Inherited Thyroxine-Binding Globulin Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INH007 MIFTS: 14	Inherited Thyroxine-Binding Globulin Deficiency Categories: Endocrine diseases
Tissues Related diseases Publications Expand all tables

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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:

MalaCards categories:
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C3711378

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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.

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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
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:

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Symptoms & Phenotypes for Inherited Thyroxine-Binding Globulin Deficiency

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Drugs & Therapeutics for Inherited Thyroxine-Binding Globulin Deficiency

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

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Genetic Tests for Inherited Thyroxine-Binding Globulin Deficiency

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Anatomical Context for Inherited Thyroxine-Binding Globulin Deficiency

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

⁴⁰

Thyroid, Testes, Brain, Liver

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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	Dang PP...Teng XC	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	Gomes-Lima CJ...Lofrano-Porto A	29733970	2018
3	Directional thyroid hormone distribution via the blood stream to target sites. ⁶¹	Janssen ST...Janssen OE	28257828	2017
4	A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. ⁶¹	Pappa T...Refetoff S	28785540	2017
5	A NOVEL MUTATION CAUSING COMPLETE THYROID BINDING GLOBULIN DEFICIENCY (TBG-CD MIA) IN A MALE WITH COEXISTING GRAVES DISEASE. ⁶¹	Berger HR...Weiss RE	28553659	2017
6	Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency. ⁶¹	Connelly KJ...LaFranchi SH	28910808	2017
7	First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7. ⁶¹	Soheilipour F...Behnam B	27331012	2016
8	[Partial thyroxine binding globulin deficiency in test tube infants: report of cases and literature review]. ⁶¹	Fang YL...Liang L	27256229	2016
9	Thyroxine binding globulin excess detected by neonatal screening. ⁶¹	Jin HY	27462589	2016
10	Challenges in interpretation of thyroid hormone test results. ⁶¹	Lalic T...Zarkovic M	27483566	2016
11	Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin. ⁶¹	Moeller LC...Fuhrer D	26601081	2015
12	A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. ⁶¹	Ferrara AM...Refetoff S	25361180	2015
13	A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency. ⁶¹	Domingues R...Bugalho MJ	19415532	2009
14	A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency. ⁶¹	Lacka K...Lacki JK	17887925	2007
15	Pediatric thyroid testing issues. ⁶¹	DeBoer MD...Lafranchi SH	18167471	2007
16	TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. ⁶¹	Mannavola D...Beck-Peccoz P	16947003	2006
17	Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. ⁶¹	Kempers MJ...Vulsma T	16787990	2006
18	C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. ⁶¹	Moeller LC...Janssen OE	16735497	2006
19	Thyroid hormone binding protein abnormalities in patients referred for thyroid disorders. ⁶¹	Bhatkar SV...Samuel AM	15489553	2004
20	Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. ⁶¹	Fingerhut A...Janssen OE	15126580	2004
21	Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. ⁶¹	Narendran P...Refetoff S	14974930	2003
22	Impact of thyroxine-binding globulin on thyroid hormone economy during pregnancy. ⁶¹	Zigman JM...Garber JR	14751039	2003
23	Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. ⁶¹	Su CC...Jap TS	12641622	2003
24	Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. ⁶¹	Domingues R...Sobrinho L	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	Reutrakul S...Refetoff S	11889160	2002
26	[Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests]. ⁶¹	Kvistad PH...Myking OL	11419101	2001
27	A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. ⁶¹	Miura Y...Phillip M	11061524	2000
28	Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. ⁶¹	Carrel AL...Allen DB	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	Carvalho GA...Refetoff S	9768672	1998
30	Lessons to the learned from TBG deficiency. ⁶¹	Barlow JW	9302364	1997
31	A novel mutation causing complete deficiency of thyroxine binding globulin. ⁶¹	Ueta Y...Shigemasa C	9302363	1997
32	Diagnostic and therapeutic confusion caused by TBG deficiency in an 18 years old adolescent. ⁶¹	Ploner O...Hehrmann R	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	Okamoto H...Oiso Y	8964852	1996
34	Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination. ⁶¹	Noguchi T...Kumahara Y	8739779	1996
35	Type II glycogenosis and thyroxine binding globulin deficiency in the same family. ⁶¹	Manta P...Papageorgiou C	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	Inagaki A...Oiso Y	8636271	1996
37	Measurement of serum free thyroid hormone concentrations: an essential tool for the diagnosis of thyroid dysfunction. ⁶¹	Bartalena L...Martino E	8964573	1996
38	Thyroxine-binding globulin: organization of the gene and variants. ⁶¹	Refetoff S...Hayashi Y	8964571	1996
39	Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. ⁶¹	Macchia PE...Refetoff S	8530628	1995
40	Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. ⁶¹	Tojo K...Sakai O	7647413	1995
41	Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family. ⁶¹	Miura Y...Seo H	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	Wilcox RB...Tomei RT	8038911	1994
43	Familial dysalbuminaemic hyperthyroxinaemia and inherited partial TBG deficiency: first report. ⁶¹	Langsteger W...Eber O	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	Miura Y...Seo H	8106612	1994
45	Thyroxine-binding globulin deficiency detected by newborn screening. ⁶¹	Mandel S...LaFranchi S	8429435	1993
46	Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). ⁶¹	Miura Y...Seo H	7951486	1993
47	Partial deficiency of thyroxine-binding globulin: an HLA study. ⁶¹	Hnikova O...Zikmund J	8112720	1993
48	Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family. ⁶¹	Shirotani T...Shichiri M	1294376	1992
49	[A case of chronic thyroiditis with transient painful thyroiditis occurring after the administration of lipiodol]. ⁶¹	Ishizuki Y...Tanigawa S	1333996	1992
50	In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. ⁶¹	Janssen OE...Refetoff S	1378434	1992

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Genes for Inherited Thyroxine-Binding Globulin Deficiency

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Variations for Inherited Thyroxine-Binding Globulin Deficiency

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Expression for Inherited Thyroxine-Binding Globulin Deficiency

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

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Pathways for Inherited Thyroxine-Binding Globulin Deficiency

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GO Terms for Inherited Thyroxine-Binding Globulin Deficiency

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