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 53 12 49 24 55 71 28 13 14 69
Transcortin Deficiency 53 12 49 24 55
Cbg Deficiency 53 12 49 24 71
Corticosteroid-Binding Globulin Deficiency 36
Corticosteroid-Binding Globulin 13

Characteristics:

Orphanet epidemiological data:

55
corticosteroid-binding globulin deficiency
Inheritance: Semi-dominant;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
variable phenotype
many patients are asymptomatic


HPO:

31
corticosteroid-binding globulin deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course phenotypic variability


Classifications:

Orphanet: 55  
Rare endocrine diseases


External Ids:

OMIM 53 611489
Disease Ontology 12 DOID:0090030
ICD10 32 E27.8
Orphanet 55 ORPHA199247
UMLS via Orphanet 70 C1852529
ICD10 via Orphanet 33 E27.8
KEGG 36 H01163
UMLS 69 C1852529

Summaries for Corticosteroid-Binding Globulin Deficiency

NIH Rare Diseases : 49 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. Last updated: 9/13/2016

MalaCards based summary : Corticosteroid-Binding Globulin Deficiency, also known as transcortin deficiency, is related to body mass index quantitative trait locus 11 and subacute thyroiditis, and has symptoms including hypertension, hypotension and abnormality of metabolism/homeostasis. An important gene associated with Corticosteroid-Binding Globulin Deficiency is SERPINA6 (Serpin Family A Member 6), and among its related pathways/superpathways are Regulation of Androgen receptor activity and Development_Leptin signaling via JAK/STAT and MAPK cascades. Affiliated tissues include liver and adrenal gland, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 : 24 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 : 71 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 : 72 Transcortin, also known as corticosteroid-binding globulin (CBG) or serpin A6 is a protein that in... more...

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 59)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 29.5 HSD11B2 NR3C1 POMC PPARG
2 subacute thyroiditis 10.3 SERPINA6 SERPINA7
3 allergic urticaria 10.3 A2M NR3C1
4 adult syndrome 10.3 HSD11B2 NR3C1
5 acth-secreting pituitary adenoma 10.2 NR3C1 POMC
6 euthyroid sick syndrome 10.2 POMC SERPINA7
7 body mass index quantitative trait locus 9 10.2
8 body mass index quantitative trait locus 8 10.2
9 body mass index quantitative trait locus 4 10.2
10 body mass index quantitative trait locus 10 10.2
11 body mass index quantitative trait locus 7 10.2
12 body mass index quantitative trait locus 12 10.2
13 body mass index quantitative trait locus 14 10.2
14 body mass index quantitative trait locus 18 10.2
15 steroid inherited metabolic disorder 10.2 HSD11B2 POMC
16 persistent fetal circulation syndrome 10.1 HSD11B2 POMC
17 chromophobe adenoma 10.1 POMC SERPINA7
18 ocular hypertension 10.1 HSD11B2 NR3C1
19 pituitary-dependent cushing's disease 10.1 POMC SERPINA6
20 adrenal gland hyperfunction 10.0 NR3C1 POMC SERPINA6
21 hyperaldosteronism, familial, type i 10.0 HSD11B2 NR3C1 POMC
22 thyroid gland disease 10.0 POMC SERPINA7
23 adrenal cortex disease 10.0 HSD11B2 NR3C1 POMC
24 apparent mineralocorticoid excess 10.0 HSD11B2 NR3C1 POMC
25 conn's syndrome 10.0 HSD11B2 NR3C1 POMC
26 congenital disorder of glycosylation, type ia 10.0 HP SERPINA7
27 nutmeg liver 10.0 CP HP
28 kleine-levin hibernation syndrome 10.0 CORT POMC
29 endometrial cancer 9.9
30 burns 9.9
31 polycystic ovary syndrome 9.9
32 endometriosis 9.9
33 hepatoblastoma 9.9
34 chronic pulmonary heart disease 9.9 CP HP
35 mental depression 9.9 CORT NR3C1 POMC
36 skeletal tuberculosis 9.8 CP HP
37 nelson syndrome 9.8 NR3C1 POMC PPARG
38 adrenal gland disease 9.8 HSD11B2 NR3C1 POMC SERPINA6
39 blood group, i system 9.8
40 ovarian cancer 9.8
41 insulin-like growth factor i 9.8
42 hepatitis 9.8
43 pre-eclampsia 9.8
44 glucose intolerance 9.8
45 endometriosis of ovary 9.8
46 eclampsia 9.8
47 astrocytoma 9.8
48 pancreatitis 9.8
49 infertility 9.8
50 thyroiditis 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:

53
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:

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

UMLS symptoms related to Corticosteroid-Binding Globulin Deficiency:


generalized fatigue, fatigue

MGI Mouse Phenotypes related to Corticosteroid-Binding Globulin Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 PPARG SERPINA6 CORT CP EGR1 HSD11B2
2 homeostasis/metabolism MP:0005376 10.02 CORT CP EGR1 HP HSD11B2 NR3C1
3 cardiovascular system MP:0005385 9.95 CP EGR1 HP HSD11B2 NR3C1 POMC
4 immune system MP:0005387 9.87 CP EGR1 HP NR3C1 POMC PPARG
5 liver/biliary system MP:0005370 9.8 CP EGR1 HP NR3C1 POMC PPARG
6 neoplasm MP:0002006 9.55 EGR1 HP HSD11B2 POMC PPARG
7 no phenotypic analysis MP:0003012 9.35 HSD11B2 NR3C1 POMC PPARG SERPINA6
8 renal/urinary system MP:0005367 9.1 HP HSD11B2 NR3C1 POMC PPARG 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 28 SERPINA6

Anatomical Context for Corticosteroid-Binding Globulin Deficiency

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

38
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:

71
# 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 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

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 9.5 A2M CORT CP HP POMC SERPINA6
2 blood microparticle GO:0072562 9.33 A2M CP HP
3 extracellular space GO:0005615 9.17 A2M CORT CP HP POMC SERPINA6

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 9.16 CORT POMC
2 serine-type endopeptidase inhibitor activity GO:0004867 9.13 A2M SERPINA6 SERPINA7
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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