CDG2H
MCID: CNG204
MIFTS: 41

Congenital Disorder of Glycosylation, Type Iih (CDG2H)

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 Iih

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

Name: Congenital Disorder of Glycosylation, Type Iih 58 13 74
Congenital Disorder of Glycosylation Type Iih 12 60 76 15
Congenital Disorder of Glycosylation Type 2h 12 60 30 6
Cdg2h 58 12 60 76
Cdg Iih 58 12 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iih 12 60
Cdg-Iih 60 76
Cdgiih 58 76
Glycosylation, Congenital Disorder of, Type Iih 41
Congenital Disorder of Glycosylation 2h 76
Cdg Syndrome Type Iih 60
Cdg Iih; Cdgiih 58
Cog8-Cdg 60
Cdgiidh 12

Characteristics:

Orphanet epidemiological data:

60
cog8-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070260
OMIM 58 611182
MeSH 45 D018981
ICD10 via Orphanet 35 E77.8
UMLS via Orphanet 75 C1970021
Orphanet 60 ORPHA95428
MedGen 43 C1970021
UMLS 74 C1970021

Summaries for Congenital Disorder of Glycosylation, Type Iih

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2H: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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 Iih, also known as congenital disorder of glycosylation type iih, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type ih. An important gene associated with Congenital Disorder of Glycosylation, Type Iih is COG8 (Component Of Oligomeric Golgi Complex 8), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. 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 COG8 on chromosome 16q22.1.

Description from OMIM: 611182

Related Diseases for Congenital Disorder of Glycosylation, Type Iih

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 27.3 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 congenital disorder of glycosylation, type ih 10.3 ALG2 ALG8
3 congenital disorder of glycosylation, type iij 10.3 ALG2 COG1
4 cone-rod dystrophy, x-linked, 2 10.1 COG6 COG8
5 walker-warburg syndrome 10.1 ALG1 ALG2 DPM2
6 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.0 ALG3 PMM2
7 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 10.0 ALG3 PMM2
8 carbohydrate metabolic disorder 10.0 ALG2 ALG6 PMM2
9 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 9.9 ALG3 PMM2
10 congenital disorder of glycosylation, type iid 9.9 ALG2 B4GALT1 PMM2
11 congenital disorder of glycosylation, type iif 9.9 ALG2 B4GALT1 PMM2
12 congenital disorder of glycosylation, type iik 9.8 APOC3 PMM2
13 congenital disorder of glycosylation, type iia 9.7 ALG2 DPM1 PMM2
14 congenital disorder of glycosylation, type ie 9.5 DPM1 PMM2
15 congenital disorder of glycosylation, type ii 9.5 ALG2 APOC3 COG1 COG7 COG8 PMM2
16 epileptic encephalopathy, early infantile, 36 9.4 ALG1 ALG2 ALG6 DPM2 PMM2 SRD5A3
17 congenital disorder of glycosylation, type iii 9.4 ALG2 APOC3 COG1 PIGA PMM2
18 congenital disorder of glycosylation, type iim 9.0 ALG2 APOC3 B4GALT1 COG1 COG6 PIGA

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



Diseases related to Congenital Disorder of Glycosylation, Type Iih

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iih

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscular hypotonia 33 HP:0001252
3 ventriculomegaly 33 HP:0002119
4 status epilepticus 33 HP:0002133
5 cerebellar atrophy 33 HP:0001272
6 encephalopathy 33 HP:0001298
7 alternating esotropia 33 HP:0001137
8 elevated serum creatine kinase 33 HP:0003236
9 elevated serum transaminases during infections 33 HP:0008150

Clinical features from OMIM:

611182

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.26 ALG1 DPM2 PMM2 SRD5A3
2 Decreased viability with paclitaxel GR00179-A-1 8.62 COG1 COG8

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iih

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iih

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2h 30 COG8

Anatomical Context for Congenital Disorder of Glycosylation, Type Iih

Publications for Congenital Disorder of Glycosylation, Type Iih

Articles related to Congenital Disorder of Glycosylation, Type Iih:

