CDGIC
MCID: ALG024
MIFTS: 13

Alg6-Congenital Disorder of Glycosylation (CDGIC)

Categories: Blood diseases

Aliases & Classifications for Alg6-Congenital Disorder of Glycosylation

MalaCards integrated aliases for Alg6-Congenital Disorder of Glycosylation:

Name: Alg6-Congenital Disorder of Glycosylation 25
Carbohydrate-Deficient Glycoprotein Syndrome Type Ic 25
Carbohydrate-Deficient Glycoprotein Syndrome Type V 25
Congenital Disorder of Glycosylation Type Ic 25
Congenital Disorder of Glycosylation Type 1c 71
Glucosyltransferase 1 Deficiency 25
Cdg Syndrome Type Ic 25
Cdg1c 25
Cdgic 25

Classifications:



External Ids:

UMLS 71 C2930997

Summaries for Alg6-Congenital Disorder of Glycosylation

Genetics Home Reference : 25 ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. ALG6 ALG6 ALG6 Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay. ALG6 People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty. ALG6 ALG6 ALG6 ALG6

MalaCards based summary : Alg6-Congenital Disorder of Glycosylation, also known as carbohydrate-deficient glycoprotein syndrome type ic, is related to congenital disorder of glycosylation, type ic and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including seizures and ataxia. Affiliated tissues include eye.

Related Diseases for Alg6-Congenital Disorder of Glycosylation

Diseases related to Alg6-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 ic 11.6
2 congenital disorders of n-linked glycosylation and multiple pathway 10.2
3 hypotonia 10.2
4 congenital disorder of glycosylation, type in 10.2
5 strabismus 10.1
6 ataxia and polyneuropathy, adult-onset 10.1
7 cerebellar hypoplasia 10.1
8 mechanical strabismus 10.1

Graphical network of the top 20 diseases related to Alg6-Congenital Disorder of Glycosylation:



Diseases related to Alg6-Congenital Disorder of Glycosylation

Symptoms & Phenotypes for Alg6-Congenital Disorder of Glycosylation

UMLS symptoms related to Alg6-Congenital Disorder of Glycosylation:


seizures, ataxia

Drugs & Therapeutics for Alg6-Congenital Disorder of Glycosylation

Search Clinical Trials , NIH Clinical Center for Alg6-Congenital Disorder of Glycosylation

Genetic Tests for Alg6-Congenital Disorder of Glycosylation

Anatomical Context for Alg6-Congenital Disorder of Glycosylation

MalaCards organs/tissues related to Alg6-Congenital Disorder of Glycosylation:

40
Eye

Publications for Alg6-Congenital Disorder of Glycosylation

Articles related to Alg6-Congenital Disorder of Glycosylation:

# Title Authors PMID Year
1
Congenital disorder of glycosylation type Ic: report of a Japanese case. 61
23044053 2013
2
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). 61
21334936 2011
3
Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population. 61
21437994 2011
4
Congenital disorder of glycosylation Ic in patients of Indian origin. 61
12855228 2003
5
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. 61
11558905 2001
6
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. 61
10852543 2000

Variations for Alg6-Congenital Disorder of Glycosylation

Expression for Alg6-Congenital Disorder of Glycosylation

Search GEO for disease gene expression data for Alg6-Congenital Disorder of Glycosylation.

Pathways for Alg6-Congenital Disorder of Glycosylation

GO Terms for Alg6-Congenital Disorder of Glycosylation

Sources for Alg6-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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