TBGQTL
MCID: THY115
MIFTS: 12

Thyroxine-Binding Globulin Quantitative Trait Locus (TBGQTL)

Categories: Genetic diseases

Aliases & Classifications for Thyroxine-Binding Globulin Quantitative Trait Locus

MalaCards integrated aliases for Thyroxine-Binding Globulin Quantitative Trait Locus:

Name: Thyroxine-Binding Globulin Quantitative Trait Locus 58 6
Thyroxine-Binding Globulin Qtl 58
Tbgqtl 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


Classifications:



External Ids:

OMIM 58 300932

Summaries for Thyroxine-Binding Globulin Quantitative Trait Locus

OMIM : 58 Inherited abnormalities in the level of serum TBG have been classified as complete deficiency (TBG-CD), partial deficiency (TBG-PD), and excess (TBG-E). Patients are euthyroid (summary by Mori et al., 1995). (300932)

MalaCards based summary : Thyroxine-Binding Globulin Quantitative Trait Locus, is also known as thyroxine-binding globulin qtl. An important gene associated with Thyroxine-Binding Globulin Quantitative Trait Locus is SERPINA7 (Serpin Family A Member 7).

Related Diseases for Thyroxine-Binding Globulin Quantitative Trait Locus

Symptoms & Phenotypes for Thyroxine-Binding Globulin Quantitative Trait Locus

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
reduced or increased thyroxine-binding globulin

Clinical features from OMIM:

300932

Drugs & Therapeutics for Thyroxine-Binding Globulin Quantitative Trait Locus

Search Clinical Trials , NIH Clinical Center for Thyroxine-Binding Globulin Quantitative Trait Locus

Genetic Tests for Thyroxine-Binding Globulin Quantitative Trait Locus

Anatomical Context for Thyroxine-Binding Globulin Quantitative Trait Locus

Publications for Thyroxine-Binding Globulin Quantitative Trait Locus

Articles related to Thyroxine-Binding Globulin Quantitative Trait Locus:

(show all 15)
# Title Authors Year
1
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. ( 11889160 )
2002
2
Three novel mutations causing complete T(4)-binding globulin deficiency. ( 11600582 )
2001
3
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. ( 11061524 )
2000
4
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). ( 9768672 )
1998
5
Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. ( 9510125 )
1998
6
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. ( 8964852 )
1996
7
Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese. ( 8636271 )
1996
8
Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families. ( 8530630 )
1995
9
Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). ( 7951486 )
1993
10
Molecular basis of inherited thyroxine-binding globulin defects. ( 18407078 )
1992
11
Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. ( 1906047 )
1991
12
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. ( 1943753 )
1991
13
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. ( 1906892 )
1991
14
Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. ( 2155256 )
1990
15
Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. ( 4171474 )
1968

Variations for Thyroxine-Binding Globulin Quantitative Trait Locus

ClinVar genetic disease variations for Thyroxine-Binding Globulin Quantitative Trait Locus:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA7 NM_000354.5(SERPINA7): c.740T> C (p.Leu247Pro) single nucleotide variant association rs28937312 GRCh37 Chromosome X, 105279259: 105279259
2 SERPINA7 NM_000354.5(SERPINA7): c.740T> C (p.Leu247Pro) single nucleotide variant association rs28937312 GRCh38 Chromosome X, 106035268: 106035268
3 SERPINA7 NM_000354.5(SERPINA7): c.397G> C (p.Ala133Pro) single nucleotide variant association rs28933688 GRCh37 Chromosome X, 105280653: 105280653
4 SERPINA7 NM_000354.5(SERPINA7): c.397G> C (p.Ala133Pro) single nucleotide variant association rs28933688 GRCh38 Chromosome X, 106036662: 106036662
5 SERPINA7 NM_000354.5(SERPINA7): c.555delT (p.Val186Trpfs) deletion association rs483352903 GRCh37 Chromosome X, 105280495: 105280495
6 SERPINA7 NM_000354.5(SERPINA7): c.555delT (p.Val186Trpfs) deletion association rs483352903 GRCh38 Chromosome X, 106036504: 106036504
7 SERPINA7 NM_000354.5(SERPINA7): c.1114delC (p.Leu372Phefs) deletion association rs587776719 GRCh37 Chromosome X, 105277625: 105277625
8 SERPINA7 NM_000354.5(SERPINA7): c.1114delC (p.Leu372Phefs) deletion association rs587776719 GRCh38 Chromosome X, 106033634: 106033634
9 SERPINA7 TBG, DUP duplication association
10 SERPINA7 NM_000354.5(SERPINA7): c.1148C> T (p.Pro383Leu) single nucleotide variant association rs72554658 GRCh37 Chromosome X, 105277591: 105277591
11 SERPINA7 NM_000354.5(SERPINA7): c.1148C> T (p.Pro383Leu) single nucleotide variant association rs72554658 GRCh38 Chromosome X, 106033600: 106033600
12 SERPINA7 NM_000354.5(SERPINA7): c.899G> A (p.Trp300Ter) single nucleotide variant association rs121909496 GRCh37 Chromosome X, 105278371: 105278371
13 SERPINA7 NM_000354.5(SERPINA7): c.899G> A (p.Trp300Ter) single nucleotide variant association rs121909496 GRCh38 Chromosome X, 106034380: 106034380
14 SERPINA7 NM_000354.5(SERPINA7): c.623-2A> G single nucleotide variant association rs587776720 GRCh37 Chromosome X, 105279378: 105279378
15 SERPINA7 NM_000354.5(SERPINA7): c.623-2A> G single nucleotide variant association rs587776720 GRCh38 Chromosome X, 106035387: 106035387
16 SERPINA7 NM_000354.5(SERPINA7): c.174delT (p.Val59Trpfs) deletion association rs587776721 GRCh37 Chromosome X, 105280876: 105280876
17 SERPINA7 NM_000354.5(SERPINA7): c.174delT (p.Val59Trpfs) deletion association rs587776721 GRCh38 Chromosome X, 106036885: 106036885
18 SERPINA7 TBG, 19-BP DEL, EX4 deletion association
19 SERPINA7 TBG, 1-BP DEL, 2690G deletion association
20 SERPINA7 TBG, 1-BP DEL, 3358G deletion association
21 SERPINA7 NM_000354.5(SERPINA7): c.1044+5G> A single nucleotide variant association rs587776722 GRCh37 Chromosome X, 105278221: 105278221
22 SERPINA7 NM_000354.5(SERPINA7): c.1044+5G> A single nucleotide variant association rs587776722 GRCh38 Chromosome X, 106034230: 106034230

Expression for Thyroxine-Binding Globulin Quantitative Trait Locus

Search GEO for disease gene expression data for Thyroxine-Binding Globulin Quantitative Trait Locus.

Pathways for Thyroxine-Binding Globulin Quantitative Trait Locus

GO Terms for Thyroxine-Binding Globulin Quantitative Trait Locus

Sources for Thyroxine-Binding Globulin Quantitative Trait Locus

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