Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 Biomarker disease BEFREE In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP. 26199944 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. 18463157 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. 17235395 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE The molecular basis of IHH/KS is reviewed, with particular emphasis on the three most common genes ( KAL1, FGFR1, and GNRHR) that possess mutations in these patients. 17594608 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH). 16606836 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 Biomarker disease MGD A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. 15625238 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 GeneticVariation disease BEFREE Genes currently recognized to be involved comprise KAL (associated with X-linked-KS), the GnRH receptor (associated with resistance to GnRH therapy), DAX 1 (associated with adrenohypoplasia congenita) and three loci also associated with obesity, leptin (OB), leptin receptor (DB) and prohormone convertase (PC1). 11531922 2001
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.290 Biomarker disease BEFREE To date, 4 genes have been identified as causes of IHH in the human; KAL [the gene for X-linked Kallmann syndrome (IHH and anosmia)], DAX1 [the gene for X-linked adrenal hypoplasia congenita (IHH and adrenal insufficiency)], GNRHR (the GnRH receptor), and PC1 (the gene for prohormone convertase 1, causing a syndrome of IHH and defects in prohormone processing). 11079449 2000