FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61-200), of which two were also affected by POF. 17428316 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before. 19041959 2009
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE To assess whether the number of triple CGG expansion of the FMR1 (fragile X) gene, known to correlate at premutation (55-200 repeats) and full mutation (>200 repeats) ranges with risk toward premature ovarian failure (POF), also correlates with milder forms of premature ovarian senescence. 18384775 2009
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 AlteredExpression disease BEFREE DNA and RNA samples were isolated from 74 patients with idiopathic POF to evaluate quantitatively the expression of FMR1 in leukocytes and CGG triplet number on FMR1 gene alleles. mRNA levels were normalized and compared with those of control women. 21335413 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE FMR1 premutation carriers of CGG repeats are supposed to be at increased risk for POF. 30030199 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF). 28454580 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR. 27876427 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE We found no significant association between FMR1 CGG repeat premutation and POF in Indian population. 24452737 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. 28812997 2017
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome. 21926154 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Analysis of the CGG expansion in the FMR1 gene may be justified in women with POF and EM until the real role of the FMR1 premutation is determined. 11256870 2001
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. 10729312 2000
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. 21944929 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE FMR1 and the continuum of primary ovarian insufficiency. 21969264 2011
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. 20425841 2010
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency. 23765048 2013
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Participants have been investigated in cytogenetic analysis followed by FMR1 repeat size expansions and search of variants for nine premature ovarian insufficiency-associated genes. 31026518 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency. 19460937 2009
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome). 24782005 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation. 18310361 2008
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought. 16078053 2005
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. 19233246 2009
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease BEFREE Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases. 29986653 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype. 24938362 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 GeneticVariation disease BEFREE FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers. 23760159 2013