Corticosteroid-Binding Globulin Deficiency (CBG DEFICIENCY)

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Disease Ontology 12 DOID:0090030 OMIM 56 611489 KEGG 36 H01163 ICD10 32 E27.8 ICD10 via Orphanet 33 E27.8

UMLS via Orphanet 72 C1852529 Orphanet 58 ORPHA199247 MedGen 41 C1852529 C1969107 SNOMED-CT via HPO 68 24184005 248274002 258211005 263681008 38341003 45007003 80449002 84229001 more UMLS 71 C1852529

NIH Rare Diseases : ⁵² 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.

MalaCards based summary : Corticosteroid-Binding Globulin Deficiency, also known as transcortin deficiency, is related to chronic fatigue syndrome and body mass index quantitative trait locus 11, and has symptoms including fatigue and generalized fatigue. An important gene associated with Corticosteroid-Binding Globulin Deficiency is SERPINA6 (Serpin Family A Member 6), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Diseases of metabolism. Affiliated tissues include liver and adrenal gland, and related phenotypes are fatigue and abnormality of metabolism/homeostasis

Disease Ontology : ¹² 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.

Genetics Home Reference : ²⁵ 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. Many 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. Some people with corticosteroid-binding globulin deficiency also have a condition called chronic fatigue syndrome. The features of chronic fatigue syndrome are prolonged fatigue that interferes with daily activities, as well as general symptoms, such as sore throat or headaches.

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷³ Corticosteroid-binding globulin deficiency: Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue.

More information from OMIM: 611489

Clinical features from OMIM:

611489

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	8.92	MC2R NR3C1 POMC STAR

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