FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Apert syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE All of the patients had at least one mutation in the FGFR2 gene; five of those mutations have already been reported elsewhere, while one mutation is novel and was hypothesized to lead to Apert syndrome. 21928350 2012
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. 7668257 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS. 11390973 2001
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts. 22105374 2012
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998 2018
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. 16951439 2006
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome. 28123344 2017
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF. 24578066 2014
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. 18215098 2008
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. 17622301 2007
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Here we describe two novel mutations in FGFR2 in the two patients in whom a mutation had not previously been found in our cohort of 227 AS cases. 18726952 2009
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 9700203 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. 7668257 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones. 24489893 2014
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2). 26613250 2016
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. 22872262 2012
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Bone formation and micro-architecture between 28- and 56-day-old mutant mice and controls were compared to investigate the changes in the mandibular micro-architecture caused by the Fgfr2(S252W/+) mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome. 23495007 2013
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). 10712195 2000