Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Live-born infants with TDI are exceedingly rare, and we hereby report a newborn with a c.2419 T > C mutation in FGFR3, emphasizing phenotype with clinical characteristics and ultrasonographic and X-ray findings, to raise awareness about the heterogeneous patterns of TD. 31476288 2019
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). 29040558 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 Biomarker disease BEFREE Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. 29360984 2018
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE A second-trimester fetus with a heterozygous c.2419T>G mutation in FGFR3 may present characteristic ultrasound and X-ray findings of TD1. 28254233 2017
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 Biomarker disease BEFREE Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly. 28249712 2017
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene. 27214123 2016
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE To date, no insertions or deletions in FGFR3 have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation. 27028100 2016
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. 27450648 2016
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE We report a female case of thanatophoric dysplasia type I (TD1) with FGFR3 mutation. 23551494 2013
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations. 23649205 2013
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 Biomarker disease BEFREE A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. 23014564 2012
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Achondroplasia (ACH) and thanatophoric dysplasia (TD) are caused by gain-of-function mutations of fibroblast growth factor receptor 3 (FGFR3) and they are the most common forms of dwarfism and lethal dwarfism, respectively. 22634226 2012
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia. 20922792 2011
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Both types of TD are caused by mutations in different functional domains of the FGFR3 gene. 21204232 2011
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN. 19622626 2009
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 GeneticVariation disease BEFREE Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias. 18923003 2009
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.800 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