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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype 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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype BEFREE The knockout mice lack normal Fmr1 protein and show macro-orchidism, learning deficits, and hyperactivity. 31468394 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype BEFREE Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability. 29178241 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype BEFREE These results suggest abnormal neuronal activity in the Fmr1-KO mouse during SWRs, and hyperactivity during other wake and sleep states, with likely adverse consequences for memory processes. 29775702 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype 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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype BEFREE A 237-kb deletion covering the entire FMR1 was identified to cause moderate intellectual disability and marked hyperactivity in an 8-year-old boy. 24963073 2015
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype BEFREE De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. 22549406 2012
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype BEFREE Here, we reveal that THIP significantly attenuated hyperactivity in Fmr1 KO mice, and reduced prepulse inhibition in a volume-dependent manner. 22067669 2011
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype BEFREE Fragile X syndrome (FXS) is caused by a lack of the fragile X mental retardation protein (FMRP); FMRP deficiency in neurons of patients with FXS causes intellectual disability (IQ<70) and several behavioural problems, including hyperactivity and autistic-like features. 20864408 2010
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 GeneticVariation phenotype BEFREE The authors have recently shown that Fmr1KO mice with a yeast artificial chromosome containing the human FMR1 gene have corrected or overcorrected abnormal behaviors including hyperactivity and altered social interactions. 19045956 2008
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype BEFREE In an earlier study, Fmr1 knockout mice carrying a yeast-artificial chromosome (YAC) transgene that over-expresses normal human FMRP (KOYAC) showed a correction or overcorrection of some behavioral responses, such as hyperactivity and anxiety-related responses. 18513141 2008
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype BEFREE The knockout mice lack normal Fmr1 protein and show macroorchidism, learning deficits, and hyperactivity. 8033209 1994
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.200 Biomarker phenotype HPO