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 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 PosttranslationalModification disease BEFREE Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease BEFREE In contrast, a broad range of mutations throughout the extracellular domain of FGFR2 causes the overlapping cranial phenotypes of Pfeiffer and Crouzon syndromes and related craniofacial dysostoses. 11596961 2001
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 HPO
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 Biomarker disease CTD_human A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease MGD Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis. 17132737 2006
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 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: 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 Despite long axial lengths, shallow anterior chambers with occluded angles are possible in Crouzon syndrome and are most likely caused by FGFR2-related anterior segment dysgenesis. 29557836 2018
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease MGD A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. 15316116 2004
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease MGD Mechanical properties of calvarial bones in a mouse model for craniosynostosis. 25966306 2015
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 Biomarker disease BEFREE Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis. 28574949 2017
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 15523492 2005
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 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 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 Fibroblast growth factor receptor 2 (FGFR2) <sup>C342Y/+</sup> mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. 29223639 2018
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 Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. 20635358 2010
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 Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. 28768473 2017
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 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