MCID: THY041
MIFTS: 22

Thyroxine-Binding Globulin Deficiency malady

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Summaries for Thyroxine-Binding Globulin Deficiency

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Wikipedia:65 Thyroxine-binding globulin (TBG) binds thyroid hormone in circulation. It is one of three proteins... more...

MalaCards based summary: Thyroxine-Binding Globulin Deficiency is related to hypothyroidism and thyroiditis, and has symptoms including 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:46 314200

Aliases & Classifications for Thyroxine-Binding Globulin Deficiency

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Thyroxine-Binding Globulin Deficiency, Aliases & Descriptions:

Name: Thyroxine-Binding Globulin Deficiency 46 62


Related Diseases for Thyroxine-Binding Globulin Deficiency

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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
2thyroiditis10.8
3inherited thyroxine-binding globulin deficiency10.8
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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Symptoms by clinical synopsis from OMIM:

314200

Clinical features from OMIM:

314200

HPO human phenotypes related to Thyroxine-Binding Globulin Deficiency:

id Description Frequency HPO Source Accession
1 global developmental delay HP:0001263
2 x-linked recessive inheritance HP:0001419
3 reduced thyroxin-binding globulin HP:0012509

Drugs & Therapeutics for Thyroxine-Binding Globulin Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for Thyroxine-Binding Globulin Deficiency

Genetic Tests for Thyroxine-Binding Globulin Deficiency

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Anatomical Context for Thyroxine-Binding Globulin Deficiency

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

32
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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Articles related to Thyroxine-Binding Globulin Deficiency:

(show top 50)    (show all 59)
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
Genetics and clinical significance of thyroxine binding globulin deficiency, an analysis of seven families. (3923758)
1985
20
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
1983
21
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. (6808051)
1982
22
Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase. (6167443)
1981
23
Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
1981
24
Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
1981
25
Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
1981
26
Familial thyroxine-binding globulin deficiency in association with non-toxic goitre. (110022)
1979
27
Thyroxine-binding globulin deficiency in Beckwith syndrome. (114616)
1979
28
Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
1979
29
Thyroxine-binding globulin deficiency: innocent cause of low serum thyroxine (T4) levels. (100751)
1978
30
Thyroxine binding globulin deficiency which mimics neonatal hypothyroidism. (418318)
1978
31
Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia. (192498)
1977
32
Growth retardation and familial thyroxine-binding globulin deficiency. (71932)
1977
33
Increased free thyroxine in a euthyroid patient with thyroxine-binding globulin deficiency. (816806)
1976
34
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency. (828576)
1976
35
Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. (56342)
1976
36
Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
1975
37
Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups. (4214930)
1974
38
Kinetics of thyroxine and triiodothyronine in a case of thyroxine-binding globulin deficiency with hypothyroidism. (4209107)
1974
39
Familial thyroxine-binding globulin deficiency. A study of three Danish families. (4206122)
1974
40
Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci. (4197606)
1973
41
Growth pattern in a boy with thyroxine-binding globulin deficiency. (4623427)
1972
42
Thyroxine-binding globulin deficiency and associated neurological deficit. (4627386)
1972
43
Familial partial thyroxine-binding globulin deficiency. (5003150)
1971
44
Thyroxine-binding globulin deficiency in three families, and total deficiency in a normal woman. (4102085)
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
Human thyroxine-binding globulin deficiency. A genetic study. (4957281)
1966

Variations for Thyroxine-Binding Globulin Deficiency

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Expression for genes affiliated with Thyroxine-Binding Globulin Deficiency

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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
  • Proteins
  • Lysates

Sources for Thyroxine-Binding Globulin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet