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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
COG4-CDG
COG7-CDG

COG4 COG7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COG4
(0.89)
COG7



Citations in the biomedical literature:


COG4-CDG
COG4
COG7-CDG
COG7



COG4-CDG
COG7-CDG

Synonym(s):
- CDG syndrome type IIj
- CDG-IIj
- CDG2J
- Carbohydrate deficient glycoprotein syndrome type IIj
- Congenital disorder of glycosylation type IIj

Synonym(s):
- CDG syndrome type IIe
- CDG-IIe
- CDG2E
- Carbohydrate deficient glycoprotein syndrome type IIe
- Congenital disorder of glycosylation type 2e
- Congenital disorder of glycosylation type IIe

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
- Rare surgical cardiac disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

COG7-CDG

Very frequent
- Cardiomyopathy / hypertrophic / dilated
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections



COG4-CDG

(no data available)