Aliases & Classifications for Foxg1 Syndrome

MalaCards integrated aliases for Foxg1 Syndrome:

Name: Foxg1 Syndrome 53 25 73
Foxg1-Related Disorder 53 25

Classifications:



External Ids:

UMLS 73 C3150705

Summaries for Foxg1 Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Foxg1 Syndrome, also known as foxg1-related disorder, is related to lennox-gastaut syndrome and epilepsy, and has symptoms including athetosis, constipation and muscle spasticity. An important gene associated with Foxg1 Syndrome is FOXG1 (Forkhead Box G1). Affiliated tissues include brain.

Genetics Home Reference : 25 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.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 lennox-gastaut syndrome 9.9
2 epilepsy 9.9
3 microcephaly 9.8

Symptoms & Phenotypes for Foxg1 Syndrome

UMLS symptoms related to Foxg1 Syndrome:


athetosis, constipation, muscle spasticity, seizures

Drugs & Therapeutics for Foxg1 Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308

Search NIH Clinical Center for Foxg1 Syndrome

Genetic Tests for Foxg1 Syndrome

Anatomical Context for Foxg1 Syndrome

MalaCards organs/tissues related to Foxg1 Syndrome:

41
Brain

Publications for Foxg1 Syndrome

Articles related to Foxg1 Syndrome:

# Title Authors Year
1
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. ( 28661489 )
2017
2
Expanding FOXG1 syndrome phenotype. ( 29169806 )
2017
3
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome. ( 23599699 )
2013
4
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. ( 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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