FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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 		0.600 GeneticVariation disease BEFREE Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. 16606836 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Gain or loss of function due to missense mutations in FGFR1 is responsible for a variety of disorders including Kallmann syndrome, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, etc. 23329143 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE The study characterised the dental ageneses of individuals with KS associated with mutations in the FGFR1 gene. 20536592 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). 25501157 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. 26051373 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE FGFR1 and anosmin-1 underlying genetically distinct forms of Kallmann syndrome are co-expressed and interact in olfactory bulbs. 17186267 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Genotype-phenotype correlations have shown that some clinical features associated with KS, such as loss of nasal cartilage, hearing impairment, and anomalies of the limbs seem to be mainly associated with KAL2 mutations. 20389085 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE The aim of this study was to present a case report of a genetic diagnosis of KS linked to the presence of mutations in the FGFR1 (fibroblast growth factor receptor 1, also known as KAL2) gene. 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Direct sequencing was performed for FGFR1, and clinical assessment was carried out for KS features. 15845591 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. 19820032 2009
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Fibroblast growth factor receptor 1 (FGFR1), a tyrosine kinase receptor, was one of the first genes whose mutations were identified as causative in KS FGFR1 is responsible for the formation of the GnRH neuron system. 28778954 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE In this retrospective cohort study, we investigated childhood growth in six females with KS due to mutations in FGFR1 and evaluated their reproductive phenotypes later in life. 24841555 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene. 26199944 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Therefore, this is the first case of KS carrying a de novo missense mutation in FGFR1 exon 8A, suggesting that isoform FGFR1-IIIb, as well as isoform FGFR1-IIIc, plays a crucial role in the pathogenesis of KS. 20139426 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE To date, the detailed reproductive phenotype of KS associated with mutations in the FGFR1 has yet to be described. 15613419 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. 28411082 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Loss-of-function mutations in the KS gene KAL-2/FGFR1 account for roughly 10% of KS cases, leading to the autosomal dominant form of the disease. 20117945 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 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 		0.600 GeneticVariation disease BEFREE Considering the low prevalence of mutations in KAL1 or FGFR1 in KS, it is possible that these genotypes are more prevalent in reversible KS than in other KS patients, but additional studies are necessary to confirm this hypothesis. 17322486 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. 21543378 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE IHH associated with impaired olfactory function (Kallmann syndrome) may be caused by mutations of the X-chromosomal KAL1 (encoding anosmin) or the fibroblast growth factor receptor 1 genes (FGFR1), both leading to agenesis of olfactory and GnRH-secreting neurons. 15722618 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease BEFREE A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker disease CTD_human
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease LHGDN Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 15001591 2004