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COG4-CDG
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
COG1-CDG
COG5-CDG
COG7-CDG
COG8-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
APC-related attenuated familial adenomatous polyposis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Cabezas syndrome
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Giant cell glioblastoma
Gliosarcoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Turcot syndrome with polyposis
Synonym(s):
- CDG syndrome type IIj
- CDG-IIj
- CDG2J
- Carbohydrate deficient glycoprotein syndrome type IIj
- Congenital disorder of glycosylation type IIj

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic 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
COG4 Q9H9E3606976
No signs/symptoms info available.