TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease HPO
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE Hyperthyroidism occurs due to the presence of stimulating TSHR-autoantibodies (TRAbs) leading to increased serum levels of thyroid hormones. 23613015 2013
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice. 30132406 2018
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE TSH receptor (TSHR) antibodies and hyperthyroidism are induced by immunizing mice with adenovirus encoding the TSHR or its A-subunit. 18927213 2009
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE TSH receptor antibody testing should be considered in pregnant women with any history of autoimmune thyroid disease and symptoms of fetal hyperthyroidism. 27813690 2017
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A 30-year-old female presented with overt hyperthyroidism and negative thyroid-stimulating hormone receptor antibodies (TRAbs). 30897565 2019
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A complex interaction between genetic and environmental factors is the proposed cause which triggers immune system to produce autoantibodies stimulating the TSH receptor, leading to clinical manifestations such as hyperthyroidism, diffuse thyroid enlargement (goiter) and often ophthalmopathy in affected individuals. 29890310 2018
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A higher baseline TSH-receptor antibody titre corresponded to a greater improvement in exercise capacity (r=0.76, p<0.05) and physical quality of life (r=0.73, p<0.05) on resolution of the hyperthyroidism. 28025026 2017
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A low-molecular-weight antagonist for the human thyrotropin receptor with therapeutic potential for hyperthyroidism. 18669595 2008
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE A more intense signal was observed in toxic adenomas and in samples obtained from a patient with severe hyperthyroidism due to an activating mutation in the TSH receptor. 9225730 1997
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease CTD_human A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 8964822 1996
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease LHGDN A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation. 17696839 2007
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease LHGDN A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. 16756474 2006
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism. 11128715 2000
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A recent study on TSH receptor (TSHR) null mice suggested that skeletal loss occurring in hyperthyroidism is caused by the low TSH rather than high thyroid hormone levels. 17656602 2007
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE A T cell line established from a mouse with hyperthyroidism proliferates in response to fibroblasts expressing a class II molecule and TSHR, but not to the fibroblasts expressing only TSHR, indicating that the class II molecules on the fibroblasts present TSHR-derived peptide(s) to T cells. 11129118 2000
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE Activating TSHR mutations are a rare cause of nonautoimmune adult hyperthyroidism. 30372544 2019
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. 28648513 2017
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE Although TSH-receptor autoantibodies (TRAb) were negative, the persistence of hyperthyroidism, the hypervascular pattern at thyroid ultrasound, and the high uptake at thyroid scintigraphy were all features suggestive of Graves' disease. 31602361 2019
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE Although hereditary nonautoimmune overt hyperthyroidism is very rare, TSHR activating mutations as a cause of subclinical hyperthyroidism may be more common and should be considered in the differential diagnosis, especially if familial. 20929407 2010
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE Among them, two patients (patient 1 and 4) were hyperthyroid and TSH receptor antibody (TRAb) positive, two patients (patient 3 and 5) were euthyroid and displayed slightly elevated TRAb titres, one patient (patient 2) was euthyroid and TRAb negative. 29381976 2017
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE An identical germline TSH-R mutation was detected in all the patients with hyperthyroidism but in none of the unaffected family members. 12240901 2002
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease LHGDN An identical germline TSH-R mutation was detected in all the patients with hyperthyroidism but in none of the unaffected family members. 12240901 2002
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 GeneticVariation disease BEFREE Based on a literature search regarding all published TSHR mutations, this review covers several mutations which are clearly associated with a hyperthyroidism-phenotype, but interestingly show a lack of constitutive activity determined by in vitro characterization. 24845969 2014
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism
0.500 Biomarker disease BEFREE Because Graves' hyperthyroidism is preferentially induced in BALB/c mice using adenovirus encoding the free A-subunit rather than full-length human TSHR, the shed A-subunit appears to drive the disease-associated autoimmune response. 16365463 2006