# Title Authors Year
1
COG8 deficiency causes new congenital disorder of glycosylation type IIh. ( 17331980 )
2007

Variations for Congenital Disorder of Glycosylation, Type Iih

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

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 COG8 NM_032382.4(COG8): c.1611C> G (p.Tyr537Ter) single nucleotide variant Pathogenic rs121434387 GRCh37 Chromosome 16, 69364970: 69364970
2 COG8 NM_032382.4(COG8): c.1611C> G (p.Tyr537Ter) single nucleotide variant Pathogenic rs121434387 GRCh38 Chromosome 16, 69331067: 69331067
3 COG8 COG8, IVS3DS, G-A, +3 single nucleotide variant Pathogenic
4 COG8 NM_032382.4(COG8): c.1687_1688delTT (p.Phe563Hisfs) deletion Pathogenic GRCh37 Chromosome 16, 69364893: 69364894
5 COG8 NM_032382.4(COG8): c.1687_1688delTT (p.Phe563Hisfs) deletion Pathogenic GRCh38 Chromosome 16, 69330990: 69330991
6 COG8 NM_032382.4(COG8): c.1589C> T (p.Pro530Leu) single nucleotide variant Benign rs114861924 GRCh37 Chromosome 16, 69364992: 69364992
7 COG8 NM_032382.4(COG8): c.1589C> T (p.Pro530Leu) single nucleotide variant Benign rs114861924 GRCh38 Chromosome 16, 69331089: 69331089
8 COG8 NM_032382.4(COG8): c.525G> A (p.Leu175=) single nucleotide variant Likely benign rs187905134 GRCh38 Chromosome 16, 69336565: 69336565
9 COG8 NM_032382.4(COG8): c.525G> A (p.Leu175=) single nucleotide variant Likely benign rs187905134 GRCh37 Chromosome 16, 69370468: 69370468
10 COG8 NM_032382.4(COG8): c.12G> T (p.Ala4=) single nucleotide variant Likely benign rs756986120 GRCh38 Chromosome 16, 69339541: 69339541
11 COG8 NM_032382.4(COG8): c.12G> T (p.Ala4=) single nucleotide variant Likely benign rs756986120 GRCh37 Chromosome 16, 69373444: 69373444

Expression for Congenital Disorder of Glycosylation, Type Iih

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

Pathways for Congenital Disorder of Glycosylation, Type Iih

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2
Show member pathways
13.59 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
3
Show member pathways
12.92 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
4
Show member pathways
12.38 COG1 COG6 COG7 COG8
5
Show member pathways
11.94 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
6
Show member pathways
11.6 DPM1 DPM2 PIGA
7 11.36 COG1 COG6 COG7 COG8
8 11.28 COG1 COG6 COG7 COG8
9
Show member pathways
11.09 DPM2 PIGA
10
Show member pathways
11.06 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

GO Terms for Congenital Disorder of Glycosylation, Type Iih

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

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.83 B4GALT1 COG1 COG6 COG7 COG8
2 endoplasmic reticulum GO:0005783 9.81 ALG1 ALG3 ALG6 ALG8 ALG9 DPM1
3 trans-Golgi network membrane GO:0032588 9.56 COG1 COG6 COG7 COG8
4 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.4 DPM2 PIGA
5 dolichol-phosphate-mannose synthase complex GO:0033185 9.37 DPM1 DPM2
6 endoplasmic reticulum membrane GO:0005789 9.32 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
7 Golgi transport complex GO:0017119 9.26 COG1 COG6 COG7 COG8
8 membrane GO:0016020 10.2 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.76 COG1 COG6 COG7 COG8
2 protein glycosylation GO:0006486 9.73 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
3 protein N-linked glycosylation GO:0006487 9.67 ALG6 ALG8 B4GALT1 PMM2
4 mannosylation GO:0097502 9.63 ALG1 ALG2 ALG3 ALG8 ALG9 DPM1
5 intra-Golgi vesicle-mediated transport GO:0006891 9.61 COG1 COG6 COG8
6 GPI anchor biosynthetic process GO:0006506 9.58 DPM1 DPM2 PIGA
7 dolichol metabolic process GO:0019348 9.5 DPM1 DPM2 SRD5A3
8 preassembly of GPI anchor in ER membrane GO:0016254 9.49 DPM2 PIGA
9 protein O-linked mannosylation GO:0035269 9.48 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 Iih according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.81 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
2 transferase activity, transferring hexosyl groups GO:0016758 9.46 ALG6 ALG8
3 enzyme regulator activity GO:0030234 9.43 APOC3 DPM2
4 mannosyltransferase activity GO:0000030 9.4 ALG1 ALG9
5 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 9.37 ALG6 ALG8
6 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 9.32 DPM1 DPM2
7 transferase activity, transferring glycosyl groups GO:0016757 9.28 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9
8 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 9.26 ALG6 ALG8
9 alpha-1,3-mannosyltransferase activity GO:0000033 9.13 ALG2 ALG3 ALG8

Sources for Congenital Disorder of Glycosylation, Type Iih

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
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