ALG2-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1I
CDG-Ii
Carbohydrate deficient glycoprotein syndrome Ii
CDG syndrome type Ii
CDG Ii
CDGIi
Congenital disorder of glycosylation 1i
Mannosyltransferase 2 deficiency
Congenital disorder of glycosylation Ii
Number of Symptoms 13
OrphanetNr: 79326
OMIM Id: 607906
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 case [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 hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Disorder of protein N-glycosylation
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
4
 (HPO:0000589) Coloboma 47 / 7739
5
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
6
 (HPO:0002521) Hypsarrhythmia 43 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002240) Hepatomegaly 467 / 7739
12
 (HPO:0001928) Abnormality of coagulation 44 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thiel et al. (2003) described a molecular defect in glycoprotein biosynthesis that affects, at the cytosolic side of the endoplasmic reticulum (ER), the transfer of mannosyl residues from GDP-Man to Man(1)GlcNAc(2)-PP-dolichol by the enzyme ALG2. They designated this ...
Molecular genetics OMIM In a patient with CDG Ii, Thiel et al. (2003) identified heterozygosity for a 1-bp deletion (607905.0001) and a 1-bp substitution (607905.0002) in the ALG2 gene. Expression of wildtype but not of mutant ALG2 cDNA restored the mannosyltransferase ...