MCID: THY041
MIFTS: 22

Thyroxine-Binding Globulin Deficiency malady

Summaries for Thyroxine-Binding Globulin Deficiency

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Thyroxine-binding globulin (TBG) binds thyroid hormone in circulation. It is one of three proteins... more...

MalaCards: Thyroxine-Binding Globulin Deficiency is related to hypothyroidism and thyroiditis. An important gene associated with Thyroxine-Binding Globulin Deficiency is SERPINA7 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7). Affiliated tissues include thyroid, liver and testes.

Description from OMIM:48 314200

Aliases & Classifications for Thyroxine-Binding Globulin Deficiency

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48OMIM, 63UMLS
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Aliases & Descriptions:

thyroxine-binding globulin deficiency 48 63


Related Diseases for Thyroxine-Binding Globulin Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Thyroxine-Binding Globulin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism10.8
2thyroiditis10.7
3inherited thyroxine-binding globulin deficiency10.7
4congenital hypothyroidism10.5
5graves' disease10.5
6hyperthyroidism10.5
7congenital isolated thyroxine-binding globulin deficiency10.5
8growth hormone deficiency10.3
9neonatal hypothyroidism10.3
10isolated growth hormone deficiency10.3

Graphical network of diseases related to Thyroxine-Binding Globulin Deficiency:



Diseases related to thyroxine-binding globulin deficiency

Symptoms for Thyroxine-Binding Globulin Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

314200

Clinical features from OMIM:

314200

Drugs & Therapeutics for Thyroxine-Binding Globulin Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Thyroxine-Binding Globulin Deficiency

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Anatomical Context for Thyroxine-Binding Globulin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Thyroxine-Binding Globulin Deficiency:

34
Thyroid, Liver, Testes

Animal Models for Thyroxine-Binding Globulin Deficiency or affiliated genes

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Publications for Thyroxine-Binding Globulin Deficiency

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53PubMed
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Articles related to Thyroxine-Binding Globulin Deficiency:

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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
Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests]. (11419101)
2001
4
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. (10429016)
1999
5
Type II glycogenosis and thyroxine binding globulin deficiency in the same family. (8765758)
1996
6
Congenital thyroxine-binding globulin deficiency detected by newborn screening for hypothyroidism. (17429279)
1996
7
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. (7647413)
1995
8
Iatrogenic hyperthyroidism of long duration in an individual with thyroxine-binding globulin deficiency. (7988024)
1994
9
Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family. (8077354)
1994
10
Thyroxine-binding globulin deficiency detected by newborn screening. (8429435)
1993
11
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
12
Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis. (8495048)
1993
13
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. (1906892)
1991
14
Graves' disease and thyroxine-binding globulin deficiency. (3132126)
1988
15
Thyroxine-binding globulin deficiency re-examined. (3139334)
1988
16
Congenital thyroxine binding globulin deficiency: incidence and inheritance. (3114125)
1987
17
A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio. (3091890)
1986
18
Primary thyroid failure with concomitant thyroxine binding globulin deficiency. (3921099)
1985
19
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
1983
20
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. (6808051)
1982
21
Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase. (6167443)
1981
22
Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
1981
23
Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
1981
24
Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
1981
25
Familial thyroxine-binding globulin deficiency in association with non-toxic goitre. (110022)
1979
26
Thyroxine-binding globulin deficiency in Beckwith syndrome. (114616)
1979
27
Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
1979
28
Thyroxine-binding globulin deficiency: innocent cause of low serum thyroxine (T4) levels. (100751)
1978
29
Thyroxine binding globulin deficiency which mimics neonatal hypothyroidism. (418318)
1978
30
Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia. (192498)
1977
31
Growth retardation and familial thyroxine-binding globulin deficiency. (71932)
1977
32
Increased free thyroxine in a euthyroid patient with thyroxine-binding globulin deficiency. (816806)
1976
33
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency. (828576)
1976
34
Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. (56342)
1976
35
Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
1975
36
Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups. (4214930)
1974
37
Kinetics of thyroxine and triiodothyronine in a case of thyroxine-binding globulin deficiency with hypothyroidism. (4209107)
1974
38
Familial thyroxine-binding globulin deficiency. A study of three Danish families. (4206122)
1974
39
Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci. (4197606)
1973
40
Growth pattern in a boy with thyroxine-binding globulin deficiency. (4623427)
1972
41
Thyroxine-binding globulin deficiency and associated neurological deficit. (4627386)
1972
42
Familial partial thyroxine-binding globulin deficiency. (5003150)
1971
43
Thyroxine-binding globulin deficiency in three families, and total deficiency in a normal woman. (4102085)
1971
44
Growth retardation and thyroxine-binding globulin deficiency. (4995345)
1971
45
Familial thyroxine-binding globulin deficiency. (4987801)
1970
46
Thyroxine binding globulin deficiency. Constitutional growth retardation erroneously diagnosed as isolated thyrotropin deficiency. (4182951)
1969
47
Partial thyroxine-binding globulin deficiency in a family. (4981400)
1969
48
Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. (4171474)
1968
49
Familial thyroxine-binding globulin deficiency. (4966620)
1968
50
X-chromosome linked inheritance of thyroxine-binding globulin deficiency. (4965464)
1967

Variations for Thyroxine-Binding Globulin Deficiency

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Expression for genes affiliated with Thyroxine-Binding Globulin Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thyroxine-Binding Globulin Deficiency

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Pathways for genes affiliated with Thyroxine-Binding Globulin Deficiency

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Compounds for genes affiliated with Thyroxine-Binding Globulin Deficiency

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GO Terms for genes affiliated with Thyroxine-Binding Globulin Deficiency

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Products for genes affiliated with Thyroxine-Binding Globulin Deficiency

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  • Antibodies
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Sources for Thyroxine-Binding Globulin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet