FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. 27762162 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome. 9279753 1997
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. 10394936 1999
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. 10861678 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE A mild form of Pfeiffer syndrome can rarely be caused by a specific mutation in FGFR1. 23532954 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease UNIPROT Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. 7874169 1994
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. 7874169 1994
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression. 10942429 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984 2006
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. 7719345 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues. 11596961 2001
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). 27683237 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Previously, we have mapped PS in a subset of families to chromosome 8cen by linkage analysis and demonstrated a common mutation in the fibroblast growth factor receptor-1 (FGFR1) gene in the linked families. 7795583 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease BEFREE Less frequently, mutations are observed in FGFR1 and FGFR3 in some cases of Crouzon and Pfeiffer syndrome. 9342602 1997
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease CLINVAR
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease BEFREE Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. 26931467 2016
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease UNIPROT Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice. 23812909 2013
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease UNIPROT In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease BEFREE This study expands the FGFR1 mutational spectrum associated with HS, provides functional evidence further supporting a dominant-negative effect of this category of FGFR1 variants and offers initial insights on dysregulation of autophagy in HS. 30787447 2019
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease BEFREE In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease BEFREE Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice. 23812909 2013
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 GeneticVariation disease BEFREE Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. 29683947 2018
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 GeneticVariation disease BEFREE Targeted resequencing of FGFR1 in multiple tissues from an independent cohort of individuals with ECCL identified one additional individual with a c.1638C>A (p.Asn546Lys) mutation in FGFR1. 26942290 2016