Corticosteroid-binding globulin deficiency

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Corticosteroid-binding globulin deficiency

ORPHA:199247Disease

Also called Transcortin deficiency

What it is

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.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Adult
Inheritance
Semi-dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

SERPINA6Disease-causing germline mutation(s)

ICD-10 codes

E27.8filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 13101MESH C565152MONDO 0012675OMIM 611489UMLS C1852529

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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