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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 Biomarker group BEFREE Loss of regulated Cav2.3 expression could underlie the neuronal hyperactivity and aberrant calcium spiking in FMRP KO mice and contribute to FXS, potentially serving as a novel target for future therapeutic strategies.<b>SIGNIFICANCE STATEMENT</b> Patients with fragile X syndrome (FXS) exhibit signs of neuronal and circuit hyperexcitability, including anxiety and hyperactive behavior, attention deficit disorder, and seizures. 31350260 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE In women with the FMR1 premutation, elevated optimism may reduce the occurrence or severity of MDD and anxiety disorders. 28895261 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to immunological disorders and executive function deficits. 23786467 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE Our data suggest that genetic variants in CRHR1 that associate with differential cortisol activation may also modulate levels of anxiety related to the stress of raising a child with FXS among women who carry an FMR1 premutation. 22573456 2012
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 AlteredExpression group BEFREE Aspects of FXTAS that are modeled well include elevated levels of Fmr1 mRNA, reduced levels of Fmrp, the presence of intranuclear inclusions that develop with age and show similar distributions within neurons, and neuropsychological and cognitive deficits, including poor motor function, impaired memory and evidence of increased anxiety. 19574928 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 Biomarker group CTD_human Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety. 28616095 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE Individuals carrying an FMR1 expansion between 55 and 200 CGG repeats, are at risk of developing the Fragile X-associated tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder characterized by cerebellar gait ataxia, intentional tremor, neuropathy, parkinsonism, cognitive decline, and psychological disorders, such as anxiety and depression. 30900185 2019
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 AlteredExpression group BEFREE In addition, Fmr1 knockout animals exhibited increased locomotor activity, while no differences were found for aggression and anxiety. 11918286 2002
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE High rates of comorbid depressive and anxiety disorders among women with premutation of the FMR1 gene. 24003006 2013
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE FMR1 gene polymorphisms, dopaminergic (DAT, DRD, COMT), serotonin (5-HTTLPR, HTR1A, HTR2A), interleukins, MCR1, HCN (potassium channel), neurorregulinas, GABAergic (GABA, GAD, DBI) DBI, GABA (Gabra) receptors and GAD genes (GAD1, GAD2) appear to contribute to generate condition of depression or anxiety like. 25106036 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 Biomarker group BEFREE These results suggest that the change of shoaling behavior in fmr1 KO zebrafish may result from hyperactivity and an increase of anxiety. 28829283 2017
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE Never having been married and smaller CGG repeat length were associated with increased likelihood of MDD while increased children with FXS in the family and greater child problem behaviors were associated with increased likelihood of an anxiety disorder in the FMR 1 premutation group. 18553360 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 Biomarker group BEFREE Women with the FMR1 premutation appear to have a high incidence of depression and increased symptoms of anxiety. 20629912 2010
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 GeneticVariation group BEFREE The present study followed a sample of women with the FMR1 premutation to characterize the incidence, stability, and predictors of mood and anxiety disorders across a 3-year period. 26300270 2016
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 AlteredExpression group BEFREE This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. 24831882 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.400 AlteredExpression group BEFREE Because it has been observed that brain metabolism of FMR1 null mice is more sensitive to oxidative stress, we propose that the deregulation of Sod1 expression may be at the basis of several traits of the physiopathology of the Fragile X syndrome, such as anxiety, sleep troubles, and autism. 19166269 2009