ALG9-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG-IL
CDG1L
Congenital disorder of glycosylation type IL
Mannosyltransferase 7-9 deficiency
Carbohydrate deficient glycoprotein syndrome type IL
CDGIl
CDG syndrome type IL
Congenital disorder of glycosylation type 1L
CDG Il
Number of Symptoms 4
OrphanetNr: 79328
OMIM Id: 608776
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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 hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
2
 (HPO:0001399) Hepatic failure Very frequent [Orphanet] 80 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065).
Clinical Description OMIM Frank et al. (2004) described a patient with a novel type of CDG I. Clinical features included severe macrocephaly, central hypotonia, seizures, hepatomegaly, developmental delay, and bronchial asthma. The lipid-linked oligosaccharide (LLO) profile showed dual accumulation of DolPP-GlcNAc(2)Man(6) ...
Molecular genetics OMIM In a patient with type I CDG, Frank et al. (2004) detected a homozygous mutation in the ALG9 gene (E523K; 606941.0001). Analysis of the mutant human cDNA in a yeast complementation assay demonstrated a detrimental effect of the ...