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corticosteroid-binding globulin deficiency
Summary
- Synonym
-
- 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.
- Super Class
- adrenal gland disease monogenic disease
External Links
- Disease Ontology
- DOID:0090030
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
