MCID: THY041
MIFTS: 20

Thyroxine-Binding Globulin Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Thyroxine-Binding Globulin Deficiency

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Aliases & Descriptions for Thyroxine-Binding Globulin Deficiency:

Name: Thyroxine-Binding Globulin Deficiency 52 27 68
 
Thyroxine-Binding Globulin 12

Characteristics:

HPO:

64
thyroxine-binding globulin deficiency:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 314200

Summaries for Thyroxine-Binding Globulin Deficiency

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OMIM:52 T4-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level... (314200) more...

MalaCards based summary: Thyroxine-Binding Globulin Deficiency, also known as thyroxine-binding globulin, is related to inherited thyroxine-binding globulin deficiency and hypothyroidism, and has symptoms including global developmental delay and reduced thyroxin-binding globulin. An important gene associated with Thyroxine-Binding Globulin Deficiency is SERPINA7 (Serpin Family A Member 7). Affiliated tissues include thyroid, liver and testes.

Wikipedia:71 Thyroxine-binding globulin (TBG) is a globulin that binds thyroid hormones in circulation. It is one of... more...

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1inherited thyroxine-binding globulin deficiency12.7
2hypothyroidism10.3
3thyroiditis10.3
4congenital hypothyroidism10.0
5graves' disease10.0
6hyperthyroidism10.0
7isolated growth hormone deficiency9.9
8growth hormone deficiency9.9
9neonatal hypothyroidism9.9

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



Diseases related to thyroxine-binding globulin deficiency

Symptoms & Phenotypes for Thyroxine-Binding Globulin Deficiency

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Symptoms by clinical synopsis from OMIM:

314200

Clinical features from OMIM:

314200

Human phenotypes related to Thyroxine-Binding Globulin Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 global developmental delay64 HP:0001263
2 reduced thyroxin-binding globulin64 HP:0012509

Drugs & Therapeutics for Thyroxine-Binding Globulin Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thyroxine-Binding Globulin Deficiency

Genetic Tests for Thyroxine-Binding Globulin Deficiency

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Genetic tests related to Thyroxine-Binding Globulin Deficiency:

id Genetic test Affiliating Genes
1 Thyroxine-Binding Globulin Deficiency27

Anatomical Context for Thyroxine-Binding Globulin Deficiency

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

36
Thyroid, Liver, Testes

Publications for Thyroxine-Binding Globulin Deficiency

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Articles related to Thyroxine-Binding Globulin Deficiency:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7. (27331012)
2016
2
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
3
A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency. (19415532)
2009
4
Hereditary thyroxin-binding globulin deficiency--changed thyroid function tests]. (11419101)
2001
5
A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. (11061524)
2000
6
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. (10429016)
1999
7
Type II glycogenosis and thyroxine binding globulin deficiency in the same family. (8765758)
1996
8
Congenital thyroxine-binding globulin deficiency detected by newborn screening for hypothyroidism. (17429279)
1996
9
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. (7647413)
1995
10
High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. (7635701)
1995
11
Iatrogenic hyperthyroidism of long duration in an individual with thyroxine-binding globulin deficiency. (7988024)
1994
12
Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family. (8077354)
1994
13
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
14
Thyroxine-binding globulin deficiency misdiagnosed as hypothyroidism. (8345439)
1993
15
Thyroxine-binding globulin deficiency detected by newborn screening. (8429435)
1993
16
Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis. (8495048)
1993
17
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
18
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. (1906892)
1991
19
Thyroxine-binding globulin deficiency re-examined. (3139334)
1988
20
Graves' disease and thyroxine-binding globulin deficiency. (3132126)
1988
21
Congenital thyroxine binding globulin deficiency: incidence and inheritance. (3114125)
1987
22
A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio. (3091890)
1986
23
Primary thyroid failure with concomitant thyroxine binding globulin deficiency. (3921099)
1985
24
Genetics and clinical significance of thyroxine binding globulin deficiency, an analysis of seven families. (3923758)
1985
25
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
1983
26
Thyroid function in goitrous subjects with thyroxine binding globulin deficiency. (6405573)
1983
27
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. (6808051)
1982
28
Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase. (6167443)
1981
29
Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
1981
30
Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
1981
31
Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
1981
32
A case of isolated growth hormone deficiency associated with familial thyroxine binding globulin deficiency. (6788542)
1981
33
Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
1979
34
Thyroxine-binding globulin deficiency in Beckwith syndrome. (114616)
1979
35
Familial thyroxine-binding globulin deficiency in association with non-toxic goitre. (110022)
1979
36
Thyroxine-binding globulin deficiency: innocent cause of low serum thyroxine (T4) levels. (100751)
1978
37
Thyroxine binding globulin deficiency which mimics neonatal hypothyroidism. (418318)
1978
38
Growth retardation and familial thyroxine-binding globulin deficiency. (71932)
1977
39
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familial thyroxine-binding globulin deficiency. (72658)
1977
40
Thyroxine binding globulin deficiency in a family with type I hyperlipoproteinaemia. (192498)
1977
41
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familiar thyroxine-binding globulin deficiency. (828576)
1976
42
Increased free thyroxine in a euthyroid patient with thyroxine-binding globulin deficiency. (816806)
1976
43
Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. (56342)
1976
44
Study of a kindred with thyroxine-binding globulin deficiency and oligomenorrhea. (805542)
1975
45
Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. (805043)
1975
46
Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
1975
47
Familial thyroxine-binding globulin deficiency. A study of three Danish families. (4206122)
1974
48
Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups. (4214930)
1974
49
Kinetics of thyroxine and triiodothyronine in a case of thyroxine-binding globulin deficiency with hypothyroidism. (4209107)
1974
50
Linkage of thyroxine-binding globulin deficiency to other X-chromosome loci. (4197606)
1973

Variations for Thyroxine-Binding Globulin Deficiency

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Expression for genes affiliated with Thyroxine-Binding Globulin Deficiency

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

Pathways 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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Sources for Thyroxine-Binding Globulin Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet