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 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 GeneticVariation disease UNIPROT Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378 1998
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 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 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 GeneticVariation disease BEFREE One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome. 9279753 1997
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 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 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 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 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 CausalMutation disease CLINVAR Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. 9462761 1998
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease UNIPROT In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). 10394936 1999
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease BEFREE To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2. 15523615 2004
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease BEFREE Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease BEFREE We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. 7719345 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549 1998
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 This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal. 9150725 1997
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 GeneticVariation disease UNIPROT This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal. 9150725 1997
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
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 CausalMutation disease CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583 1995