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 This mutation has been reported in two different patients and it is located in the Ig-III domain of the FGFR3 region near other mutations associated with ACH. 31048079 2020
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 Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-G374R mutation in achondroplasia in mice. 30487289 2019
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE A variety of genes have been reported for SS, among which FGFR-3 was the main gene in achondroplasia and hypochondroplasia. 31177591 2019
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 AlteredExpression disease BEFREE These morphological features were the same as those observed in CNP-KO mice and activated fibroblast growth factor receptor 3 achondroplasia-phenotype mice. 31120905 2019
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: 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 The phenotype of heterozygous biallelic mutations in FGFR3 associated with ACH is variable, underscoring the importance of recognition and accurate diagnosis to ensure appropriate management. 30160829 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. 29681095 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <i>FGFR3-</i>Related Skeletal Dysplasias. 29170271 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. 29360984 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. 29496218 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE These results suggest that achondroplasia induces an uncommon metabolism of energy, directly linked to the FGFR3 mutation. 29652901 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. 28520086 2018
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 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 OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. 27767902 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Heterozygous (FGFR3<sup>ACH/+</sup>) and homozygous (FGFR3<sup>ACH/ACH</sup>) mice expressing human FGFR3<sup>G380R</sup> recapitulate the phenotypes observed in ACH patients, including growth retardation, disproportionate shortening of the limbs, round head, mid-face hypoplasia at birth, and kyphosis progression during postnatal development. 28230213 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. 28802681 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). 27987249 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD). 28679403 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE No effective FGFR3-targeted therapies for ACH are currently available. 28785080 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE PTH 1-34 Ameliorates the Osteopenia and Delayed Healing of Stabilized Tibia Fracture in Mice with Achondroplasia Resulting from Gain-Of-Function Mutation of FGFR3. 29104492 2017
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