Corticosteroid-Binding Globulin Deficiency

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OMIM 57 611489 Disease Ontology 12 DOID:0090030 ICD10 33 E27.8 Orphanet 59 ORPHA199247 UMLS via Orphanet 74 C1852529

ICD10 via Orphanet 34 E27.8 MedGen 42 C1852529 C1969107 KEGG 37 H01163 SNOMED-CT via HPO 69 263681008 258211005 24184005 38341003 45007003 80449002 more UMLS 73 C1852529

NIH Rare Diseases : ⁵³ 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 subacute thyroiditis and acth-secreting pituitary adenoma, 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 Development_Leptin signaling via JAK/STAT and MAPK cascades and Glucocorticoid receptor regulatory network. Affiliated tissues include liver and adrenal gland, and related phenotypes are hypertension 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.

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Description from OMIM: 611489

Clinical features from OMIM:

611489

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.1	A2M ALB HSD11B2 NR3C1 POMC PPARG

Search Clinical Trials , NIH Clinical Center for Corticosteroid-Binding Globulin Deficiency

Search GEO for disease gene expression data for Corticosteroid-Binding Globulin Deficiency.