CBG DEFICIENCY
MCID: CRT046
MIFTS: 39

Corticosteroid-Binding Globulin Deficiency (CBG DEFICIENCY)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corticosteroid-Binding Globulin Deficiency

MalaCards integrated aliases for Corticosteroid-Binding Globulin Deficiency:

Name: Corticosteroid-Binding Globulin Deficiency 57 12 20 43 58 72 29 13 6 15 39 70
Transcortin Deficiency 57 12 20 43 58
Cbg Deficiency 57 12 20 43 72
Corticosteroid-Binding Globulin Deficiency 36

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:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0090030
OMIM® 57 611489
KEGG 36 H01163
ICD10 32 E27.8
ICD10 via Orphanet 33 E27.8
UMLS via Orphanet 71 C1852529
Orphanet 58 ORPHA199247
UMLS 70 C1852529

Summaries for Corticosteroid-Binding Globulin Deficiency

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

Related Diseases for Corticosteroid-Binding Globulin Deficiency

Diseases related to Corticosteroid-Binding Globulin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 chronic fatigue syndrome 30.0 SERPINA6 POMC NR3C1
2 alzheimer disease 16 10.1 POMC NR3C1
3 ectopic cushing syndrome 10.1 POMC NR3C1
4 ovarian serous adenofibroma 10.1 POMC NR3C1
5 pituitary-dependent cushing's disease 10.1 POMC NR3C1
6 atypical depressive disorder 10.1 POMC NR3C1
7 nelson syndrome 10.1 POMC NR3C1
8 abnormality of glucagon secretion 10.1 SERPINA7 NR3C1
9 subacute thyroiditis 10.1 SERPINA7 SERPINA6
10 postpartum depression 10.1 POMC NR3C1
11 thyroid crisis 10.1 SERPINA7 POMC
12 apparent mineralocorticoid excess 10.0 NR3C1 HSD11B2
13 proteasome-associated autoinflammatory syndrome 1 10.0
14 hyperinsulinism 10.0
15 graves disease 1 10.0 SERPINA7 POMC
16 euthyroid sick syndrome 10.0 SERPINA7 POMC
17 myxedema 10.0 SERPINA7 POMC
18 cortisone reductase deficiency 10.0 POMC HSD11B2
19 waterhouse-friderichsen syndrome 10.0 POMC MC2R
20 adrenal rest tumor 10.0 POMC MC2R
21 glucocorticoid deficiency 1 10.0 POMC MC2R
22 adrenal cortical hypofunction 10.0 POMC MC2R
23 persistent fetal circulation syndrome 10.0 POMC HSD11B2
24 adrenal hypoplasia, congenital 10.0 POMC MC2R
25 acth-independent macronodular adrenal hyperplasia 10.0 POMC MC2R
26 adrenal cortex disease 9.9 POMC MC2R
27 adrenal cortical adenoma 9.9 POMC MC2R
28 hypoadrenocorticism, familial 9.9 POMC MC2R
29 achalasia-addisonianism-alacrima syndrome 9.9 POMC MC2R
30 liddle syndrome 1 9.9 NR3C1 HSD11B2
31 hyperthyroidism 9.9 SERPINA7 SERPINA6 POMC
32 phobic disorder 9.9 POMC FKBP5
33 borderline personality disorder 9.9 NR3C1 FKBP5
34 carney complex variant 9.9 POMC MC2R
35 adult syndrome 9.9 POMC NR3C1 HSD11B2
36 personality disorder 9.9 NR3C1 FKBP5
37 hypokalemia 9.8 POMC NR3C1 HSD11B2
38 lipoid congenital adrenal hyperplasia 9.8 POMC MC2R
39 acth-secreting pituitary adenoma 9.8 POMC NR3C1 MC2R
40 primary pigmented nodular adrenocortical disease 9.8 POMC NR3C1 MC2R
41 familial glucocorticoid deficiency 9.8 POMC MC2R
42 thyroid gland disease 9.8 SERPINA7 POMC
43 steroid inherited metabolic disorder 9.7 POMC MC2R HSD11B2
44 adrenal adenoma 9.7 POMC MC2R HSD11B2
45 ocular hypertension 9.7 SERPINA6 NR3C1 FKBP5
46 pseudohermaphroditism 9.7 POMC NR3C1
47 adrenal cortical carcinoma 9.7 POMC MC2R HSD11B2
48 acute stress disorder 9.7 POMC NR3C1 FKBP5
49 endogenous depression 9.7 POMC NR3C1 FKBP5
50 mental depression 9.7 POMC NR3C1 FKBP5

Graphical network of the top 20 diseases related to Corticosteroid-Binding Globulin Deficiency:



