MCID: CRT046
MIFTS: 39

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 54 12 50 25 56 71 29 13 14 69
Transcortin Deficiency 12 50 25 56
Cbg Deficiency 12 50 25 71
Corticosteroid-Binding Globulin 13

Characteristics:

Orphanet epidemiological data:

56
corticosteroid-binding globulin deficiency
Inheritance: Semi-dominant;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
variable phenotype
many patients are asymptomatic


HPO:

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


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 611489
Disease Ontology 12 DOID:0090030
ICD10 33 E27.8
Orphanet 56 ORPHA199247
UMLS via Orphanet 70 C1852529
ICD10 via Orphanet 34 E27.8

Summaries for Corticosteroid-Binding Globulin Deficiency

NIH Rare Diseases : 50 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 lung occult large cell carcinoma and acute cervicitis, 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 : 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 : 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 2VDX, 2VDY, 4BB2, 4C41,... 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 all 46)
id Related Disease Score Top Affiliating Genes
1 lung occult large cell carcinoma 10.5 SERPINA6 SERPINA7
2 acute cervicitis 10.5 A2M NR3C1
3 congenital nonspherocytic hemolytic anemia 10.4 POMC SERPINA7
4 clear cell acanthoma 10.4 HSD11B2 POMC
5 traumatic glaucoma 10.3 HSD11B2 POMC
6 diencephalic neoplasm 10.3 POMC SERPINA7
7 cold-induced sweating syndrome 2 10.3 NR3C1 POMC
8 acute myocarditis 10.2 POMC SERPINA6
9 xeroderma pigmentosum, group f 10.2 HP SERPINA7
10 adrenal cortex disease 10.2 NR3C1 POMC SERPINA6
11 hypoaldosteronism, congenital, due to cmo ii deficiency 10.1 HSD11B2 NR3C1 POMC
12 trabecular follicular adenocarcinoma 10.1 HSD11B2 NR3C1 POMC
13 north american indian childhood cirrhosis 10.1 HSD11B2 NR3C1 POMC
14 obesity 10.1
15 coloboma 10.1 HSD11B2 NR3C1 POMC
16 fibrolamellar carcinoma 10.1 POMC SERPINA7
17 pediatric angiosarcoma 10.1 HSD11B2 POMC
18 neonatal urinary tract infectious disease 10.0 CP HP
19 uterine corpus adenocarcinofibroma 10.0 HP POMC
20 persistent hyperplastic primary vitreous 10.0 NR3C1 POMC
21 actinobacillosis 10.0 NR3C1 POMC PPARG
22 female breast upper-inner quadrant cancer 9.9 CP HP
23 hepatoblastoma 9.9
24 endometrial cancer 9.9
25 burns 9.9
26 polycystic ovary syndrome 9.9
27 endometriosis 9.9
28 bronchiectasis 9.9 HSD11B2 NR3C1 POMC SERPINA6
29 hypertension, essential 9.8 HP HSD11B2 NR3C1
30 infratentorial cancer 9.8 HP PPARG SERPINA6
31 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8 CP HP
32 myopathy, distal, with early respiratory failure, autosomal dominant 9.7 CORT POMC
33 pancreatitis 9.7
34 infertility 9.7
35 thyroiditis 9.7
36 chronic fatigue syndrome 9.7
37 insulin-like growth factor i 9.7
38 hepatitis 9.7
39 pre-eclampsia 9.7
40 glucose intolerance 9.7
41 eclampsia 9.7
42 astrocytoma 9.7
43 mental retardation, x-linked, syndromic 15 9.7 A2M CP HP
44 keratosis 9.6 CORT NR3C1 POMC
45 chronic endophthalmitis 9.4 CP HP
46 cutis laxa, autosomal recessive, type ia 6.2 A2M CORT CP EGR1 HP HSD11B2

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:

54

Muscle Soft Tissue:
muscle fatigue

Metabolic Features:
generalized fatigue

Cardiovascular- Vascular:
hypertension
hypotension

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

UMLS symptoms related to Corticosteroid-Binding Globulin Deficiency:


fatigue, generalized fatigue

MGI Mouse Phenotypes related to Corticosteroid-Binding Globulin Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CORT CP EGR1 HSD11B2 NR3C1 POMC
2 homeostasis/metabolism MP:0005376 10.02 CORT CP EGR1 HP HSD11B2 NR3C1
3 cardiovascular system MP:0005385 9.98 PPARG CP EGR1 HP HSD11B2 NR3C1
4 cellular MP:0005384 9.95 CP EGR1 HP HSD11B2 NR3C1 POMC
5 immune system MP:0005387 9.87 CP EGR1 HP NR3C1 POMC PPARG
6 liver/biliary system MP:0005370 9.8 CP EGR1 HP NR3C1 POMC PPARG
7 neoplasm MP:0002006 9.55 EGR1 HP HSD11B2 POMC PPARG
8 no phenotypic analysis MP:0003012 9.35 HSD11B2 NR3C1 POMC PPARG SERPINA6
9 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:

id Genetic test Affiliating Genes
1 Corticosteroid-Binding Globulin Deficiency 29

Anatomical Context for Corticosteroid-Binding Globulin Deficiency

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

39
Liver, Adrenal Gland

Publications for Corticosteroid-Binding Globulin Deficiency

Articles related to Corticosteroid-Binding Globulin Deficiency:

id 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
Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. ( 12780753 )
2003
4
Greater replication and differentiation of preadipocytes in inherited corticosteroid-binding globulin deficiency. ( 12554596 )
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
id 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
id 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 9.13 A2M SERPINA6 SERPINA7
2 neuropeptide hormone activity GO:0005184 8.85 CORT
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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