FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease BEFREE FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. 29289958 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease UNIPROT Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. 19578037 2010
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease BEFREE We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. 22739344 2012
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease UNIPROT The forkhead box G1 (FOXG1)gene has recently been associated with the congenital variant of Rett syndrome, and so far 17 mutations have been reported. 21280142 2011
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease BEFREE FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. 28661489 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 GeneticVariation disease BEFREE Mutations in human FOXG1 cause deficiencies in learning and memory and limit social ability, which is defined as FOXG1 syndrome, but its pathogenic mechanism remains unclear. 31253171 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly. 19806373 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. 26364767 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. 24836831 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. 16133170 2005
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 GeneticVariation disease BEFREE Hypo- or agenesis of the anterior corpus callosum in combination with acquired microcephaly and neurologic impairment can be an important clue for identifying patients with a mutation in FOXG1. 24388699 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.450 GeneticVariation phenotype BEFREE Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively. 23622176 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.450 GeneticVariation phenotype BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.450 GeneticVariation phenotype BEFREE These findings will improve our understanding of the postnatal development of interneurons and help to elucidate the mechanisms underlying seizure in patients carrying Foxg1 mutations. 29912324 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.450 GeneticVariation phenotype BEFREE Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. 22968132 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 GeneticVariation disease BEFREE Epilepsy in patients with duplications of chromosome 14 harboring FOXG1. 24731847 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 GeneticVariation disease BEFREE All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes.The frequency of epilepsy was 79%. 20728410 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 GeneticVariation group BEFREE Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. 31105003 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 GeneticVariation group BEFREE Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). 25389532 2014
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE However, mutations in FOXG1 cause a less frequent form of atypical Rett syndrome, called FOXG1 syndrome. 30539330 2019
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. 28781028 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. 19623215 2009