" /> Corticosteroid-binding globulin deficiency - CISMeF





Preferred Label : Corticosteroid-binding globulin deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cbg deficiency; Transcortin deficiency;

Included titles and symbols : Corticosteroid-binding globulin, elevated;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6, 122500.0001);

Laboratory abnormalities : Decreased serum cortisol; Decreased cortisol-binding globulin; Normal free urinary cortisol; Normal ACTH;

Prefixed ID : #611489;

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27/07/2025


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