Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

corticosteroid-binding globulin deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

corticosteroid-binding globulin deficiency

MONDO:0012675

Also known as:CBG deficiencyTranscortin deficiencycorticosteroid-binding globulin, elevated

Overview

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.

GeneticsAutosomal recessive, Autosomal dominant · SERPINA6 (chr 14)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced circulating cortisol-binding globulin concentration, Decreased urinary potassium, Decreased circulating cortisol level, and Low red blood cell count (anemia) and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	2	Reduced circulating cortisol-binding globulin concentration, Decreased circulating cortisol level

Genetic Landscape

SERPINA6 function has not been fully characterized.

Corticosteroid-binding globulin deficiency is associated with mutations in the SERPINA6 gene on chromosome 14.

Diagnosis

Genetic testing for SERPINA6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for corticosteroid-binding globulin deficiency.

5 publications have been identified in PubMed for corticosteroid-binding globulin deficiency. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Lee JH (2026). [PMID: 41994485](https://pubmed.ncbi.nlm.nih.gov/41994485/). *J Endocr Soc*. [Epidemiology / Natural History]
Dermitzakis I (2025). [PMID: 40409475](https://pubmed.ncbi.nlm.nih.gov/40409475/). *Infect Genet Evol*. [Review / Meta-Analysis]
Boyle LD (2025). [PMID: 39788946](https://pubmed.ncbi.nlm.nih.gov/39788946/). *Nat Commun*. [Basic Science / Preclinical]
Jiang MR (2025). [PMID: 40365551](https://pubmed.ncbi.nlm.nih.gov/40365551/). *JCEM Case Rep*. [Case Report / Case Series]
Lee JH (2024). [PMID: 38941154](https://pubmed.ncbi.nlm.nih.gov/38941154/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611489

Orphanet

European rare disease database

Orphanet:199247

GARD

Genetic and Rare Diseases Info Center

GARD:13101

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

corticosteroid-binding globulin deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features