FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Thanatophoric Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Fibroblast growth factor receptors 3 (FGFR3) with K644M/E substitutions are associated to the severe skeletal dysplasias: severe achondroplasia with developmental delay and achanthosis nigricans(SADDAN) and thanatophoric dysplasia(TDII). 16476447 2006
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN. 25119967 2015
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia. 20922792 2011
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease LHGDN Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias. 18923003 2009
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). 29040558 2018
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE The abnormal phenotypes of the Hspg2-/- skeleton are similar to those of thanatophoric dysplasia (TD) type I, which is caused by activating mutations in FGFR3 (refs 7, 8, 9), and to those of Fgfr3 gain-of-function mice. 10545953 1999
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE In the present study, we analyzed apoptosis using a chondrogenic cell line, ATDC5, expressing the FGFR3 mutants causing ACH and thanatophoric dysplasia, which is a more severe neonatal lethal form comprising type I and type II. 14671399 2003
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. 19449430 2009
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE The mutant FGFR3 genes causing ACH and thanatophoric dysplasia (TD), which is a more severe neonatal lethal form, were introduced into a chondrogenic cell line, ATDC5. 12929929 2003
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE We suggest FGFR3 mutations might cause cerebral malformations in hypochondroplasia as well as in thanatophoric dysplasia. 16222682 2005
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Two lines and one primary tumour with this translocation selectively express an FGFR3 allele containing activating mutations identified previously in thanatophoric dwarfism. 9207791 1997
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade. 21264819 2011
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844 1996
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Amniocentesis and DNA analysis confirmed the mutation of FGFR3 gene indicating thanatophoric dysplasia. 18504386 2008
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. 19855393 2009
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 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: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3. 8723102 1996
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD. 7773297 1995
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease LHGDN CRD has not been previously described in TD or other conditions due to FGFR3 mutations, but occurs in Apert syndrome (due to FGFR2 mutations). 17375526 2006
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE These findings indicate that TD mutations in the FGFR3 gene do not cause disease progression of bladder carcinoma. 11745189 2001
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 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: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease LHGDN Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 12833394 2003
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. 20034074 2010
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.600 GeneticVariation disease BEFREE The present report shows that adjunctive applications of molecular genetic analysis of the FGFR3 gene and three-dimensional ultrasound are useful for prenatal diagnosis of TD. 11241532 2001