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 Biomarker disease HPO
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Crouzon syndrome is typically caused by heterozygous missense mutations in the third immunoglobulin domain of FGFR2. 25174698 2014
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Crouzon syndrome is usually caused by pathogenic variants in the fibroblast growth factor receptor 2 (FGFR2) gene. 31318164 2019
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2. 31463736 2019
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 A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 15523492 2005
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 GeneticVariation disease BEFREE A novel FGFR2 mutation associated with tyrosine kinase II (TK-II) domain, L617F, was found in one Crouzon syndrome patient by direct PCR sequencing. 23913723 2014
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 GeneticVariation disease BEFREE According to our results, sequencing analysis of IgIII domain of the FGFR2 gene can lead to a genetic diagnosis of Crouzon syndrome. 16470531 2006
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE All affected offspring were shown to be carriers of a partial trisomy of chromosome 14 including the FGFR2 gene, which is associated with various dominant inherited craniofacial dysostosis syndromes in man, and partial monosomy of chromosome 8 containing MSX1 known to be associated with tooth agenesis and orofacial clefts in other species. 31068123 2019
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 mutation in Chinese patients with Crouzon syndrome. 22355256 2012
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Although FGFR2 mutations and polymorphisms have been reported in various ethnic groups, especially in the area of osteology, we report, for the first time, the identification of one new FGFR2 gene mutation in Chinese patients with Crouzon syndrome. 22665975 2012
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344 1995
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 GeneticVariation disease BEFREE Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. 22117175 2012
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. 7592798 1995
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 GeneticVariation disease BEFREE Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2. 10541159 1999
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE For example, we have identified 10 different mutations in the FGFR2 extracellular immunoglobulin III (IgIII) domain in 50% (16/32) of our Crouzon syndrome patients. 7493034 1995
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 GeneticVariation disease BEFREE Genotype-phenotype analyses based on our cohort and previous studies further indicate that in spite of some overlap, PS and CS are preferentially accounted for by two distinct sets of FGFR2 mutations. 16418739 2006
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.700 GeneticVariation disease BEFREE Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome. 7607643 1995
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 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