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 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 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 GeneticVariation disease BEFREE Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). 16757108 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Although Kallmann syndrome (KS) caused by heterozygous loss of function mutations of the fibroblast growth factor receptor 1 gene (FGFR1) is occasionally associated with characteristic features, such as dental agenesis and cleft palate, FGFR1 mutations remain unidentified in several KS patients with such characteristic features. 16418210 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE This low prevalence of KAL1 mutations indicates that other genes, such as the fibroblast growth factor receptor 1 (FGFR1) gene or other as yet undiscovered genes, epigenetic events and/or environmental factors might be involved in the aetiology and phenotypic variability of KS. 17223984 2007
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 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 GeneticVariation disease BEFREE Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
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 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 GeneticVariation disease BEFREE Currently, the fibroblast growth factor receptor 1 (FGFR1) gene is the only known autosomal dominant cause of KS, which is also associated with synkinesia, midfacial defects, and dental agenesis. 17200176 2007
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 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 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
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. 17154279 2007
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 Two KS-related loci are currently known: KAL1, encoding anosmin-1, responsible for X-linked KS, and KAL2, encoding the fibroblast growth factor receptor 1 (FGFR1), mutated in autosomal dominant KS. 17191030 2007
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 Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene. 22751423 2012
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 One hundred and fifty probands with KS (130 males and 20 females) were studied to determine the frequency and distribution of FGFR1 mutations and their detailed reproductive phenotypes. 16764984 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GeneticVariation disease BEFREE KAL2, identified as the fibroblast growth factor receptor 1 (FGFR1) gene, has now been recognised to be the underlying genetic defect for an autosomal dominant form of KS. 18034870 2008
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