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 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 Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. 9475591 1998
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 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 All mutations described so far for other craniosynostotic syndromes with associated limb anomalies--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for Pfeiffer syndrome. 7493034 1995
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 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 Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). 15282208 2004
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. 9475590 1998
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. 11807866 2002
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST. 11173845 2000
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 AlteredExpression disease BEFREE Since FGF8 maps to the same chromosomal region as FGFR2, has indeed been shown to be a ligand for FGFR2, and has an expression pattern consistent with limb and craniofacial anomalies, we have screened two kindreds with Pfeiffer syndrome that were previously linked to markers from 10q24-25 and a large number of individuals with craniosynostosis and limb anomalies for mutations in the coding sequence of FGF8. 9332670 1997
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 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 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 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 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 BEFREE The mutation identified in our patient, Ser351Cys in FGFR2, represents the first reported cause of Pfeiffer syndrome type III. 9714439 1998
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS. 7795583 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE 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