Disease: Familial Testotoxicosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Activating mutations in the luteinizing hormone receptor gene (LHCGR) cause high autonomous testosterone secretion, resulting in early-onset peripheral precocious puberty. 29029242 2017
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Activating mutations in LHCGR cause familial male-limited precocious puberty (FMPP). 28339861 2017
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). 26831561 2015
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). 26831561 2015
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE To generate a mouse model for the human disease, we have introduced an aspartic acid to glycine mutation in amino acid residue 582 (D582G) of the mouse LHR gene corresponding to the most common D578G mutation found in boys with familial male-limited precocious puberty (FMPP). 23861372 2013
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty. 21060208 2010
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Treatment of familial male-limited precocious puberty (testotoxicosis) with anastrozole and bicalutamide in a boy with a novel mutation in the luteinizing hormone receptor. 20333877 2009
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human Update on the etiology, diagnosis and therapeutic management of sexual precocity. 18345393 2008
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty. 19209621 2008
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 Biomarker disease CTD_human Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation. 16684832 2006
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 AlteredExpression disease BEFREE This report underscores the possibility that the effects of the mutant luteinizing hormone/choriogonadotropin receptor on phenotypic expression of FMPP, such as adult final height, are modified by other factors. 16887451 2006
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 AlteredExpression disease BEFREE Together, these analyses suggest that exon 11 of human LHCGR could be more susceptible to mutation than the other 10 exons together and that activation of LHCGR, contingent to the somatic silencing of neighbouring ALF, could be linked to male-limited precocious puberty and pre-eclampsia. 16087288 2005
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT In boys with familial male-limited precocious puberty, an activating mutation of the luteinizing hormone receptor causes Leydig cell hyperplasia, resulting in excess testosterone production. 11391350 2001
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. 11134146 2000
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix. 11134146 2000
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE In the present study, we analyzed the LH-R gene in members of a Japanese FMPP family. 11228053 2000
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 AlteredExpression disease BEFREE Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). 10704433 2000
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity. 9973550 1999
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 9661624 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. 9661624 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty. 9467560 1998
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE We describe a Japanese patient with male-limited precocious puberty who has a heterozygous thymine to cytosine (T to C) transition at nucleotide 1193; the mutation encodes a methionine to threonine substitution in residue 398 (M398T) of transmembrane helix 2 of the luteinizing hormone/choriogonadotropin receptor. 8607787 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty. 8829636 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease UNIPROT A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype. 8929952 1996
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.800 GeneticVariation disease BEFREE Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty. 8812739 1996