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 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 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 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 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 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 FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. 19820032 2009
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 Biomarker 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 		0.600 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 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 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 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 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 GermlineCausalMutation disease ORPHANET 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 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 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 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 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 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 LHGDN 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 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 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 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 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