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 Biomarker disease BEFREE We believe the FOXG1 position effect largely accounts for the clinical phenotype in DGAP294, which can be classified as FOXG1 syndrome like. 29321672 2018
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 Biomarker disease BEFREE Our data and review of previous reports highlight dysregulation of FOXG1 pathway as the cause of the "FOXG1 syndrome" developmental disorder. 23956198 2013
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 Biomarker disease BEFREE Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. 31019990 2019
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 Biomarker disease BEFREE Our findings identify a novel role of Foxg1 in SST-IN development and put new insights into the cellular basis of FOXG1 syndrome. 31237323 2019
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		0.790 Biomarker disease BEFREE 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. 22968132 2013
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 Biomarker disease BEFREE We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome. 22739344 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease BEFREE FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. 18627055 2008
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 Biomarker disease BEFREE Its complete absence is embryonic lethal while Foxg1 heterozygous mice are viable but display microcephaly, altered hippocampal neurogenesis and behavioral and cognitive deficiencies. 25966633 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease BEFREE The regulation of the post-mitotic neural survival activity of TLE1 depends critically on an interaction with FOXG1, a gene shown to be involved in a postnatal microcephaly syndrome. 29758293 2018
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: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease BEFREE Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome. 25266269 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.500 Biomarker disease BEFREE Homozygous knockout of Foxg1 in mice leads to severe microcephaly, attributed to premature differentiation of telencephalic progenitors, mainly of cortical progenitors. 29080444 2017
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: C0036572
Disease: Seizures
Seizures 		0.450 Biomarker phenotype BEFREE All subjects with FOXG1-related disorders had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or intractability of seizures. 24836831 2014