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 UNIPROT Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. 9398746 1997
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. 9349581 1997
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease UNIPROT Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. 9589634 1998
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 Biomarker disease CTD_human
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 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 UNIPROT Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. 11081252 2000
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 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 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 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 Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. 9360555 1997
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 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 GeneticVariation disease UNIPROT A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. 8964822 1996
CUI: C1836706
Disease: Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Nonautoimmune 		0.800 GeneticVariation disease BEFREE Neonates with persistent nonautoimmune hyperthyroidism should be investigated for TSHR germline mutations. 9360555 1997
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 GeneticVariation disease BEFREE To date, seven cases of familial and six cases of sporadic nonautoimmune hyperthyroidism have been described associated with 13 different TSHR germline mutations, with a variable clinical course. 10482366 1999
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 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 Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. 16187920 2005