Diseases related to Corticosteroid-Binding Globulin Deficiency

Symptoms & Phenotypes for Corticosteroid-Binding Globulin Deficiency

Human phenotypes related to Corticosteroid-Binding Globulin Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 hypotension 31 HP:0002615
2 hypertension 31 HP:0000822
3 fatigue 31 HP:0012378
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 increased muscle fatiguability 31 HP:0003750

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypotension
hypertension

Laboratory Abnormalities:
decreased serum cortisol
decreased cortisol-binding globulin
normal free urinary cortisol
normal acth

Metabolic Features:
generalized fatigue

Muscle Soft Tissue:
muscle fatigue

Clinical features from OMIM®:

611489 (Updated 05-Apr-2021)

UMLS symptoms related to Corticosteroid-Binding Globulin Deficiency:


fatigue; generalized fatigue

GenomeRNAi Phenotypes related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.92 HSD11B2 MC2R NR3C1 POMC

MGI Mouse Phenotypes related to Corticosteroid-Binding Globulin Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 FKBP5 HSD11B2 MC2R NR3C1 POMC SERPINA6
2 renal/urinary system MP:0005367 9.02 FKBP5 HSD11B2 NR3C1 POMC SERPINA6

Drugs & Therapeutics for Corticosteroid-Binding Globulin Deficiency

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

Genetic Tests for Corticosteroid-Binding Globulin Deficiency

Genetic tests related to Corticosteroid-Binding Globulin Deficiency:

# Genetic test Affiliating Genes
1 Corticosteroid-Binding Globulin Deficiency 29 SERPINA6

Anatomical Context for Corticosteroid-Binding Globulin Deficiency

MalaCards organs/tissues related to Corticosteroid-Binding Globulin Deficiency:

40
Adrenal Gland, Liver

Publications for Corticosteroid-Binding Globulin Deficiency

Articles related to Corticosteroid-Binding Globulin Deficiency:

(show all 15)
# Title Authors PMID Year
1
Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. 61 6 57
17245537 2007
2
Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension. 61 57 6
11502797 2001
3
Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. 57 6
10634411 2000
4
Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. 57 6
8212073 1993
5
Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity. 57 6
7061486 1982
6
Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. 61 6
12780753 2003
7
Marked elevation and cyclic variation of corticosteroid-binding globulin: an inherited abnormality? 57
2493032 1989
8
Idiopathic or genetic elevation of corticosteroid-binding globulin? 57
4969809 1968
9
FAMILIAL DECREASE IN CORTICOSTEROID-BINDING GLOBULIN. 57
14320983 1965
10
Corticosteroid-Binding Globulin Deficiency Specifically Impairs Contextual and Recognition Memory Consolidation in Male Mice. 61
30904918 2019
11
Impact of corticosteroid-binding globulin deficiency on pregnancy and neonatal sex. 61
25695888 2015
12
Plasma transcortin influences endocrine and behavioral stress responses in mice. 61
20022933 2010
13
Greater replication and differentiation of preadipocytes in inherited corticosteroid-binding globulin deficiency. 61
12554596 2003
14
A case of cyclical Cushing's disease associated with corticosteroid-binding globulin deficiency: a rare pitfall in the diagnosis of Cushing's disease. 61
7581948 1995
15
Haplotypes in transcortin deficiency. 61
3742837 1986

Variations for Corticosteroid-Binding Globulin Deficiency

ClinVar genetic disease variations for Corticosteroid-Binding Globulin Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINA6 SERPINA6, 121G-A SNV Pathogenic 16976 GRCh37:
GRCh38:
2 SERPINA6 NM_001756.4(SERPINA6):c.344T>A (p.Leu115His) SNV Pathogenic 16974 rs113418909 GRCh37: 14:94780642-94780642
GRCh38: 14:94314305-94314305
3 SERPINA6 NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) SNV Uncertain significance 16975 rs28929488 GRCh37: 14:94770808-94770808
GRCh38: 14:94304471-94304471
4 SERPINA6 NM_001756.4(SERPINA6):c.539G>A (p.Gly180Glu) SNV Uncertain significance 1029528 GRCh37: 14:94780447-94780447
GRCh38: 14:94314110-94314110

UniProtKB/Swiss-Prot genetic disease variations for Corticosteroid-Binding Globulin Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 SERPINA6 p.Leu115His VAR_007111 rs113418909
2 SERPINA6 p.Asp389Asn VAR_016223 rs28929488

Expression for Corticosteroid-Binding Globulin Deficiency

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

Pathways for Corticosteroid-Binding Globulin Deficiency

GO Terms for Corticosteroid-Binding Globulin Deficiency

Biological processes related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuropeptide signaling pathway GO:0007218 8.96 POMC MC2R
2 glucocorticoid metabolic process GO:0008211 8.62 SERPINA6 HSD11B2

Molecular functions related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 8.96 SERPINA7 SERPINA6
2 steroid binding GO:0005496 8.8 SERPINA6 NR3C1 HSD11B2

Sources for Corticosteroid-Binding Globulin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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