KEGG   DISEASE: Corticosteroid-binding globulin (CBG) deficiencyHelp
Entry
H01163                      Disease                                

Name
Corticosteroid-binding globulin (CBG) deficiency
Description
Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only a few causative genetic variants in human CBG (SERPINA6) gene have been described.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01163  Corticosteroid-binding globulin (CBG) deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A76  Certain specified disorders of adrenal gland
     H01163  Corticosteroid-binding globulin (CBG) deficiency
BRITE hierarchy
Network
N00314  Mutation-inactivated CBG to transport of cortisol
Gene
SERPINA6 [HSA:866] [KO:K04525]
Other DBs
ICD-11: 5A76.Y
ICD-10: E27.8
MeSH: C565152
OMIM: 611489
Reference
  Authors
Perogamvros I, Underhill C, Henley DE, Hadfield KD, Newman WG, Ray DW, Lightman SL, Hammond GL, Trainer PJ
  Title
Novel corticosteroid-binding globulin variant that lacks steroid binding activity.
  Journal
J Clin Endocrinol Metab 95:E142-50 (2010)
DOI:10.1210/jc.2010-0746
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