FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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 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 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 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 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 Biomarker disease CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
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 Biomarker disease HPO