ALG6-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY
CDGS5, FORMERLY
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY
CDG1C
Glucosyltransferase 1 deficiency
CDG Ic
Congenital disorder of glycosylation type Ic
Congenital disorder of glycosylation type 1c
CDG-Ic
Carbohydrate deficient glycoprotein syndrome type Ic
CDG syndrome type Ic
CDGIc
Number of Symptoms 18
OrphanetNr: 79320
OMIM Id: 603147
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 58 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with epilepsy as a major feature
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with intestinal involvement
 -Rare gastroenterologic disease
 -Rare genetic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus 576 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
7
 (HPO:0008150) Elevated serum transaminases during infections 2 / 7739
8
 (HPO:0001976) Reduced antithrombin III activity 10 / 7739
9
 (HPO:0001929) Reduced factor XI activity 7 / 7739
10
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
11
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
12
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (MedDRA:10037005) Protein C decreased 2 / 7739
15
 (OMIM) Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase deficiency 1 / 7739
16
 (OMIM) Decreased serum cholesterol 6 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (OMIM) Decreased factor XI 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are caused by defects in mannose addition during N-linked oligosaccharide assembly. CDGs can be divided into 2 types, depending on whether they impair lipid-linked oligosaccharide (LLO) assembly and ...
Clinical Description OMIM Burda et al. (1998) reported 4 related patients from a consanguineous Dutch family with type I CDG. There were 3 girls and 1 boy, aged 3 to 7 years. The most striking feature of the patients was a ...
Molecular genetics OMIM Imbach et al. (1999) showed that all 4 of the patients described by Burda et al. (1998) had the same homozygous ala333-to-val point mutation (A333V; 604566.0001) in the human ortholog of the S. cerevisiae gene ALG6.

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