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COG5-CDG
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
COG4-CDG
COG7-CDG
APC-related attenuated familial adenomatous polyposis
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Behçet disease
Desmoid tumor
Familial Mediterranean fever
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
Intermittent hydrarthrosis
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Turcot syndrome with polyposis
COG1-CDG
COG8-CDG
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonym(s):
- CDG syndrome type IIi
- CDG-IIi
- CDG2I
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type IIi
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COG5 Q9UP83606821
No signs/symptoms info available.