MCID: CRT046
MIFTS: 43

Corticosteroid-Binding Globulin Deficiency

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Corticosteroid-Binding Globulin Deficiency

MalaCards integrated aliases for Corticosteroid-Binding Globulin Deficiency:

Name: Corticosteroid-Binding Globulin Deficiency 57 12 53 25 59 75 29 13 6 15 40 73
Transcortin Deficiency 57 12 53 25 59
Cbg Deficiency 57 12 53 25 75
Corticosteroid-Binding Globulin Deficiency 37
Corticosteroid-Binding Globulin 13

Characteristics:

Orphanet epidemiological data:

59
corticosteroid-binding globulin deficiency
Inheritance: Semi-dominant;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
variable phenotype
many patients are asymptomatic


HPO:

32
corticosteroid-binding globulin deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

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
KEGG 37 H01163
UMLS 73 C1852529

Summaries for Corticosteroid-Binding Globulin Deficiency

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

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 62)
# Related Disease Score Top Affiliating Genes
1 subacute thyroiditis 10.7 SERPINA6 SERPINA7
2 acth-secreting pituitary adenoma 10.7 NR3C1 POMC
3 steroid inherited metabolic disorder 10.6 HSD11B2 POMC
4 allergic urticaria 10.6 A2M NR3C1
5 adult syndrome 10.5 HSD11B2 NR3C1
6 persistent fetal circulation syndrome 10.5 HSD11B2 POMC
7 chromophobe adenoma 10.4 POMC SERPINA7
8 adrenal gland hyperfunction 10.4 NR3C1 POMC SERPINA6
9 congenital disorder of glycosylation, type ia 10.4 HP SERPINA7
10 hyperaldosteronism, familial, type i 10.4 HSD11B2 NR3C1 POMC
11 adrenal cortex disease 10.4 HSD11B2 NR3C1 POMC
12 apparent mineralocorticoid excess 10.4 HSD11B2 NR3C1 POMC
13 nutmeg liver 10.4 CP HP
14 hypokalemia 10.4 HSD11B2 NR3C1 POMC
15 conn's syndrome 10.3 HSD11B2 NR3C1 POMC
16 chronic pulmonary heart disease 10.3 CP HP
17 hyperthyroxinemia 10.3 ALB SERPINA7
18 meningitis and encephalitis 10.3 ALB CP
19 pituitary-dependent cushing's disease 10.3 POMC SERPINA6
20 premenstrual tension 10.2 HP POMC
21 anuria 10.2 ALB HSD11B2
22 syndrome of inappropriate antidiuretic hormone 10.2 ALB POMC
23 nelson syndrome 10.2 NR3C1 POMC PPARG
24 fetal erythroblastosis 10.2 ALB POMC
25 noma 10.2 ALB POMC
26 fascioliasis 10.1 ALB CP
27 rh isoimmunization 10.1 ALB POMC
28 adrenal gland disease 10.1 HSD11B2 NR3C1 POMC SERPINA6
29 euthyroid sick syndrome 10.0 ALB POMC SERPINA7
30 skeletal tuberculosis 10.0 CP HP
31 epileptic encephalopathy, early infantile, 36 10.0 A2M CP HP
32 diabetes mellitus, noninsulin-dependent 10.0
33 endometrial cancer 10.0
34 burns 10.0
35 hepatitis 10.0
36 polycystic ovary syndrome 10.0
37 endometriosis 10.0
38 hepatoblastoma 10.0
39 prediabetes syndrome 9.9 ALB PPARG
40 ovarian cancer 9.8
41 insulin-like growth factor i 9.8
42 pre-eclampsia 9.8
43 glucose intolerance 9.8
44 endometriosis of ovary 9.8
45 eclampsia 9.8
46 astrocytoma 9.8
47 pancreatitis 9.8
48 infertility 9.8
49 thyroiditis 9.8
50 chronic fatigue syndrome 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypotension
hypertension

Metabolic Features:
generalized fatigue

Muscle Soft Tissue:
muscle fatigue

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


Clinical features from OMIM:

