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COG5-CDG
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Intermittent hydrarthrosis
2 associated genes
No signs/symptoms info
COG5-CDG
Intermittent hydrarthrosis

COG5
(UniProt - OMIM)
 MEFV
(UniProt - OMIM)
TNFRSF1A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COG5
(0.63)
MEFV


Citations in the biomedical literature:


COG5-CDG
COG5
Intermittent hydrarthrosis
MEFV TNFRSF1A



COG5-CDG
Intermittent hydrarthrosis

Synonym(s):
- CDG syndrome type IIi
- CDG-IIi
- CDG2I
- Carbohydrate deficient glycoprotein syndrome type IIi
- Congenital disorder of glycosylation type IIi
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.