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FCORD2
MCID: FCL081
MIFTS: 58
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Focal Cortical Dysplasia, Type Ii (FCORD2)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Focal Cortical Dysplasia, Type Ii:
Characteristics:OMIM:56
Inheritance:
somatic mutation
Miscellaneous:
adult onset has been reported onset usually in infancy or early childhood two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells type iia tends to have more severe phenotype with earlier onset surgical intervention is not always curative mutations occur somatically in affected brain tissue HPO:31
focal cortical dysplasia, type ii:
Inheritance somatic mutation sporadic Onset and clinical course infantile onset adult onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis External Ids:
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UniProtKB/Swiss-Prot :
73
Focal cortical dysplasia 2: A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells.
Focal cortical dysplasia of Taylor balloon cell type: Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. MalaCards based summary : Focal Cortical Dysplasia, Type Ii, also known as focal cortical dysplasia of taylor, is related to hemimegalencephaly and tuberous sclerosis 1. An important gene associated with Focal Cortical Dysplasia, Type Ii is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and Insulin signaling pathway. The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and cognitive impairment OMIM : 56 Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016). (607341) KEGG : 36 Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder. |
Human phenotypes related to Focal Cortical Dysplasia, Type Ii:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:607341GenomeRNAi Phenotypes related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Focal Cortical Dysplasia, Type Ii:45 (show all 13)
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Drugs for Focal Cortical Dysplasia, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Focal Cortical Dysplasia, Type Ii:40
Brain,
Cortex
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Articles related to Focal Cortical Dysplasia, Type Ii:(show top 50) (show all 57)
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Genes related to Focal Cortical Dysplasia, Type Ii (3 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Focal Cortical Dysplasia, Type Ii:6 (show top 50) (show all 325)
UniProtKB/Swiss-Prot genetic disease variations for Focal Cortical Dysplasia, Type Ii:73 (show all 15)
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Search
GEO
for disease gene expression data for Focal Cortical Dysplasia, Type Ii.
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Pathways related to Focal Cortical Dysplasia, Type Ii according to KEGG:36
Pathways related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:(show top 50) (show all 87)
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Cellular components related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:
Biological processes related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:(show top 50) (show all 55)
Molecular functions related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:
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