Orphanet: Corticosteroid binding globulin deficiency
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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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