FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 CausalMutation disease CLINVAR
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Crouzon syndrome, an autosomal dominant condition characterized by craniosynostosis, ocular proptosis and midface hypoplasia, is associated with mutations in fibroblast growth factor receptor 2 (FGFR2) (refs 1-3). 7493034 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE The data implies that second-site mutations in FGFR2 itself (outside of exon IIIc) or in other genes may determine specific aspects of the phenotypes of craniosynostosis syndromes. 7581378 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). 7719345 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Since mutations in the extracellular domain of the FGFR2 gene are observed in a few clinically distinct craniosynostosis syndromes (CFD, Jackson-Weiss, Apert and Pfeiffer), the present study gives support to the variable clinical expression of FGFR2 mutations in humans. 8522336 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease BEFREE Given the assignment to the same chromosomeal band(s) as FGFR2 and the probable ligand-receptor relationship of the gene products of FGF8 and FGFR2, we hypothesize that some cases of these craniosynostoses linked to 10q25-q26 that do not have mutations in FGFR2 may involve mutations in FGF8. 8595889 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE In this communication we present novel FGFR2 mutations associated with a spectrum of craniosyostosis phenotypes in 4 sporadic cases and in one family in which craniosynostosis segregates. 8946174 1996
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease CTD_human FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Dominantly acting, allelic mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been described in five craniosynostosis syndromes. 9002682 1997
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. 9048930 1997
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 AlteredExpression disease BEFREE Fibroblast growth factor type 2 (FGF2) protein, which has a high affinity for the FGFR2 splice variant associated with craniosynostosis, is locally abundant; immunohistochemical detection showed it to be present at low levels in Fgfr2 expression domains and at high levels in differentiated areas. 9310332 1997
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation 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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes. 9462761 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE The results show that Apert FGFR-2 mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway, leading ultimately to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development, which establishes a connection between the altered genotype and cellular phenotype in Apert syndromic craniosynostosis. 9502772 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease CTD_human FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. 9605588 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Dominantly acting mutations of the fibroblast growth factor (FGF) receptor 2 (FGFR2) gene have been implicated in various craniosynostosis syndromes. 9700203 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2. 9843049 1998
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. 10329600 1999
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. 10394936 1999
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670 1999
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation disease BEFREE We propose that this particular FGFR2 mutation only confers a predisposition to craniosynostosis and that an additional environmental insult (in this case foetal head constraint associated with breech position) is necessary for craniosynostosis to occur. 10951518 2000
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker disease BEFREE Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000