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COG1-CDG
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
COG4-CDG
Giant cell glioblastoma
Gliosarcoma
COG5-CDG
COG7-CDG
COG8-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonym(s):
- CDG syndrome type IIg
- CDG-IIg
- CDG2G
- Carbohydrate deficient glycoprotein syndrome type IIg
- Congenital disorder of glycosylation type IIg
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COG1 Q8WTW3606973
No signs/symptoms info available.