TBGQTL
MCID: THY115
MIFTS: 15

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 57 6
Thyroxine-Binding Globulin Qtl 57
Tbgqtl 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


Classifications:



External Ids:

OMIM® 57 300932
MedGen 41 C4310821

Summaries for Thyroxine-Binding Globulin Quantitative Trait Locus

OMIM® : 57 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) (Updated 20-May-2021)

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®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
reduced or increased thyroxine-binding globulin

Clinical features from OMIM®:

300932 (Updated 20-May-2021)

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 28)
# Title Authors PMID Year
1
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. 6 57
8964852 1996
2
Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families. 6 57
8530630 1995
3
Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. 57 6
1906047 1991
4
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. 57 6
2155256 1990
5
Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. 6 57
4171474 1968
6
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. 57
16947003 2006
7
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. 6
11889160 2002
8
Three novel mutations causing complete T(4)-binding globulin deficiency. 6
11600582 2001
9
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. 6
11061524 2000
10
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). 6
9768672 1998
11
Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. 6
9510125 1998
12
Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese. 6
8636271 1996
13
Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). 6
7951486 1993
14
Molecular basis of inherited thyroxine-binding globulin defects. 6
18407078 1992
15
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. 6
1943753 1991
16
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. 6
1906892 1991
17
Congenital thyroxine binding globulin deficiency: incidence and inheritance. 57
3114125 1987
18
Genetic polymorphism of thyroxin-binding globulin (TBG) in the Pacific area. 57
6428221 1984
19
A possible variant of thyroxine-binding globulin in Australian Aborigines. 57
6794959 1981
20
Detection of genetic variation with radioactive ligands. IV. X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG). 57
6789676 1981
21
Thyroxine-binding globulin deficiency and associated neurological deficit. 57
4627386 1972
22
Familial thyroxine-binding globulin deficiency. 57
4966620 1968
23
X-chromosome linked inheritance of thyroxine-binding globulin deficiency. 57
4965464 1967
24
X-chromosome linked inheritance of elevated thyroxine-binding globulin. 57
4169433 1967
25
X-chromosome linked familial decrease in thyroxine-binding globulin activity. 57
4958593 1966
26
Human thyroxine-binding globulin deficiency. A genetic study. 57
4957281 1966
27
INHERITANCE OF DECREASED THYROXINE-BINDING BY THE THYROXINE-BINDING GLOBULIN. 57
14134070 1964
28
Familial increase in the thyroxine-binding sites in serum alpha globulin. 57
13798328 1959

Variations for Thyroxine-Binding Globulin Quantitative Trait Locus

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

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINA7 TBG, DUP Duplication association 9793 GRCh37:
GRCh38:
2 SERPINA7 TBG, 19-BP DEL, EX4 Deletion association 9798 GRCh37:
GRCh38:
3 SERPINA7 TBG, 1-BP DEL, 2690G Deletion association 9799 GRCh37:
GRCh38:
4 SERPINA7 TBG, 1-BP DEL, 3358G Deletion association 9800 GRCh37:
GRCh38:
5 SERPINA7 NM_000354.6(SERPINA7):c.740T>C (p.Leu247Pro) SNV association 9783 rs28937312 GRCh37: X:105279259-105279259
GRCh38: X:106035268-106035268
6 SERPINA7 NM_000354.5(SERPINA7):c.397G>C (p.Ala133Pro) SNV association 9788 rs28933688 GRCh37: X:105280653-105280653
GRCh38: X:106036662-106036662
7 SERPINA7 NM_000354.5(SERPINA7):c.555delT (p.Val186Trpfs) Deletion association 9789 rs483352903 GRCh37: X:105280495-105280495
GRCh38: X:106036504-106036504
8 SERPINA7 NM_000354.5(SERPINA7):c.1114delC (p.Leu372Phefs) Deletion association 9791 rs587776719 GRCh37: X:105277625-105277625
GRCh38: X:106033634-106033634
9 SERPINA7 NM_000354.5(SERPINA7):c.1148C>T (p.Pro383Leu) SNV association 9794 rs72554658 GRCh37: X:105277591-105277591
GRCh38: X:106033600-106033600
10 SERPINA7 NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter) SNV association 9795 rs121909496 GRCh37: X:105278371-105278371
GRCh38: X:106034380-106034380
11 SERPINA7 NM_000354.5(SERPINA7):c.623-2A>G SNV association 9796 rs587776720 GRCh37: X:105279378-105279378
GRCh38: X:106035387-106035387
12 SERPINA7 NM_000354.5(SERPINA7):c.174delT (p.Val59Trpfs) Deletion association 9797 rs587776721 GRCh37: X:105280876-105280876
GRCh38: X:106036885-106036885
13 SERPINA7 NM_000354.5(SERPINA7):c.1044+5G>A SNV association 9801 rs587776722 GRCh37: X:105278221-105278221
GRCh38: 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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