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corticosteroid-binding globulin deficiency (CBG deficiency)
Epidemiology: rare
Pathology:
- reduced corticosteroid-binding capacity
- normal or low plasma corticosteroid-binding globulin concentration
Genetics:
- associated with defects in SERPINA6 (CBG)
Laboratory:
- serum corticosteroid-binding globulin is low or normal
- serum cortisol (unstimulated) is norml
Clinical manifestations:
- hypertension, hypotension
- muscle fatigue
General
inborn error of metabolism
Database Correlations
OMIM 611489
References
OMIM :accession 611489