Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE In addition, we found an even wider spectrum of reproductive function within pedigrees carrying an FGFR1 mutation ranging from IHH to delayed puberty to normal reproductive function (anosmia only or asymptomatic carriers). 16764984 2006
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Although mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been implicated in the development of IHH, KS, and SOD, the relevance of FGFR1 abnormalities to CPHD remains to be elucidated. 23657145 2013
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. 20463092 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH). 23276709 2013
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. 17235395 2007
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 16606836 2006
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE These results support the hypothesis that IHH/KS patients with digenic mutations in Fgfr1/Fgf8 may have a further reduction in the GnRH neuronal population compared to patients harbouring monogenic haploid mutations in Fgfr1 or Fgf8. 20553372 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE The purpose of this study was to determine whether FGFR1 mutations were present in a unique family with autosomal dominant, fully penetrant, normosmic IHH. 17200176 2007
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease BEFREE Most causative genes cause either normosmic IHH or KS except FGFR1, which may cause either phenotype. 18253056 2008
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. 18463157 2008
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease BEFREE Our approach "re-discovered" genes previously implicated in IHH (FGFR1, TACR3, GNRHR). 30269813 2018
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KAL1 or FGFR1 mutations. 18834967 2008
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Here, we report an nIHH patient with a novel mutation in FGFR1. 25501157 2014
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE The objective was to investigate genetic defects in the KAL1 and FGFR1 genes in patients with congenital isolated hypogonadotropic hypogonadism (IHH). 16882753 2006
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease BEFREE Six of the twelve subjects had an identified genetic cause of their IHH: KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1). 25226293 2014
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE To describe a mother with idiopathic hypogonadotropic hypogonadism (IHH) and her monozygotic (MZ) twin boys who all have the same heterozygous fibroblast growth factor receptor-1 (FGFR1) gene mutation. 20079901 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms. 26277103 2015
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Six novel mutations (p.154_158del, p.E496Rfs*12, p.W190X, p.S134D, p.W10X, and c.1552 + 3insT) in FGFR1, two novel mutations (p.E176K and p.R184C) in FGF8, three novel mutations (p.48_52del, p.P120L, and p.K191R) in FGF17, and five reported mutations (p.W289X, p.G237S, p.V102I, p.R250Q, and p.T340M) in FGFR1 were identified in 18 IHH patients. 31748124 2020
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Certain genes, including PROK2 and FGFR1, are associated with both anosmic and normosmic IHH. 19707180 2009
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Nine nIHH subjects (five males and four females; 7%) harbor a heterozygous mutation in FGFR1 and exhibit a wide spectrum of pubertal development, ranging from absent puberty to reversal of IHH in both sexes.All mutations impair receptor function. 19820032 2009
Idiopathic hypogonadotropic hypogonadism
0.500 CausalMutation disease CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987 2013
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease CLINVAR
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909 2013