Aliases & Classifications for Foxg1 Syndrome

MalaCards integrated aliases for Foxg1 Syndrome:

Name: Foxg1 Syndrome 50 25 69
Foxg1-Related Disorder 50 25

Classifications:



Summaries for Foxg1 Syndrome

NIH Rare Diseases : 50 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. last updated: 11/5/2015

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). The drugs Heparin and calcium heparin have been mentioned in the context of this disorder. 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.

Related Diseases for Foxg1 Syndrome

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

id Related Disease Score Top Affiliating Genes
1 lennox-gastaut syndrome 9.8
2 epilepsy 9.8
3 microcephaly 9.7

Symptoms & Phenotypes for Foxg1 Syndrome

UMLS symptoms related to Foxg1 Syndrome:


athetosis, constipation, muscle spasticity, seizures

Drugs & Therapeutics for Foxg1 Syndrome

Drugs for Foxg1 Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational 9005-49-6 772 46507594
2 calcium heparin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic and Physical Characteristics of Rett Syndrome Completed NCT00299312
2 New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization Completed NCT02885090
3 Rare Diseases Clinical Research Network: Neurophysiological Correlates Recruiting NCT03077308
4 Biobanking of Rett Syndrome and Related Disorders Recruiting NCT02705677
5 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281

Search NIH Clinical Center for Foxg1 Syndrome

Genetic Tests for Foxg1 Syndrome

Anatomical Context for Foxg1 Syndrome

MalaCards organs/tissues related to Foxg1 Syndrome:

39
Brain

Publications for Foxg1 Syndrome

Articles related to Foxg1 Syndrome:

id Title Authors Year
1
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. ( 28661489 )
2017
2
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome. ( 23599699 )
2013
3
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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....