MCID: INH007
MIFTS: 14

Inherited Thyroxine-Binding Globulin Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Inherited Thyroxine-Binding Globulin Deficiency

MalaCards integrated aliases for Inherited Thyroxine-Binding Globulin Deficiency:

Name: Inherited Thyroxine-Binding Globulin Deficiency 25 71
Tbg Deficiency 25

Classifications:



External Ids:

UMLS 71 C3711378

Summaries for Inherited Thyroxine-Binding Globulin Deficiency

Genetics Home Reference : 25 Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.

MalaCards based summary : Inherited Thyroxine-Binding Globulin Deficiency, also known as tbg deficiency, is related to hyperthyroidism and graves disease 1. Affiliated tissues include thyroid, testes and brain.

Related Diseases for Inherited Thyroxine-Binding Globulin Deficiency

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

# Related Disease Score Top Affiliating Genes
1 hyperthyroidism 10.2
2 graves disease 1 10.1
3 thyroxine-binding globulin quantitative trait locus 10.1
4 hypothyroidism 10.1
5 congenital hypothyroidism 10.0
6 subacute thyroiditis 10.0
7 thyroiditis 10.0

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



Diseases related to Inherited Thyroxine-Binding Globulin Deficiency

Symptoms & Phenotypes for Inherited Thyroxine-Binding Globulin Deficiency

Drugs & Therapeutics for Inherited Thyroxine-Binding Globulin Deficiency

Search Clinical Trials , NIH Clinical Center for Inherited Thyroxine-Binding Globulin Deficiency

Genetic Tests for Inherited Thyroxine-Binding Globulin Deficiency

Anatomical Context for Inherited Thyroxine-Binding Globulin Deficiency

MalaCards organs/tissues related to Inherited Thyroxine-Binding Globulin Deficiency:

40
Thyroid, Testes, Brain, Liver

Publications for Inherited Thyroxine-Binding Globulin Deficiency

Articles related to Inherited Thyroxine-Binding Globulin Deficiency:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report. 61
31799319 2019
2
Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling. 61
29733970 2018
3
Directional thyroid hormone distribution via the blood stream to target sites. 61
28257828 2017
4
A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. 61
28785540 2017
5
A NOVEL MUTATION CAUSING COMPLETE THYROID BINDING GLOBULIN DEFICIENCY (TBG-CD MIA) IN A MALE WITH COEXISTING GRAVES DISEASE. 61
28553659 2017
6
Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency. 61
28910808 2017
7
First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7. 61
27331012 2016
8
[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review]. 61
27256229 2016
9
Thyroxine binding globulin excess detected by neonatal screening. 61
27462589 2016
10
Challenges in interpretation of thyroid hormone test results. 61
27483566 2016
11
Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin. 61
26601081 2015
12
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. 61
25361180 2015
13
A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency. 61
19415532 2009
14
A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency. 61
17887925 2007
15
Pediatric thyroid testing issues. 61
18167471 2007
16
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. 61
16947003 2006
17
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. 61
16787990 2006
18
C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. 61
16735497 2006
19
Thyroid hormone binding protein abnormalities in patients referred for thyroid disorders. 61
15489553 2004
20
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. 61
15126580 2004
21
Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. 61
14974930 2003
22
Impact of thyroxine-binding globulin on thyroid hormone economy during pregnancy. 61
14751039 2003
23
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. 61
12641622 2003
24
Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. 61
11916615 2002
25
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. 61
11889160 2002
26
[Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests]. 61
11419101 2001
27
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. 61
11061524 2000
28
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. 61
10429016 1999
29
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). 61
9768672 1998
30
Lessons to the learned from TBG deficiency. 61
9302364 1997
31
A novel mutation causing complete deficiency of thyroxine binding globulin. 61
9302363 1997
32
Diagnostic and therapeutic confusion caused by TBG deficiency in an 18 years old adolescent. 61
9439924 1997
33
Molecular analysis of females manifesting thyroxine-binding globulin (TBG) deficiency: selective X-chromosome inactivation responsible for the difference between phenotype and genotype in TBG-deficient females. 61
8964852 1996
34
Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination. 61
8739779 1996
35
Type II glycogenosis and thyroxine binding globulin deficiency in the same family. 61
8765758 1996
36
Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese. 61
8636271 1996
37
Measurement of serum free thyroid hormone concentrations: an essential tool for the diagnosis of thyroid dysfunction. 61
8964573 1996
38
Thyroxine-binding globulin: organization of the gene and variants. 61
8964571 1996
39
Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. 61
8530628 1995
40
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. 61
7647413 1995
41
Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family. 61
8077354 1994
42
Heterogeneity in affinities of serum proteins for thyroxine among patients with non-thyroidal illness as indicated by the serum free thyroxine response to serum dilution. 61
8038911 1994
43
Familial dysalbuminaemic hyperthyroxinaemia and inherited partial TBG deficiency: first report. 61
8033365 1994
44
A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: a possible mechanism of complete thyroxine-binding globulin deficiency in Japanese. 61
8106612 1994
45
Thyroxine-binding globulin deficiency detected by newborn screening. 61
8429435 1993
46
Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). 61
7951486 1993
47
Partial deficiency of thyroxine-binding globulin: an HLA study. 61
8112720 1993
48
Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family. 61
1294376 1992
49
[A case of chronic thyroiditis with transient painful thyroiditis occurring after the administration of lipiodol]. 61
1333996 1992
50
In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. 61
1378434 1992

Variations for Inherited Thyroxine-Binding Globulin Deficiency

Expression for Inherited Thyroxine-Binding Globulin Deficiency

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

Pathways for Inherited Thyroxine-Binding Globulin Deficiency

GO Terms for Inherited Thyroxine-Binding Globulin Deficiency

Sources for Inherited Thyroxine-Binding Globulin Deficiency

3 CDC
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