FCORD2
MCID: FCL081
MIFTS: 60
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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:57
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:32
focal cortical dysplasia, type ii:
Inheritance somatic mutation sporadic Onset and clinical course adult onset infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
ICD10:
34
External Ids:
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UniProtKB/Swiss-Prot
:
75
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 tuberous sclerosis and tuberous sclerosis 1. An important gene associated with Focal Cortical Dysplasia, Type Ii is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways are mTOR signaling pathway and Insulin signaling pathway. Affiliated tissues include brain, cortex and kidney, and related phenotypes are intellectual disability and cognitive impairment OMIM : 57 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:607341Human phenotypes related to Focal Cortical Dysplasia, Type Ii:32 (show all 8)
GenomeRNAi 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:46 (show all 15)
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MalaCards organs/tissues related to Focal Cortical Dysplasia, Type Ii:41
Brain,
Cortex,
Kidney,
Liver,
Bone,
Heart,
Breast
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Articles related to Focal Cortical Dysplasia, Type Ii:
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UniProtKB/Swiss-Prot genetic disease variations for Focal Cortical Dysplasia, Type Ii:75 (show all 15)
ClinVar genetic disease variations for Focal Cortical Dysplasia, Type Ii:6 (show top 50) (show all 406)
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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:37
Pathways related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:(show top 50) (show all 79)
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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 56)
Molecular functions related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:
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