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COG7-CDG
1 OMIM reference -
1 associated gene
7 connected diseases
3 signs/symptoms
Disease Type of connection
COG4-CDG
COG5-CDG
COG8-CDG
Giant cell glioblastoma
Gliosarcoma
COG1-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
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 developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
- Rare surgical cardiac disease

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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
COG7 P83436606978
Very frequent
- Cardiomyopathy / hypertrophic / dilated
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections