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: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. 16841094 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Given the homogeneity of mutations within the fibroblast growth factor receptor 3 (FGFR3) gene in the vast majority of patients with Ach, FGFR3 mutational analysis can be offered in every instance where a short-limb disorder is ultrasonographically detected in the latter stages of pregnancy. 8809893 1996
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. 27836589 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. 7913883 1994
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. 24864036 2014
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD. 7773297 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Instead, the phosphorylation efficiency within un-liganded FGFR3 dimers is increased, and this increase is likely the underlying cause for pathogenesis in achondroplasia. 22529939 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Activating mutations within fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase, are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes, Thanatophoric Dysplasia (TD) type I and II. 18794123 2008
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test. 15345118 2004
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE These results suggest that the molecular basis of achondroplasia is unregulated signal transduction through FGFR3, which may result in inappropriate cartilage growth plate differentiation and thus abnormal long bone development. 8599935 1996
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia. 26686765 2016
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5. 17466614 2007
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus. 29542187 2019
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Compared with RFLP-PCR, HRM analysis provided a more rapid, simpler, and less expensive approach for detecting the most common FGFR3 mutations carried by patients with ACH. 22339077 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. 7847369 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. 18196933 2008
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE This work reveals new information about the molecular events that underlie the achondroplasia phenotype, and highlights differences in FGFR3 activation due to different single amino-acid pathogenic mutations. 27040652 2016
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations. 8682509 1996
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis). 22946287 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). 22045636 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Recently, an infant with achondroplasia and a novel p.Ser348Cys FGFR3 mutation was reported. 28181399 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and hypochondroplasia. 7493034 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach). 29323153 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. 29040558 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. 10360392 1999