FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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 A heterozygous mutation at codon 102 of the FGFR1 gene was found in the patient, but the father was found to have the same mutation yet is unaffected by Kallmann syndrome. 31741254 2019
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE Indeed, FGF8 and FGFR1 deficiency severely compromises vertebrate reproduction in mice and humans and is associated with Kallmann Syndrome (KS), a congenital disease characterized by hypogonadotropic hypogonadism associated with anosmia. 31361780 2019
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome. 29228280 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing. 29658329 2018
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS. 28008864 2017
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 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 Biomarker disease BEFREE In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). 26680571 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE NGS with confirmation by Sanger sequencing resulted in the identification of new causative FGFR1 gene mutations and suggested 18 new candidate genes in nHH/KS. 27502037 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
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 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 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 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 GeneticVariation disease BEFREE Diverse mutations in PROKR2, a gene involved both in monogenic recessive and digenic/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test, P<0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (KAL1, PROK2, FGF8, from 6.6 to 0.8%; Fisher's exact test, P>0.4 for all comparisons) or at a lower frequency in Maghrebian patients (FGFR1, 5.0 vs 11.7%; Fisher's exact test, P<0.05). 24031091 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE The protein anosmin-1, coded by the KAL1 gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1). 23189990 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE We report a female with combined pituitary hormone deficiencies (GH, TSH, gonadotropin and ACTH), except for prolactin, as a consequence of PROP1 mutation, and a male with KS (anosmia and IHH) due to Kal 2 gene (fibroblast growth factor receptor 1- FGFR1) mutation, both of whom in adulthood presented with prolactinomas. 22801565 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH). 23276709 2013
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 Here, we demonstrate skeletal phenotypic characterization of patients presented with KS and FGFR1 mutations. 23154428 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. 22771917 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GermlineCausalMutation disease ORPHANET 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 GeneticVariation disease BEFREE Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene. 22751423 2012
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