MCID: CNG204
MIFTS: 30

Congenital Disorder of Glycosylation, Type Iih

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver 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 Iih

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

Name: Congenital Disorder of Glycosylation, Type Iih 57 13 73
Congenital Disorder of Glycosylation Type 2h 59 29 6
Cdg2h 57 59 75
Congenital Disorder of Glycosylation Type Iih 59 75
Cdg Iih 57 75
Cdg-Iih 59 75
Cdgiih 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iih 59
Glycosylation, Congenital Disorder of, Type Iih 40
Congenital Disorder of Glycosylation 2h 75
Cdg Syndrome Type Iih 59
Cdg Iih; Cdgiih 57
Cog8-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
cog8-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

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


Classifications:



External Ids:

OMIM 57 611182
Orphanet 59 ORPHA95428
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 74 C1970021
MedGen 42 C1970021
MeSH 44 D018981
UMLS 73 C1970021

Summaries for Congenital Disorder of Glycosylation, Type Iih

UniProtKB/Swiss-Prot : 75 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 2h, is related to congenital disorder of glycosylation, type in. 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 Golgi-to-ER retrograde transport and Retrograde transport at the Trans-Golgi-Network. Related phenotypes are alternating esotropia and intellectual disability

Description from OMIM: 611182

Related Diseases for Congenital Disorder of Glycosylation, Type Iih

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

Diseases related to Congenital Disorder of Glycosylation, Type Iih via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iih

Clinical features from OMIM:

611182

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 alternating esotropia 32 HP:0001137
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 cerebellar atrophy 32 HP:0001272
5 encephalopathy 32 HP:0001298
6 ventriculomegaly 32 HP:0002119
7 status epilepticus 32 HP:0002133
8 elevated serum creatine phosphokinase 32 HP:0003236
9 elevated serum transaminases during infections 32 HP:0008150

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 29 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
# 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 COG8, 2-BP DEL, 1687TT deletion Pathogenic
5 COG8 NM_032382.4(COG8): c.1589C> T (p.Pro530Leu) single nucleotide variant Benign rs114861924 GRCh37 Chromosome 16, 69364992: 69364992
6 COG8 NM_032382.4(COG8): c.1589C> T (p.Pro530Leu) single nucleotide variant Benign rs114861924 GRCh38 Chromosome 16, 69331089: 69331089
7 COG8 NM_032382.4(COG8): c.525G> A (p.Leu175=) single nucleotide variant Likely benign rs187905134 GRCh38 Chromosome 16, 69336565: 69336565
8 COG8 NM_032382.4(COG8): c.525G> A (p.Leu175=) single nucleotide variant Likely benign rs187905134 GRCh37 Chromosome 16, 69370468: 69370468
9 COG8 NM_032382.4(COG8): c.12G> T (p.Ala4=) single nucleotide variant Likely benign rs756986120 GRCh38 Chromosome 16, 69339541: 69339541
10 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
11.78 COG6 COG8
2 10.65 COG6 COG8
3 10.28 COG6 COG8

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 apparatus GO:0005794 9.33 COG6 COG8 ENSG00000272617
2 Golgi membrane GO:0000139 9.26 COG6 COG8
3 trans-Golgi network membrane GO:0032588 9.13 COG6 COG8 ENSG00000272617
4 Golgi transport complex GO:0017119 8.8 COG6 COG8 ENSG00000272617

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 COG6 COG8 ENSG00000272617
2 ER to Golgi vesicle-mediated transport GO:0006888 9.13 COG6 COG8 ENSG00000272617
3 intra-Golgi vesicle-mediated transport GO:0006891 8.8 COG6 COG8 ENSG00000272617

Sources for Congenital Disorder of Glycosylation, Type Iih

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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