TSHR, thyroid stimulating hormone receptor, 7253

N. diseases: 250; N. variants: 77
Disease: Hyperthyroidism, Nonautoimmune ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE The prevalence of nonautoimmune hyperthyroidism with TSH receptor mutations is lower than that of latent Graves' disease in TRAb-negative patients with hyperthyroidism. 24279482 2014
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 Biomarker disease BEFREE Here we describe the molecular mechanism of constitutive TSH receptor (TSHR) activation in an Austrian family with three generations of familial nonautoimmune hyperthyroidism. 24947036 2014
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GermlineCausalMutation disease ORPHANET A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7. 24947036 2014
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause of familial or sporadic congenital nonautoimmune hyperthyroidism (OMIM: 609152) (Nat Genet 7:396-401, 1994; N Engl J Med 332:150-154, 1995; Acta Endocrinol (Copenh) 100:512-518, 1982). 22371259 2012
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GermlineCausalMutation disease ORPHANET Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene. 23295291 2012
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. 21190443 2011
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity. 20929407 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Here we report a male infant with nonautoimmune hyperthyroidism due to an activating germline TSHR mutation (A623V), whose clinical picture started in the newborn period with severe hyperthyroidism. 21274318 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Germline activating mutations of the thyrotropin receptor (TSHR) gene have been considered as the only known cause of sporadic nonautoimmune hyperthyroidism in the pediatric population. 20146656 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas. 20846293 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE We report a patient in whom a TSHR mutation leads to nonautoimmune hyperthyroidism due to a mutation that constitutively activates the Gs signaling pathway but additionally completely inhibits the Gq/11 pathway. 20501679 2010
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. 18466076 2008
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Constitutively activating germline mutations of the thyrotropin receptor (TSHR) gene have been identified as a molecular cause of hereditary nonautoimmune hyperthyroidism. 18025759 2007
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Hereditary (familial) nonautoimmune hyperthyroidism (FNAH) is caused by activating thyroid-stimulating hormone (thyrotropin) receptor (TSHR) germline mutations. 17696839 2007
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Here we report a novel constitutive active mutation (M626I) in TM6 of the TSH receptor (TSHR), identified in affected members of a family with nonautoimmune hyperthyroidism. 16339276 2006
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE To our knowledge, this is the first report of a germline mutation of TSHR causing sporadic congenital nonautoimmune hyperthyroidism in a Japanese patient. 16960398 2006
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. 16756474 2006
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. 16187920 2005
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). 16260895 2005
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE A review of all previously reported cases of NAH due to an activating TSHR germline mutation showed that the mean duration of gestation in these patients was significantly lower than in patients with inactivating TSHR mutations causing congenital hypothyroidism (35.8 weeks vs. 39.4 weeks, P = 0.003). 15163335 2004
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. 15163335 2004
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. 11517004 2001
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. 11549687 2001
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. 11549687 2001
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. 11081252 2000