Disease: Precocious Puberty ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE He presented with precocious puberty at 10 months of age and was diagnosed with testotoxicosis due to a de novo heterozygous Asp578Tyr mutation in LHCGR. 29029242 2017
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE Testotoxicosis is a rare form of precocious puberty caused by a constitutively activating mutation in the luteinizing hormone receptor (LHR) gene. 19209621 2008
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. 16887451 2006
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 Biomarker disease BEFREE Molecular diagnostics of the LHR gene was conducted in a 5-year-old boy with clinical symptoms and hormonal profile typical of precocious puberty. 11936470 2002
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE Familial male precocious puberty is a form of precocious puberty resulting from an activating mutation of the luteinizing hormone receptor. 11288780 2001
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 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: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE We also identified the previously described Ala568Val mutation in the third intracellular loop of the LHR in the other affected African-Brazilian boy and his normal prepubertal sister, suggesting the inherited form of precocious puberty in this boy. 9661624 1998
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE Similarly, familial male precocious puberty has been linked to gain-in-function mutations that result in increased levels of cyclic adenosine monophosphate; however, these mutations are found in the luteinizing hormone receptor gene itself. 9255219 1997
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 Biomarker disease BEFREE Recent studies have identified constitutively activating missense mutations in the human luteinizing hormone receptor (hLHR) gene leading to Leydig cell activation and precocious puberty. 8812739 1996
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 AlteredExpression disease BEFREE Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. 7757065 1995
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE Recently, a single point mutation in the LH/hCG receptor (LH/CGR) gene was found in FMPP families that constitutively activates the LH/CGR, causing Leydig cell activation and precocious puberty. 7527413 1994
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 AlteredExpression disease BEFREE Testotoxicosis is a form of precocious puberty in which the Leydig cells secrete testosterone in the absence of luteinizing hormone, often due to constitutive activation of the luteinizing hormone receptor and (indirectly) Gs (refs 1-4). 8072545 1994
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 GeneticVariation disease BEFREE A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. 7692306 1993
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.200 Biomarker disease HPO