MCID: CG5002
MIFTS: 9

Cog5-Congenital Disorder of Glycosylation

Categories: Neuronal diseases

Aliases & Classifications for Cog5-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Cog5-Congenital Disorder of Glycosylation:

Name: Cog5-Congenital Disorder of Glycosylation 25
Carbohydrate Deficient Glycoprotein Syndrome Type Iii 25
Congenital Disorder of Glycosylation, Type I-Iix 71
Congenital Disorder of Glycosylation, Type Iii 71
Congenital Disorder of Glycosylation Type Iii 25
Cdgiii 25
Cdg2i 25

Classifications:



External Ids:

UMLS 71 C0349655 C3150876

Summaries for Cog5-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms vary among affected individuals. COG5 COG5 Individuals with COG5-CDG typically develop signs and symptoms of the condition during infancy. These individuals often have weak muscle tone (hypotonia) and delayed development. Other neurological features include moderate to severe intellectual disability, poor coordination, and difficulty walking. Some affected individuals never learn to speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), and distinctive facial features, which can include ears that are set low and rotated backward, a short neck with a low hairline in the back, and a prominent nose. Less commonly, affected individuals can have hearing loss caused by changes in the inner ear (sensorineural hearing loss), vision impairment, damage to the nerves that control bladder function (a condition called neurogenic bladder), liver disease, and joint deformities (contractures). COG5 COG5

MalaCards based summary : Cog5-Congenital Disorder of Glycosylation, also known as carbohydrate deficient glycoprotein syndrome type iii, is related to congenital disorder of glycosylation, type iii and syringomyelia, noncommunicating isolated. Affiliated tissues include liver.

Related Diseases for Cog5-Congenital Disorder of Glycosylation

Diseases related to Cog5-Congenital Disorder of Glycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iii 11.6
2 syringomyelia, noncommunicating isolated 10.1
3 syringomyelia 10.1
4 hypotonia 10.1
5 posttransplant acute limbic encephalitis 10.1

Graphical network of the top 20 diseases related to Cog5-Congenital Disorder of Glycosylation:



Diseases related to Cog5-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Cog5-Congenital Disorder of Glycosylation

Drugs & Therapeutics for Cog5-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Cog5-Congenital Disorder of Glycosylation

Genetic Tests for Cog5-Congenital Disorder of Glycosylation

Anatomical Context for Cog5-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Cog5-Congenital Disorder of Glycosylation:

40
Liver

Publications for Cog5-Congenital Disorder of Glycosylation

Articles related to Cog5-Congenital Disorder of Glycosylation:

# Title Authors PMID Year
1
A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III. 61
10401691 1999

Variations for Cog5-Congenital Disorder of Glycosylation

Expression for Cog5-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Cog5-Congenital Disorder of Glycosylation.

Pathways for Cog5-Congenital Disorder of Glycosylation

GO Terms for Cog5-Congenital Disorder of Glycosylation

Sources for Cog5-Congenital Disorder of Glycosylation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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