Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. 28485664 2017
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. 26572316 2016
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 Biomarker disease BEFREE GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH. 26680571 2016
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Sequencing of the GNRHR gene in patients with HH revealed mainly point mutations producing single amino acid substitutions that cause misfolding and misrouting of this G protein-coupled receptor. 22918878 2012
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Biochemical mechanism of pathogenesis of human gonadotropin-releasing hormone receptor mutants Thr104Ile and Tyr108Cys associated with familial hypogonadotropic hypogonadism. 21277937 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling. 21717411 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Partial hypogonadotropic hypogonadism associated with the Leu266Arg and Gln106Arg mutation of the gonadotropin-releasing hormone receptor. 19449676 2009
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism. 17074994 2006
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene. 17179725 2006
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism. 16868131 2006
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Kallman syndrome 1 (KAL-1) gene analysis was performed in all patients and the gonadotrophin releasing hormone receptor (GnRH-R) gene was investigated in nHH patients using PCR analysis with exon-flanking primers followed by automated sequencing techniques. 16423815 2005
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism. 16213849 2005
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE GnRHR mutants isolated from patients with hypogonadotropic hypogonadism (HH) are frequently mislocalized proteins that can be restored to function by pharmacological chaperones. 15105440 2004
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE GnRH receptor mutations may account for a larger proportion of cases of HH than previously thought. 12568864 2003
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE It should not have been surprising, in retrospect, to find that even a single amino acid mutation dramatically alters protein function or routing because increased plasma membrane expression is associated with deletion of a single amino acid in the human GnRHR (K191), and point mutations have been shown to block plasma membrane routing of many receptors, including most of those responsible for the hypogonadotropic hypogonadism phenotype. 14671217 2003
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor. 12477532 2002
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in the human GnRH receptor (hGnRHR) gene have been reported in families with hypogonadotropic hypogonadism. 11994356 2002
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 AlteredExpression disease BEFREE Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target. 12107234 2002
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Alterations in the GnRH receptor determine hypogonadotropic hypogonadism. 11420132 2001
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 11397871 2001
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE These patients have genomic mutations in the gene for the GnRHR and represent the first individuals with hypogonadotropic hypogonadism of autosomal inheritance. 11299515 2000
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism. 10714361 2000
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE GnRH receptor mutations have recently been identified in a small number of familial cases of nonanosmic hypogonadotropic hypogonadism. 10690855 2000
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 10999776 2000
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE In conclusion, we report the first mutation of the GnRH-R gene that can induce a total loss of function of this receptor and is associated with a phenotype of complete hypogonadotropic hypogonadism. 10523035 1999