Details of Disease

General Information of Disease (ID: DISYKJVZ)

• Disease Name: Corticosteroid-binding globulin deficiency
• Synonyms: Cbg deficiency; corticosteroid-binding globulin, elevated; corticosteroid-binding globulin deficiency; CBG deficiency; transcortin deficiency; Transcortin deficiency
• Definition: Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISFS818: Adrenal gland disorder
  DISYKJVZ: Corticosteroid-binding globulin deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012675
  MESH ID: C565152
  UMLS CUI: C1852529
  OMIM ID: 611489
  MedGen ID: 343831
  Orphanet ID: 199247
  SNOMED CT ID: 773728004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MC2R	TTPWFDX	Disputed	Altered Expression	[1]
SERPINA6	TTJL8VG	Strong	Autosomal recessive	[2]
SERPINA6	TTJL8VG	Definitive	Altered Expression	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINA6	OTOIBEW7	Strong	Autosomal recessive	[2]

References

• [1] Corticosteroid-Binding Globulin is expressed in the adrenal gland and its absence impairs corticosterone synthesis and secretion in a sex-dependent manner.Sci Rep. 2019 Sep 30;9(1):14018. doi: 10.1038/s41598-019-50355-1.
• [2] Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension. J Clin Endocrinol Metab. 2001 Aug;86(8):3692-700. doi: 10.1210/jcem.86.8.7724.