FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial Dysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We report on a radiographically examined fetus (gestational age 13 weeks) with Crouzon syndrome caused by a mutation in the gene encoding the fibroblast growth factor 2 (FGFR2). 10706360 2000
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome. 20163525 2010
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome. 7581378 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. 7987400 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome). 25886248 2015
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father. 10574673 1999
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE We describe a FGFR2 mutation (p.G338R, c.1012G > C) in a Chinese family with Crouzon syndrome. 29848297 2018
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2. 11484208 2001
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 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: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 AlteredExpression disease BEFREE Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding. 8755573 1996
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE This is the first report of an in-frame insertion in exon 8 of FGFR2 in a child with Crouzon's syndrome, tracheal anomalies, and a tail. 15602758 2005
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE These findings expand the mutation spectrum of FGFR2, and are valuable for genetic counseling in addition to prenatal diagnosis in patients with Crouzon syndrome. 28901406 2017
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. 27430617 2016
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease MGD The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling. 20503384 2010
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease BEFREE The involvement of the IIIb isoform of FGFR2 in the etiopathology of Crouzon syndrome is a novel finding in the craniosynostosis literature field. 22872266 2012
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease BEFREE The craniofacial features in this case were in keeping with a diagnosis of Crouzon syndrome which was confirmed by molecular testing of the FGFR2 gene. 27891566 2016
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. 12186468 2002
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186. 7806229 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease LHGDN The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures. 12162872 2002
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE The Crouzon syndrome, which is associated with fibroblast growth factor receptor (FGFR2) mutations, is characterized by premature fusion of cranial sutures. 12162872 2002
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals. 17105336 2006
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). 27028366 2016
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. 7874170 1994
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Positive controls containing FGFR2 mutations (Crouzon disease and Pfieffer syndrome) were confirmed by SSCP-PCR and sequencing. 11069376 2000
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000