MCID: THY041
MIFTS: 29

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 49 67 65
Thyroxine-Binding Globulin 11 24
 
Inherited Thyroxine-Binding Globulin Deficiency 65
Tbg Deficiency 67

Characteristics:

HPO:

61
thyroxine-binding globulin deficiency:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 314200
MedGen34 C1839141
UMLS65 C1839141, C3711378

Summaries for Thyroxine-Binding Globulin Deficiency

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UniProtKB/Swiss-Prot:67 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 reduced thyroxin-binding globulinand global developmental delay. An important gene associated with Thyroxine-Binding Globulin Deficiency is SERPINA7 (Serpin Family A Member 7). Affiliated tissues include thyroid, liver and b cells.

OMIM:49 T4-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level... (314200) more...

Wikipedia:68 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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Graphical network of the top 20 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 reduced thyroxin-binding globulin HP:0012509
2 global developmental delay HP:0001263

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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Anatomical Context for Thyroxine-Binding Globulin Deficiency

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

33
Thyroid, Liver, B cells, Kidney, Skin, T cells, 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 61)
idTitleAuthorsYear
1
Mitomycin-treated undifferentiated embryonic stem cells as a safe and effective therapeutic strategy in a mouse model of Parkinson's disease. (25904842)
2015
2
Expression of SIRT2 and SIRT6 in retinoblastoma. (25660418)
2015
3
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population. (26383609)
2015
4
A case of post-transplant adult T-cell leukemia/lymphoma presenting myelopathy similar to but distinct from human T-cell leukemia virus type I (HTLV- I)-associated myelopathy. (25332881)
2014
5
Complication of chickenpox infection without skin rashes. (24757939)
2014
6
Botulinum toxin and blink rate in patients with blepharospasm and increased blinking. (24963123)
2014
7
Synchronous splenectomy and hepatectomy in patients with hepatocellular carcinoma, hypersplenism and liver cirrhosis. (25513097)
2014
8
A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis. (24060273)
2013
9
Relationship between SATB1 expression and prognosis in astrocytoma. (23317753)
2013
10
Cleaved/associated TLR3 represents the primary form of the signaling receptor. (23255358)
2013
11
Predicting response to anti-interleukin 12/23 treatment in psoriasis. (23941250)
2013
12
Platelet-derived growth factor receptor I+ (PDGFRI+)-expressing "fibroblast-like cells" in diabetic and idiopathic gastroparesis of humans. (22650155)
2012
13
Angiotensin receptor blockade increases pancreatic insulin secretion and decreases glucose intolerance during glucose supplementation in a model of metabolic syndrome. (22355070)
2012
14
Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. (23226254)
2012
15
Phylogenetic analysis of murine leukemia virus sequences from longitudinally sampled chronic fatigue syndrome patients suggests PCR contamination rather than viral evolution. (21849443)
2011
16
Both-sided large abdominoscrotal hydrocele associated with testicles atrophy. (21776885)
2011
17
Adenovirus sequesters phosphorylated STAT1 at viral replication centers and inhibits STAT dephosphorylation. (21593149)
2011
18
Gonadotrophin-responsiveness of granulosa cells from bone morphogenetic protein 15 heterozygous mutant sheep. (19535491)
2009
19
The Stimulation of CD147 Induces MMP-9 Expression through ERK and NF-kappaB in Macrophages: Implication for Atherosclerosis. (20107538)
2009
20
Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (19578796)
2009
21
Transient receptor potential type vanilloid 1 suppresses skin carcinogenesis. (19155296)
2009
22
Long-acting local anesthetics attenuate FMLP-induced acute lung injury in rats. (19690261)
2009
23
Pre-operative renal function and selective renal vein renin levels as markers of favourable outcome in renovascular hypertension. (18062531)
2007
24
Selective testing criteria for gonorrhea among young women screened for Chlamydial infection: contribution of race and geographic prevalence. (17674316)
2007
25
Diversity in the neural circuitry of cold sensing revealed by genetic axonal labeling of transient receptor potential melastatin 8 neurons. (18094254)
2007
26
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. (16372320)
2006
27
Effect of calcium hydroxide-treated Prevotella nigrescens on the gene expression of matrix metalloproteinase and its inhibitor in MG63 cells. (17174669)
2006
28
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
29
NaSi-1 and Sat-1: structure, function and transcriptional regulation of two genes encoding renal proximal tubular sulfate transporters. (15833267)
2005
30
X-linked agammaglobulinemia: a survey of 33 Iranian patients. (15015835)
2004
31
Anaesthetic management of coronary artery bypass grafting in a patient with central core disease and susceptibility to malignant hyperthermia on statin therapy. (14570802)
2003
32
Screening and prevention of congenital toxoplasmosis: an effectiveness study in a population with a high infection rate. (15061319)
2003
33
Functional interaction of G protein-coupled receptors of the adrenomedullin peptide family with accessory receptor-activity-modifying proteins (RAMP). (11921352)
2002
34
Acute rheumatic fever: whither steroids? (12462662)
2002
35
Inflammatory cytokine regulation of TRAIL-mediated apoptosis in thyroid epithelial cells. (11859410)
2002
36
Increases in leptin levels, sympathetic drive, and weight gain in obstructive sleep apnea. (10899061)
2000
37
Endocrine cells in colorectal carcinomas. Immunohistochemical study. (11247395)
2000
38
Reduction of sympathetic hyperactivity by enalapril in patients with chronic renal failure. (10219067)
1999
39
Effect of DNA polymerases and high mobility group protein 1 on the carrier ligand specificity for translesion synthesis past platinum-DNA adducts. (10460158)
1999
40
Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome. (10215790)
1999
41
Coagulation studies, factor V Leiden, and anticardiolipin antibodies in 40 cases of cerebral venous thrombosis. (8841318)
1996
42
Chromosomal mapping of the human M6 genes. (8661015)
1996
43
Gas gangrene: potential for hyperbaric oxygen therapy. (8604409)
1996
44
Hypothesis: spermine may be an important epidermal antioxidant. (8524182)
1995
45
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
46
Pharmacological properties of the ornithine decarboxylase inhibitor 3-aminooxy-1-propanamine and several structural analogues. (8462122)
1993
47
Allelic variants of the human putative peptide transporter involved in antigen processing. (1570316)
1992
48
A destructive discovertebral lesion: septic discitis, ankylosing spondylitis, or rheumatoid arthritis? (2527109)
1989
49
Aleukemic leukemia cutis. (3729513)
1986
50
The oldest patient with Capgras syndrome? (3830335)
1985

Variations for Thyroxine-Binding Globulin Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1SERPINA7p.Ser43ThrVAR_007102
2SERPINA7p.Ile116AsnVAR_007103rs28933689
3SERPINA7p.Ala133ProVAR_007104rs28933688
4SERPINA7p.Leu247ProVAR_007107rs28937312
5SERPINA7p.His351TyrVAR_007109
6SERPINA7p.Pro383LeuVAR_007110

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet