Create issue ticket

229 Possible Causes for Mutation in the Fibroblast Growth Factor Receptor 3 Gene

  • Achondroplasia

    Genetic mutations in the fibroblast growth factor receptor 3 gene may lead to achondroplasia or syndromic forms of craniosynostosis.[ncbi.nlm.nih.gov] The three sibs shared the paternal allele and all carried the same causal mutation in the fibroblast growth factor receptor 3 gene (FGFR3): G A nt1138 (Gly380Arg).[ncbi.nlm.nih.gov] This condition is caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), a negative regulator of bone growth.[biomarin.com]

  • Hypochondroplasia

    Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene GEERT MORTIER * ,[jmg.bmj.com] A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia .[eje.bioscientifica.com] Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene .[eje.bioscientifica.com]

  • Acanthosis Nigricans

    receptor 3 gene (FGFR3).[ncbi.nlm.nih.gov] Familial acanthosis nigricans caused by the mutation of the fibroblast growth factor receptor 3 (FGFR3) gene is characterized by short stature, hypochondroplasia and acanthosis[ncbi.nlm.nih.gov] Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial[ncbi.nlm.nih.gov]

  • Thanatophoric Dysplasia

    The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found.[ncbi.nlm.nih.gov] Recently, mutations in the fibroblast growth factor receptor 3 gene, located on the short arm of chromosome 4 have been identified as a cause of thanatophoric dysplasia.[ncbi.nlm.nih.gov] Recently. mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that cause two subtypes of this disorder, type I (TDI) and type II (TDII), have been identified[ncbi.nlm.nih.gov]

  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Autosomal dominant mutations in the fibroblast growth factor receptor 3 gene (FGFR3), which has been mapped to chromosome band 4p16.3, results in both subtypes.[jcdr.net] These malformations result from autosomal dominant mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.[ncbi.nlm.nih.gov] Thanatophoric dysplasia (TD) is a lethal dwarfism condition due to missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.[ncbi.nlm.nih.gov]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    receptor 2 gene ( FGFR2 [OMIM 176943 ]) on chromosome 10q26.13, CSAN is caused by a specific missense mutation in the fibroblast growth factor receptor 3 gene ( FGFR3 [OMIM[jamanetwork.com] […] in the fibroblast growth factor receptor 2 gene ( FGFR2 ) on chromosome 10q.[medical-dictionary.thefreedictionary.com] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.[jamanetwork.com]

  • Crouzon Syndrome

    Common craniosynostosis disorders may be caused by mutations in the fibroblast growth factor receptor 1, 2 or 3 (FGFR1, FGFR2, FGFR3) genes as well as a transcription factor[sickkids.ca] A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997 Mar. 60(3):555-64.[emedicine.com] The diagnosis of non-syndromic craniosynostosis is specifically based on the identification of a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.[sickkids.ca]

  • Epidermal Nevus Syndrome

    The association of epidermal nevi and transitional cell bladder carcinoma may be linked to a mutation in the fibroblast growth factor receptor 3 gene, FGFR3, but a clear link[ncbi.nlm.nih.gov] It is caused by mutations to the fibroblast growth factor receptor 3 (FGFR) gene and is also called FGFR3 epidermal nevus syndrome.[rarediseases.org]

  • Skeletal Dysplasia

    The classical classification of type I and II seems to be ambiguous as, in both cases, the same mutation in the fibroblast growth factor receptor 3 gene was found.[ncbi.nlm.nih.gov] Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia[ncbi.nlm.nih.gov] In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    Eur J Hum Genet 2006;14:39-48 Muenke M, Gripp KW, McDonald-McGinn DM: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis[karger.com] Common craniosynostosis disorders may be caused by mutations in the fibroblast growth factor receptor 1, 2 or 3 (FGFR1, FGFR2, FGFR3) genes as well as a transcription factor[sickkids.ca] A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.[ncbi.nlm.nih.gov]

Further symptoms