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CBG DEFICIENCY
MCID: CRT046
MIFTS: 39
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Corticosteroid-Binding Globulin Deficiency (CBG DEFICIENCY)
Categories:
Endocrine diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Corticosteroid-Binding Globulin Deficiency:
Characteristics:Orphanet epidemiological data:58
corticosteroid-binding globulin deficiency
Inheritance: Semi-dominant; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
variable phenotype many patients are asymptomatic HPO:31
corticosteroid-binding globulin deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
ICD10:
32
33
Orphanet: 58
Rare endocrine diseases |
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GARD :
20
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 alzheimer disease 16, 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 Diseases of metabolism and Metabolism of steroid hormones. Affiliated tissues include adrenal gland and liver, and related phenotypes are hypotension and hypertension 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. MedlinePlus Genetics : 43 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 : 72 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. Wikipedia : 73 Transcortin, also known as corticosteroid-binding globulin (CBG) or serpin A6, is a protein produced in... more...
More information from OMIM:
611489
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Human phenotypes related to Corticosteroid-Binding Globulin Deficiency:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:611489 (Updated 05-Apr-2021)UMLS symptoms related to Corticosteroid-Binding Globulin Deficiency:fatigue; generalized fatigue |
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MalaCards organs/tissues related to Corticosteroid-Binding Globulin Deficiency:40
Adrenal Gland,
Liver
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Articles related to Corticosteroid-Binding Globulin Deficiency:(show all 15)
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Genes related to Corticosteroid-Binding Globulin Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Corticosteroid-Binding Globulin Deficiency:6
UniProtKB/Swiss-Prot genetic disease variations for Corticosteroid-Binding Globulin Deficiency:72
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Search
GEO
for disease gene expression data for Corticosteroid-Binding Globulin Deficiency.
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Biological processes related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:
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