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GTR Home > Conditions/Phenotypes > Corticosteroid-binding globulin deficiency

Corticosteroid-binding globulin deficiency

Synonyms
CBG DEFICIENCY; TRANSCORTIN DEFICIENCY
Modes of inheritance
Semidominant inheritance (Orphanet)

Summary

Corticosteroid-binding globulin deficiency is a condition with subtle signs and symptoms, the most frequent being extreme tiredness (fatigue), especially after physical exertion. Many people with this condition have unusually low blood pressure (hypotension). Some affected individuals have a fatty liver or experience chronic pain, particularly in their muscles. These features vary among affected individuals, even those within the same family.\n\nMany people with corticosteroid-binding globulin deficiency have only one or two of these features; others have no signs and symptoms of the disorder and are only diagnosed after a relative is found to be affected.\n\nSome people with corticosteroid-binding globulin deficiency also have a condition called myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). The features of ME/CFS are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches. [from MedlinePlus Genetics]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CBG, SERPINA6
    Summary: serpin family A member 6

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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