MCID: THY041
MIFTS: 28

Thyroxine-Binding Globulin Deficiency malady

Summaries for Thyroxine-Binding Globulin Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Thyroxine-binding globulin (TBG) binds thyroid hormone in circulation. It is one of three proteins... more...

MalaCards: Thyroxine-Binding Globulin Deficiency is related to congenital hypothyroidism and graves' disease. An important gene associated with Thyroxine-Binding Globulin Deficiency is SERPINA7 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7). The compounds iodine and amiodarone have been mentioned in the context of this disorder. Affiliated tissues include liver and thyroid.

Description from OMIM:47 314200

Aliases & Classifications for Thyroxine-Binding Globulin Deficiency

Sources:
47OMIM, 61UMLS
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Aliases & Descriptions:

thyroxine-binding globulin deficiency 47 61


Related Diseases for Thyroxine-Binding Globulin Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Thyroxine-Binding Globulin Deficiency:



Diseases related to thyroxine-binding globulin deficiency

Clinical Features for Thyroxine-Binding Globulin Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

314200

Clinical synopsis from OMIM:

314200

Drugs & Therapeutics for Thyroxine-Binding Globulin Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Thyroxine-Binding Globulin Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Thyroxine-Binding Globulin Deficiency

Search CenterWatch for Thyroxine-Binding Globulin Deficiency

Genetic Tests for Thyroxine-Binding Globulin Deficiency

Anatomical Context for Thyroxine-Binding Globulin Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Thyroxine-Binding Globulin Deficiency:

33
Liver, Thyroid

Animal Models for Thyroxine-Binding Globulin Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Thyroxine-Binding Globulin Deficiency

Sources:
51PubMed
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Articles related to Thyroxine-Binding Globulin Deficiency:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Novel Mutation p.A64D in the Serpina7 Gene as a Cause of Partial Thyroxine-binding Globulin Deficiency Associated with Increases Affinity in Transthyretin by a Known p.A109T Mutation in the TTR Gene. (24356794)
2013
2
A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency. (19415532)
2009
3
C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. (16735497)
2006
4
Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. (12641622)
2003
5
Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. (14974930)
2003
6
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
7
Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency. (11916615)
2002
8
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. (11061524)
2000
9
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. (10429016)
1999
10
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
11
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. (7647413)
1995
12
High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. (7635701)
1995
13
A case of familial thyroxine binding globulin excess associated with growth hormone deficiency. (7942005)
1994
14
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. (8106612)
1994
15
Thyroxine-binding globulin deficiency detected by newborn screening. (8429435)
1993
16
Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause. (7951522)
1993
17
Sequence of a variant thyroxine-binding globulin (TBG) in a family with partial TBG deficiency in Japanese (TBG-PDJ). (7951486)
1993
18
Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis. (8495048)
1993
19
Thyroxine-binding globulin deficiency misdiagnosed as hypothyroidism. (8345439)
1993
20
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. (1906892)
1991
21
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. (1943753)
1991
22
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
23
Thyroxine-binding globulin deficiency re-examined. (3139334)
1988
24
A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio. (3091890)
1986
25
Primary thyroid failure with concomitant thyroxine binding globulin deficiency. (3921099)
1985
26
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
1983
27
Thyroid function in goitrous subjects with thyroxine binding globulin deficiency. (6405573)
1983
28
Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
1981
29
Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
1981
30
Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
1981
31
A case of isolated growth hormone deficiency associated with familial thyroxine binding globulin deficiency. (6788542)
1981
32
Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
1979
33
Thyroxine binding globulin deficiency which mimics neonatal hypothyroidism. (418318)
1978
34
Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia. (192498)
1977
35
Growth retardation and familial thyroxine-binding globulin deficiency. (71932)
1977
36
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familial thyroxine-binding globulin deficiency. (72658)
1977
37
Increased free thyroxine in a euthyroid patient with thyroxine-binding globulin deficiency. (816806)
1976
38
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency. (828576)
1976
39
Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. (56342)
1976
40
Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
1975
41
Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. (805043)
1975
42
Study of a kindred with thyroxine-binding globulin deficiency and oligomenorrhea. (805542)
1975
43
Familial thyroxine-binding globulin deficiency. A study of three Danish families. (4206122)
1974
44
Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci. (4197606)
1973
45
Growth pattern in a boy with thyroxine-binding globulin deficiency. (4623427)
1972
46
Growth retardation and thyroxine-binding globulin deficiency. (4995345)
1971
47
Familial thyroxine-binding globulin deficiency. (4987801)
1970
48
Partial thyroxine-binding globulin deficiency in a family. (4981400)
1969
49
Familial thyroxine-binding globulin deficiency. (4966620)
1968
50
X-chromosome linked inheritance of thyroxine-binding globulin deficiency. (4965464)
1967

Genetic Variations for Thyroxine-Binding Globulin Deficiency

Expression for genes affiliated with Thyroxine-Binding Globulin Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thyroxine-Binding Globulin Deficiency

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

Pathways for genes affiliated with Thyroxine-Binding Globulin Deficiency

Compounds for genes affiliated with Thyroxine-Binding Globulin Deficiency

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 29IUPHAR, 11DrugBank, 2BitterDB, 60Tocris Bioscience
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Compounds related to Thyroxine-Binding Globulin Deficiency according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1iodine45 2410.4TG, SERPINA7
2amiodarone45 50 29 1112.4TG, SERPINA7
3125i459.4TG, SERPINA7
4iodide45 2410.4TG, SERPINA7
5methimazole45 2 1111.4SERPINA7, TG
6triiodothyronine459.4TG, SERPINA7
7sodium dodecylsulfate459.4TG, SERPINA7
8sialic acid459.3TG, SERPINA7
9thyroxine45 2410.3SERPINA7, TG
10vitamin a45 11 2411.3TG, SERPINA7
11ribonucleic acid459.2TG, SERPINA7
12creatinine459.2TG, SERPINA7
13aspartate459.1SERPINA7, TG
14alanine459.1TG, SERPINA7
15testosterone45 60 11 2412.0TG, SERPINA7
16arginine458.8TG, SERPINA7

GO Terms for genes affiliated with Thyroxine-Binding Globulin Deficiency

Sources:
16Gene Ontology
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Cellular components related to Thyroxine-Binding Globulin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1TG, SERPINA7

Products for genes affiliated with Thyroxine-Binding Globulin Deficiency

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  • Proteins
  • Lysates
  • Antibodies

Sources for Thyroxine-Binding Globulin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet