corticosteroid-binding globulin deficiency

Term ID

DOID:0090030

Synonyms

• CBG deficiency
• transcortin deficiency

Definition

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. (2)

References

• GARD:13101
• ICD10CM:E27.8
• MESH:C565152
• OMIM:611489
• ORDO:199247

Ontology

Human Disease   ( DOID:0090030 )