THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease BEFREE Thyroid hormone receptor alpha plays an essential role in the normalisation of adult-onset hypothyroidism-related hypoexpression of synaptic plasticity target genes in striatum. 19094093 2009
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease BEFREE In patients with clinical symptoms of mild hypothyreosis without confirmation in endocrine studies, a molecular study of THRA defects is strongly recommended. 25670821 2015
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 GeneticVariation disease BEFREE Hypothyroidism due to THRA1 (gene coding for thyroid hormone receptor α1) mutation-mediated Resistance to Thyroid Hormone (RTH) has been recently reported in human and is associated with memory deficits similar to those found in a mouse model for Thra1 mutation mediated RTH (Thra1(+/m) mice). 26743578 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease BEFREE On this basis, specific issues of special interest for cardiology are discussed, namely (1) relevance of the regulation of proteins involved in the control of calcium homeostasis and in pacemaker cell activity, due to non-genomic as well as to classical genomic effects; (2) stimulation of fatty acid oxidation by T2 and T1AM, the latter also causing a negative inotropic and chronotropic action at micromolar concentrations; (3) induction of D3 deiodinase in heart failure, potentially causing selective cardiac hypothyroidism, whose clinical implications are still controversial; and (4) cardioprotective effect of T1AM, possibly occurring at physiological concentrations, and relevance of T3 and of thyroid hormone receptor α1 in post-infarction repair. 27115768 2016
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease BEFREE The present study, therefore, is designed to examine the effect of neonatal hypothyroidism on prepubertal Parkes (P) strain mice testis in relation to thyroid hormone receptor alpha 1 (THRα1). 27519547 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 AlteredExpression disease BEFREE Regarding the modulation of gene expression in the testis, hypothyroidism increased the expression of Thra1 and decreased the expression of Dio3, and hyperthyroidism increased the expression of Slc16a2. 27066791 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 GeneticVariation disease BEFREE Despite heterogeneous consequences of mutations in THRA, RTHα should be suspected in subjects with even mild clinical features of hypothyroidism together with high/high-normal (F)T3, low/low-normal (F)T4, and normal TSH. 28527577 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 GeneticVariation disease BEFREE Patients with mutations of the THRA gene exhibit classical features of hypothyroidism, including erythroid disorders. 28910278 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 GeneticVariation disease BEFREE A severe phenotype characteristic of hypothyroidism occurs in children with resistance to thyroid hormone due to mutations affecting THRA encoding thyroid hormone receptor α (TRα). 28853052 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 GeneticVariation disease BEFREE Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. 30747412 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.200 Biomarker disease BEFREE Similar to that found in hypothyroidism or TRα deficiency during the juvenile period, the B-cell population is reduced in the spleen and bone marrow of ageing TRα1/TRβ-knockout mice, suggesting that TRβ does not play a major role in B-cell development. 31585438 2020