MCID: THY041
MIFTS: 25

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 50 68 25 66
Thyroxine-Binding Globulin 12
 
Tbg Deficiency 68

Characteristics:

HPO:

62
thyroxine-binding globulin deficiency:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 314200
MedGen35 C1839141

Summaries for Thyroxine-Binding Globulin Deficiency

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UniProtKB/Swiss-Prot:68 Thyroxine-binding globulin deficiency: Mutations in the SERPINA7 gene can result as a whole spectrum of deficiencies, characterized by either reduced or increased TBG levels in the serum. Patients show, respectively, reduced or elevated protein-bound iodine but are euthyroid.

MalaCards based summary: Thyroxine-Binding Globulin Deficiency, also known as thyroxine-binding globulin, is related to inherited thyroxine-binding globulin deficiency and congenital isolated thyroxine-binding globulin deficiency, 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.

OMIM:50 T4-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level... (314200) more...

Wikipedia:69 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
2congenital isolated thyroxine-binding globulin deficiency12.4
3hypothyroidism10.5
4thyroiditis10.4
5congenital hypothyroidism10.2
6graves' disease10.2
7hyperthyroidism10.2
8isolated growth hormone deficiency10.0
9neonatal hypothyroidism10.0
10growth hormone deficiency10.0

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 reduced thyroxin-binding globulin 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 Deficiency25

Anatomical Context for Thyroxine-Binding Globulin Deficiency

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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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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
Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency. (10429016)
1999
6
Congenital thyroxine-binding globulin deficiency detected by newborn screening for hypothyroidism. (17429279)
1996
7
Type II glycogenosis and thyroxine binding globulin deficiency in the same family. (8765758)
1996
8
Familial thyroxine-binding globulin deficiency associated with hyperthyroidism. (7647413)
1995
9
High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. (7635701)
1995
10
Iatrogenic hyperthyroidism of long duration in an individual with thyroxine-binding globulin deficiency. (7988024)
1994
11
Thyroxine-binding globulin deficiency detected by newborn screening. (8429435)
1993
12
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
13
Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis. (8495048)
1993
14
Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. (1906892)
1991
15
Graves' disease and thyroxine-binding globulin deficiency. (3132126)
1988
16
Thyroxine-binding globulin deficiency re-examined. (3139334)
1988
17
Congenital thyroxine binding globulin deficiency: incidence and inheritance. (3114125)
1987
18
A case of total thyroxine-binding globulin deficiency with Graves' disease: fluctuations of plasma triiodothyronine/thyroxine ratio. (3091890)
1986
19
Primary thyroid failure with concomitant thyroxine binding globulin deficiency. (3921099)
1985
20
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. (6192141)
1983
21
Thyroid function in goitrous subjects with thyroxine binding globulin deficiency. (6405573)
1983
22
Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism. (6808051)
1982
23
Transient secondary hypothyroidism and thyroxine binding globulin deficiency in leukemic children during polychemotherapy: an effect of L-asparaginase. (6167443)
1981
24
Familial thyroxine-binding globulin deficiency with neurological abnormalities. (6173980)
1981
25
Thyroxine-binding globulin deficiency in early childhood. Postnatal changes in serum concentrations of thyroid hormones and thyroid hormone-binding proteins. (6785995)
1981
26
Dichotomy between serum free triiodothyronine and free thyroxine concentrations in familial thyroxine-binding globulin deficiency. (6169738)
1981
27
Familial thyroxine-binding globulin deficiency in association with non-toxic goitre. (110022)
1979
28
Thyroid function tests in thyroxine-binding globulin deficiency. (120131)
1979
29
Thyroxine-binding globulin deficiency in Beckwith syndrome. (114616)
1979
30
Thyroxine-binding globulin deficiency: innocent cause of low serum thyroxine (T4) levels. (100751)
1978
31
Serum thyrotropin response to thyrotropin-releasing hormone and free thyroid hormone indices in patients with familial thyroxine-binding globulin deficiency. (72658)
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
Normal response to thyrotrophin releasing hormone (TRH) in familial thyroxine-binding globulin deficiency. (52266)
1975
35
Familial thyroxine-binding globulin deficiency in a patient with congenital hypothyroidism. (805043)
1975
36
Study of a kindred with thyroxine-binding globulin deficiency and oligomenorrhea. (805542)
1975
37
Kinetics of thyroxine and triiodothyronine in a case of thyroxine-binding globulin deficiency with hypothyroidism. (4209107)
1974
38
Familial thyroxine-binding globulin deficiency: search for linkage with Xg blood groups. (4214930)
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
Growth retardation and thyroxine-binding globulin deficiency. (4995345)
1971
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
X-chromosome linked inheritance of thyroxine-binding globulin deficiency. (4965464)
1967

Variations for Thyroxine-Binding Globulin Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Thyroxine-Binding Globulin Deficiency:

68
id Symbol AA change Variation ID SNP ID
1SERPINA7p.Ser43ThrVAR_007102
2SERPINA7p.Ile116AsnVAR_007103rs28933689
3SERPINA7p.Ala133ProVAR_007104rs28933688
4SERPINA7p.Leu247ProVAR_007107rs28937312
5SERPINA7p.His351TyrVAR_007109rs72554659
6SERPINA7p.Pro383LeuVAR_007110rs72554658

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet