DDOST-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG1R
Congenital disorder of glycosylation type Ir
Congenital disorder of glycosylation type 1r
CDG-Ir
Carbohydrate deficient glycoprotein syndrome type Ir
CDG syndrome type Ir
Number of Symptoms 18
OrphanetNr: 300536
OMIM Id: 614507
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Disorder of protein N-glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus 576 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0002019) Constipation 194 / 7739
4
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
5
 (HPO:0001410) Decreased liver function 59 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0003642) Type I transferrin isoform profile 16 / 7739
8
 (HPO:0001252) Muscular hypotonia 990 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (HPO:0010547) Muscle flaccidity 466 / 7739
11
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
 (OMIM) Lack of speech development 20 / 7739
13
 (OMIM) Disordered myelination 1 / 7739
14
 (HPO:0003593) Infantile onset 249 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Deficiency of coagulation factors 1 / 7739
17
 (OMIM) Oromotor dysfunction 1 / 7739
18
 (OMIM) Recurrent ear infections 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jones et al. (2012) reported a 6-month-old boy of European descent who presented with failure to thrive, gastroesophageal reflux, developmental delay, ear infections, and oromotor dysfunction. At age 1 year, he showed hypotonia, external strabismus, mild to moderate ...
Molecular genetics OMIM By whole-exome sequencing of a European boy with type 1 CDG, Jones et al. (2012) identified compound heterozygosity for 2 mutations in the DDOST gene (602202.0001 and 602202.0002). Immunoblot analysis of patient fibroblasts showed a 50% reduction in ...