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
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 GeneticVariation disease UNIPROT Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). 25670821 2015
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 GeneticVariation disease UNIPROT A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 GeneticVariation disease UNIPROT Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients. 24969835 2014
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 GeneticVariation disease UNIPROT A mutation in the thyroid hormone receptor alpha gene. 22168587 2012
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 Biomarker disease GENOMICS_ENGLAND Clinical phenotype and mutant TRα1. 22494134 2012
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 Biomarker disease CTD_human
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 CausalMutation disease CLINVAR
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia. 30760120 2019
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Indeed, the recent discovery of a number of human patients carrying heterozygous mutations in the THRA gene (RTHα) revealed a distinct phenotype that was not observed in RTH patients with THRB gene mutations (RTHβ). 30595106 2019
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance. 30747412 2019
Generalized Thyroid Hormone Resistance
0.400 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
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Resistance to thyroid hormone due to THRA mutations (RTHα) is a recently discovered genetic disease, displaying important variability in its clinical presentation. 29205102 2018
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Heterozygous mutations in the thyroid hormone receptor alpha (THRA) gene cause resistance to thyroid hormone alpha (RTHα), a disease characterized by variable manifestations reminiscent of untreated congenital hypothyroidism but a raised triiodothyronine/thyroxine ratio and normal thyrotropin levels. 27809680 2017
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins. 28471274 2017
Generalized Thyroid Hormone Resistance
0.400 Biomarker disease BEFREE Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis. 28911146 2017
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Scope of this review: This review describes the clinical and biochemical characteristics of patients with resistance to thyroid hormone alpha (RTHα) due to heterozygous mutations in THRA. 28527577 2017
CUI: C0009806
Disease: Constipation
Constipation
0.400 Biomarker phenotype GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
0.400 Biomarker phenotype GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified. 26782358 2016
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Hippocampal Transcriptome Profile of Persistent Memory Rescue in a Mouse Model of THRA1 Mutation-Mediated Resistance to Thyroid Hormone. 26743578 2016
Generalized Thyroid Hormone Resistance
0.400 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone. 26037512 2015
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Only recently have mutations in the thyroid hormone receptor α gene (THRA) been identified causing a new form of RTH, RTHα. 25231448 2014
Generalized Thyroid Hormone Resistance
0.400 GeneticVariation disease BEFREE Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. 8954015 1996