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: C0039075
Disease: Syndactyly
Syndactyly
0.100 Biomarker disease BEFREE Of 15 patients identified as having FGFR1- or FGFR2-confirmed Pfeiffer syndrome, 12 (80 percent) presented with upper extremity anomalies, most commonly broad thumbs [n = 10 (83 percent)], radial clinodactyly (thumbs) [n = 7 (58 percent)], and symphalangism [n = 7 each (58 percent)]. 24776567 2014
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease LHGDN Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. 17189145 2006
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis. 15282208 2004
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757 2004
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. 12357470 2002
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 AlteredExpression disease BEFREE Apert metaphyseal synostosis and symphalangism reflect KGFR expression, which has independently been quantitatively related ex vivo to the severity of clinical digital presentations in these syndromes. 11335797 2001
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 Biomarker disease BEFREE This provides the first genetic evidence that signaling through KGFR causes syndactyly in Apert syndrome. 9973282 1999
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE Apert syndrome, characterized in addition by syndactyly of the limbs, involves specific mutations at two adjacent residues, Ser252Trp and Pro253Arg, predicted to lie in the linker region between IgII and IgIII of the FGFR2 ligand-binding domain. 9700203 1998
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 9719378 1998
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.100 GeneticVariation disease BEFREE The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. 8651276 1996