TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Thyrotoxicosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE We report here a case of alemtuzumab-induced thyroid disease in a female patient who showed a phase of thyrotoxicosis with positive anti-thyroglobulin (anti-Tg) and anti-thyroid peroxidase (TPO) antibodies, but a negative TSH receptor antibody, spontaneously followed by hypothyroidism. 30968726 2019
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE POSITIVE THYROTROPIN RECEPTOR ANTIBODIES IN PATIENTS WITH TRANSIENT THYROTOXICOSIS. 29624097 2018
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE For four women, these goiters were secondary to fetal dyshormonogenesis, for 9 more to Graves disease with TSH receptor antibodies (TRAb), and for four women to thyrotoxicosis at the start of pregnancy, managed by synthetic antithyroid drugs (ATD). 30513035 2018
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis. 28195550 2017
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 AlteredExpression disease BEFREE Abnormal thyroid function studies and an elevated thyroid-stimulating hormone receptor antibody level confirmed the diagnosis of Graves thyrotoxicosis. 26181502 2017
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE Although rare, TSHR mutations should be considered in an infant presenting with thyrotoxicosis in absence of demonstrable TSHR antibodies in serum. 18558604 2009
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE In conclusion, our data indicate that gain of function germline mutations in the TSHr gene should be investigated in families with members suffering from thyrotoxicosis and progressive growth of goiter, but without clinical and biochemical evidence of autoimmune thyroid disease. 18175146 2008
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. 18466076 2008
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease LHGDN A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. 18466076 2008
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE Although the overall rate of thyrotoxicosis in the mice was < 10%, anti-TSH receptor antibodies could be detected in many animals by flow cytometry, radioreceptor assay, and functional bioassays using recombinant human TSH receptor. 17293446 2007
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE Prevalence of germline mutations in the TSH receptor gene as a cause of juvenile thyrotoxicosis. 15384882 2004
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A heterozygous germline mutation of the TSHR gene resulting in the substitution of serine (AGC) by asparagine (AAC) at codon 505 (S505N) was found, which co-segregated with thyrotoxicosis in the family. 15163335 2004
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE Clinical thyrotoxicosis is directly caused by autoantibodies that activate the thyrotropin receptor (TSHR). 12813025 2003
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A novel heterozygous germline mutation (ATG --> GTG; Met463Val) was identified in the second membrane spanning TSHR region in 6 relatives with thyrotoxicosis and goiter and absence of TSHR antibodies. 11201847 2000
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. 10095169 1999
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. 10199795 1999
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. 10560955 1999
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE A Val 677 activating mutation of the thyrotropin receptor in a Hürthle cell thyroid carcinoma associated with thyrotoxicosis. 10037070 1999
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 GeneticVariation disease BEFREE Activating mutations of TSH-R have been described in toxic nodules and more recently in familial nonautoimmune thyrotoxicosis. 9167947 1997
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease CTD_human Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. 9062474 1997
CUI: C0040156
Disease: Thyrotoxicosis
Thyrotoxicosis 		0.400 Biomarker disease BEFREE Nucleotide sequence analysis of PCR fragments corresponding to the TSH-receptor (TSHR) amplified from genomic DNA collected from the four members of a family, two of which had Graves' thyrotoxicosis, revealed a nucleotide substitution in the first position of codon 36 of the TSH-receptor gene in the two patients. 7556878 1995