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Corticosteroid-binding globulin deficiency
Disease definition
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
ORPHA:199247
Classification level: Disorder- Synonym(s):
- Transcortin deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Semi-dominant
- Age of onset: -
- ICD-10: E27.8
- OMIM: 611489
- UMLS: C1852529
- MeSH: -
- GARD: -
- MedDRA: -
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