FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620 2019
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS. 27683237 2017
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested. 27568649 2016
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation. 24705944 2014
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24168007 2014
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. 23378035 2013
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. 23044018 2012
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE To better understand the pathophysiology of the Muenke syndrome, we present collective findings from several recent studies that have characterized a genetically equivalent mouse model for Muenke syndrome (FgfR3 (P244R)) and compare them with human phenotypes. 22872265 2012
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757 2011
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2010
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. 20592905 2010
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease MGD We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. 19086028 2009
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. 19086028 2009
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease MGD The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing. 18818193 2009
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3(P244R) mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing. 18818193 2009
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. 19215249 2009
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449 2006
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. 12794698 2003
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040 2001
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359 1999
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 9600744 1998