FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality. 29915381 2019
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. 29280877 2018
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. 27762162 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE There were 8 cases of sacrococcygeal eversion, including 2 associated with Apert or Pfeiffer syndrome and fibroblast growth factor receptor 2 (FGFR2) mutations; these have previously been reported. 27497702 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS. 25129254 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease BEFREE Since our patient shows typical radiological findings of Pfeiffer syndrome in hands and feet but at the same time lacks several characteristic features such as clinical signs of craniosynostosis and prominent eyes we suggest introducing the term "FGFR2 associated phenotypes" for similar cases. 26096994 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. 25759925 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 24489893 2014
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself. 23532954 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome. 23495007 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation. 24127277 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. 22664175 2012
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE The brain anomalies in PS result from the combination of mechanical deformations and intrinsic developmental disorders due to FGFR2 hyperactivity. 22987770 2012
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease BEFREE This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye. 20809772 2010
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease CTD_human Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 19186770 2009
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. 19066959 2009
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease CTD_human RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. 17694057 2007
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Our data provide conclusive evidence that the mutational spectrum of FGFR2 mutations in CS and PS is wider than originally thought. 16418739 2006
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695 2006