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