611489

Human phenotypes related to Corticosteroid-Binding Globulin Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 hypotension 32 HP:0002615
4 increased muscle fatiguability 32 HP:0003750

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 9.1 A2M ALB HSD11B2 NR3C1 POMC PPARG

MGI Mouse Phenotypes related to Corticosteroid-Binding Globulin Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 CORT CP EGR1 HSD11B2 NR3C1 POMC
2 homeostasis/metabolism MP:0005376 9.96 ALB CORT CP EGR1 HP HSD11B2
3 cellular MP:0005384 9.92 HP HSD11B2 NR3C1 POMC PPARG ALB
4 cardiovascular system MP:0005385 9.91 CP EGR1 HP HSD11B2 NR3C1 POMC
5 liver/biliary system MP:0005370 9.76 ALB CP EGR1 HP NR3C1 POMC
6 neoplasm MP:0002006 9.5 ALB EGR1 HP HSD11B2 POMC PPARG
7 renal/urinary system MP:0005367 9.17 ALB HP HSD11B2 NR3C1 POMC PPARG

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:

41
Liver, Adrenal Gland

Publications for Corticosteroid-Binding Globulin Deficiency

Articles related to Corticosteroid-Binding Globulin Deficiency:

# Title Authors Year
1
Impact of corticosteroid-binding globulin deficiency on pregnancy and neonatal sex. ( 25695888 )
2015
2
Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. ( 17245537 )
2007
3
Greater replication and differentiation of preadipocytes in inherited corticosteroid-binding globulin deficiency. ( 12554596 )
2003
4
Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. ( 12780753 )
2003
5
Familial corticosteroid-binding globulin deficiency due to a novel null mutation: association with fatigue and relative hypotension. ( 11502797 )
2001
6
A case of cyclical Cushing's disease associated with corticosteroid-binding globulin deficiency: a rare pitfall in the diagnosis of Cushing's disease. ( 7581948 )
1995

Variations for Corticosteroid-Binding Globulin Deficiency

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

75
# Symbol AA change Variation ID SNP ID
1 SERPINA6 p.Leu115His VAR_007111 rs113418909
2 SERPINA6 p.Asp389Asn VAR_016223 rs28929488

ClinVar genetic disease variations for Corticosteroid-Binding Globulin Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA6 NM_001756.3(SERPINA6): c.1165G> A (p.Asp389Asn) single nucleotide variant Pathogenic rs28929488 GRCh37 Chromosome 14, 94770808: 94770808
2 SERPINA6 NM_001756.3(SERPINA6): c.1165G> A (p.Asp389Asn) single nucleotide variant Pathogenic rs28929488 GRCh38 Chromosome 14, 94304471: 94304471
3 SERPINA6 SERPINA6, 121G-A single nucleotide variant Pathogenic

Expression for Corticosteroid-Binding Globulin Deficiency

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

Pathways for Corticosteroid-Binding Globulin Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.8 EGR1 POMC
2 10.71 EGR1 NR3C1 POMC
3 10.6 NR3C1 PPARG
4 10.43 EGR1 NR3C1
5 9.96 NR3C1 SERPINA6

GO Terms for Corticosteroid-Binding Globulin Deficiency

Cellular components related to Corticosteroid-Binding Globulin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 A2M ALB CORT CP HP POMC
2 protein-containing complex GO:0032991 9.56 ALB NR3C1 PPARG TES
3 blood microparticle GO:0072562 9.26 A2M ALB CP HP
4 extracellular space GO:0005615 9.23 A2M ALB CORT CP HP POMC

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.13 A2M SERPINA6 SERPINA7
2 glucocorticoid metabolic process GO:0008211 8.62 HSD11B2 SERPINA6

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

# Name GO ID Score Top Affiliating Genes
1 neuropeptide hormone activity GO:0005184 9.26 CORT POMC
2 antioxidant activity GO:0016209 9.16 ALB HP
3 serine-type endopeptidase inhibitor activity GO:0004867 9.13 A2M SERPINA6 SERPINA7
4 steroid binding GO:0005496 8.8 HSD11B2 NR3C1 SERPINA6

Sources for Corticosteroid-Binding Globulin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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