MCID: CNG203
MIFTS: 22

Congenital Disorder of Glycosylation, Type Iii

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 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 2i 59 29 6
Cdg2i 57 59 75
Congenital Disorder of Glycosylation Type Iii 59 75
Cdgiii 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iii 59
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

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
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 2i, is related to cog5-congenital disorder of glycosylation. An important gene associated with Congenital Disorder of Glycosylation, Type Iii is COG5 (Component Of Oligomeric Golgi Complex 5). Related phenotypes are intellectual disability and muscular hypotonia

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

# Related Disease Score Top Affiliating Genes
1 cog5-congenital disorder of glycosylation 11.8

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 cerebellar atrophy 32 HP:0001272
4 truncal ataxia 32 HP:0002078
5 type i transferrin isoform profile 32 HP:0003642
6 atrophy/degeneration affecting the brainstem 32 HP:0007366

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

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 27)
# 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 GRCh37 Chromosome 7, 106924076: 106924076
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.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.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh38 Chromosome 7, 107563847: 107563847
25 COG5 NM_006348.3(COG5): c.143G> T (p.Gly48Val) single nucleotide variant Likely benign rs139763861 GRCh37 Chromosome 7, 107204292: 107204292
26 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh38 Chromosome 7, 107548327: 107548327
27 COG5 NM_006348.3(COG5): c.391C> T (p.Leu131Phe) single nucleotide variant Uncertain significance rs150351852 GRCh37 Chromosome 7, 107188772: 107188772

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

Sources for Congenital Disorder of Glycosylation, Type Iii

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