KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
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 Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. 30635063 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 Biomarker disease BEFREE Consequently, the loss function of kisspeptin or GPR54 leads to a symptom of Hypogonadotropic Hypogonadism (HH) in human and HH accompanied by lower gonadotrophic hormone levels, smaller testes, impaired spermatogenesis and abnormal sexual maturation in mice. 29380696 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE In 2003, inactivating mutations of Kiss1R gene were first associated to lack of pubertal maturation and hypogonadotropic hypogonadism in humans and rodents. 29678280 2018
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Inactivating and activating mutations in both KISS1 or GPR54 genes were associated with hypogonadotropic hypogonadism and precocious puberty. 30205368 2018
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Altogether, this study shows that a heterozygous insertion in KISS1R may lead to hypogonadotropic hypogonadism by a dominant negative effect on the WT receptor. 23608644 2013
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia. 22619348 2012
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Inactivating GPR54 mutations cause hypogonadotropic hypogonadism in humans. 20672907 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. 21193544 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Kisspeptin-GPR54 signaling has been implicated in the regulation of pubertal and adulthood gonadotropin-releasing hormone (GnRH) secretion, and mutations or deletions of GPR54 cause hypogonadotropic hypogonadism in humans and mice. 17699664 2007
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Loss-of-function mutations in its receptor, GPR54, were found to cause absence of puberty and hypogonadotropic hypogonadism in humans. 17710729 2007
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 Despite its prismatic role, few patients with mutations in GPR54 and the phenotype of hypogonadotropic hypogonadism have been described. 16757106 2006
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.100 GeneticVariation disease BEFREE Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 15598687 2005