MCID: FXG001
MIFTS: 27

Foxg1 Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Foxg1 Syndrome

MalaCards integrated aliases for Foxg1 Syndrome:

Name: Foxg1 Syndrome 20 43 58 70
Foxg1-Related Disorder 20 43
Foxg1-Related Epileptic Encephalopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Foxg1 Syndrome

MedlinePlus Genetics : 43 FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.FOXG1 syndrome affects most aspects of development, and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements of the arms and legs and repeated hand motions, are common, and most affected children do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The condition is also characterized by limited communication and social interaction, including poor eye contact and a near absence of speech and language skills. Because of these social impairments, FOXG1 syndrome is classified as an autism spectrum disorder.FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar disorder of brain development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett syndrome is diagnosed almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. Because of these differences, physicians and researchers now usually consider FOXG1 syndrome to be distinct from Rett syndrome.

MalaCards based summary : Foxg1 Syndrome, also known as foxg1-related disorder, is related to rett syndrome and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures, constipation and athetosis. An important gene associated with Foxg1 Syndrome is FOXG1 (Forkhead Box G1). Affiliated tissues include brain and eye, and related phenotypes are strabismus and motor delay

GARD : 20 FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary from case to case, and may include an unusually small head size ( microcephaly ), a specific pattern of brain development (including partial or complete agenesis of the corpus callosum, reduced folds on the surface of the brain, and reduced white matter), intellectual disability, abnormal or involuntary movements, feeding problems, sleep disturbances, seizures, irritability and excessive crying, and limited communication and social skills. Both males and females may be affected. The condition is caused by changes involving the FOXG1 gene. In some cases, there are mutations within the gene; in others, there is a deletion of genetic material from the region of the long (q) arm of chromosome 14 where the gene is located. FOXG1 syndrome is considered an autosomal dominant condition because one copy of the altered gene in each cell is sufficient to cause the disorder. While it is possible for parents to be carriers, most cases result from new mutations.

Wikipedia : 73 Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1... more...

Related Diseases for Foxg1 Syndrome

Diseases related to Foxg1 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 rett syndrome 10.2
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 rett syndrome, congenital variant 10.1
4 microcephaly 10.1
5 lennox-gastaut syndrome 10.0
6 strabismus 9.9
7 pyruvate dehydrogenase e1-alpha deficiency 9.9
8 chorea, childhood-onset, with psychomotor retardation 9.9
9 choreatic disease 9.9
10 sleep disorder 9.9
11 dystonia 9.9
12 mechanical strabismus 9.9
13 mecp2 disorders 9.9
14 pachygyria 9.9
15 encephalopathy 9.9

Graphical network of the top 20 diseases related to Foxg1 Syndrome:



Diseases related to Foxg1 Syndrome

Symptoms & Phenotypes for Foxg1 Syndrome

Human phenotypes related to Foxg1 Syndrome:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
3 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
6 hypotonia 31 hallmark (90%) HP:0001252
7 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
8 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
9 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
12 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
13 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
14 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
15 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
16 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
17 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
18 infantile spasms 58 31 frequent (33%) Frequent (79-30%) HP:0012469
19 severe postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008850
20 poor eye contact 58 31 frequent (33%) Frequent (79-30%) HP:0000817
21 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
22 excessive salivation 58 31 frequent (33%) Frequent (79-30%) HP:0003781
23 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
24 bruxism 58 31 frequent (33%) Frequent (79-30%) HP:0003763
25 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
26 paroxysmal bursts of laughter 58 31 frequent (33%) Frequent (79-30%) HP:0000749
27 hyperkinetic movements 58 31 frequent (33%) Frequent (79-30%) HP:0002487
28 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
29 inappropriate crying 58 31 frequent (33%) Frequent (79-30%) HP:0030215
30 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
31 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
32 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
33 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
34 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
35 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
36 optic disc hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007766
37 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
38 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
39 abnormal respiratory system physiology 31 occasional (7.5%) HP:0002795
40 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
41 stereotypical hand wringing 58 31 very rare (1%) Very rare (<4-1%) HP:0012171
42 sleep disturbance 58 Frequent (79-30%)
43 scoliosis 58 Occasional (29-5%)
44 muscular hypotonia 58 Very frequent (99-80%)
45 dyskinesia 58 Very frequent (99-80%)
46 stereotypy 58 Very frequent (99-80%)
47 abnormality of movement 58 Frequent (79-30%)
48 generalized tonic-clonic seizures 58 Frequent (79-30%)
49 autistic behavior 58 Frequent (79-30%)
50 abnormal corpus callosum morphology 58 Frequent (79-30%)

UMLS symptoms related to Foxg1 Syndrome:


seizures; constipation; athetosis; muscle spasticity

Drugs & Therapeutics for Foxg1 Syndrome

Search Clinical Trials , NIH Clinical Center for Foxg1 Syndrome

Genetic Tests for Foxg1 Syndrome

Anatomical Context for Foxg1 Syndrome

MalaCards organs/tissues related to Foxg1 Syndrome:

40
Brain, Eye

Publications for Foxg1 Syndrome

Articles related to Foxg1 Syndrome:

(show all 32)
# Title Authors PMID Year
1
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome. 61
33768920 2021
2
The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. 61
33096386 2020
3
Structural Basis for DNA Recognition by FOXG1 and the Characterization of Disease-causing FOXG1 Mutations. 61
33058871 2020
4
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region. 61
33257509 2020
5
AAV-mediated FOXG1 gene editing in human Rett primary cells. 61
32541681 2020
6
Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review. 61
33632291 2020
7
Expanding FOXG1 syndrome phenotype. 61
29169806 2020
8
Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders. 61
32158381 2020
9
FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus. 61
30539330 2019
10
Loss of Foxg1 Impairs the Development of Cortical SST-Interneurons Leading to Abnormal Emotional and Social Behaviors. 61
31237323 2019
11
Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects. 61
31253171 2019
12
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. 61
31019990 2019
13
Foxg1 Regulates the Postnatal Development of Cortical Interneurons. 61
29912324 2019
14
Precisely controlling endogenous protein dosage in hPSCs and derivatives to model FOXG1 syndrome. 61
30804331 2019
15
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. 61
30533527 2018
16
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections. 61
30392794 2018
17
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. 61
29321672 2018
18
Regulatory variants of FOXG1 in the context of its topological domain organisation. 61
29289958 2018
19
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. 61
28661489 2018
20
The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons. 61
27224923 2016
21
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 61
26344814 2016
22
Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices. 61
28036350 2016
23
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 61
26364767 2015
24
Dysregulation of FOXG1 by ring chromosome 14. 61
25901181 2015
25
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder. 61
25266269 2014
26
Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. 61
24388699 2014
27
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case. 61
23956198 2013
28
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome. 61
23599699 2013
29
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. 61
22739344 2012
30
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome. 61
22129046 2012
31
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. 61
22091895 2012
32
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. 61
21441262 2011

Variations for Foxg1 Syndrome

Expression for Foxg1 Syndrome

Search GEO for disease gene expression data for Foxg1 Syndrome.

Pathways for Foxg1 Syndrome

GO Terms for Foxg1 Syndrome

Sources for Foxg1 Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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