Conditions / Genetic

corticosteroid-binding globulin deficiency

info · Genetic · ICD-10: E27.8

An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on

An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.

Signs and symptoms

  • Decreased circulating corticosteroid-binding globulin concentration
  • Decreased urinary potassium
  • Decreased circulating cortisol level
  • Anemia
  • Hypokalemia
  • Hypotension
  • Asthenia
  • Increased muscle fatiguability
  • Fatigue
  • Hypertension

Also known as: CBG deficiency; transcortin deficiency