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 Biomarker disease CTD_human
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 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 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 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 FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH). 23276709 2013
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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