311
27 COG5 NM_006348.3(COG5): c.189delG (p.Cys64Valfs) deletion Pathogenic rs1554464495 GRCh37 Chromosome 7, 107198559: 107198559
28 COG5 NM_006348.3(COG5): c.189delG (p.Cys64Valfs) deletion Pathogenic rs1554464495 GRCh38 Chromosome 7, 107558114: 107558114
29 COG5 NM_006348.3(COG5): c.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh37 Chromosome 7, 107204292: 107204292
30 COG5 NM_006348.3(COG5): c.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh38 Chromosome 7, 107563847: 107563847
31 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh38 Chromosome 7, 107548327: 107548327
32 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh37 Chromosome 7, 107188772: 107188772
33 COG5 NM_006348.3(COG5): c.644A> G (p.Gln215Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 107412620: 107412620
34 COG5 NM_006348.3(COG5): c.644A> G (p.Gln215Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 107053065: 107053065
35 COG5 NM_006348.3(COG5): c.2440T> C (p.Ser814Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 106850999: 106850999
36 COG5 NM_006348.3(COG5): c.2440T> C (p.Ser814Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 107210554: 107210554
37 COG5 NM_006348.3(COG5): c.1628C> G (p.Ala543Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 107281340: 107281340
38 COG5 NM_006348.3(COG5): c.1628C> G (p.Ala543Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 106921785: 106921785

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2
Show member pathways
13.56 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
3
Show member pathways
12.89 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
4
Show member pathways
11.94 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
5
Show member pathways
11.54 DPM1 DPM2 PIGA
6
Show member pathways
11.07 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

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 endoplasmic reticulum GO:0005783 9.65 ALG1 ALG3 ALG6 ALG8 ALG9 DPM1
2 Golgi transport complex GO:0017119 9.32 COG1 COG5
3 endoplasmic reticulum membrane GO:0005789 9.32 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
4 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.26 DPM2 PIGA
5 dolichol-phosphate-mannose synthase complex GO:0033185 9.16 DPM1 DPM2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.7 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 protein N-linked glycosylation GO:0006487 9.67 ALG6 ALG8 B4GALT1 PMM2
3 negative regulation of endopeptidase activity GO:0010951 9.65 SERPINA1 SERPINA7 SERPINC1
4 mannosylation GO:0097502 9.63 ALG1 ALG2 ALG3 ALG8 ALG9 DPM1
5 GPI anchor biosynthetic process GO:0006506 9.58 DPM1 DPM2 PIGA
6 dolichol metabolic process GO:0019348 9.5 DPM1 DPM2 SRD5A3
7 intra-Golgi vesicle-mediated transport GO:0006891 9.49 COG1 COG5
8 preassembly of GPI anchor in ER membrane GO:0016254 9.46 DPM2 PIGA
9 protein O-linked mannosylation GO:0035269 9.43 DPM1 DPM2
10 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.43 ALG2 ALG6 ALG8
11 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.17 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 serine-type endopeptidase inhibitor activity GO:0004867 9.58 SERPINA1 SERPINA7 SERPINC1
3 transferase activity, transferring hexosyl groups GO:0016758 9.48 ALG6 ALG8
4 enzyme regulator activity GO:0030234 9.46 APOC3 DPM2
5 mannosyltransferase activity GO:0000030 9.43 ALG1 ALG9
6 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.37 ALG6 ALG8
7 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.32 DPM1 DPM2
8 transferase activity, transferring glycosyl groups GO:0016757 9.28 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
9 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 9.16 ALG6 ALG8
10 alpha-1,3-mannosyltransferase activity GO:0000033 9.13 ALG2 ALG3 ALG8

Sources for Congenital Disorder of Glycosylation, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....