FCORD2
MCID: FCL081
MIFTS: 56
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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:Inheritance:
Somatic mutation 57
OMIM®:57 (Updated 08-Dec-2022)
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 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases
ICD10:
32
Orphanet: 58
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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) (Updated 08-Dec-2022) MalaCards based summary: Focal Cortical Dysplasia, Type Ii, also known as focal cortical dysplasia of taylor, is related to epilepsy 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 Prolactin Signaling and Akt Signaling. The drugs Everolimus and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are brain imaging abnormality and psychomotor deterioration UniProtKB/Swiss-Prot 73 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. 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. Orphanet: 58 Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. |
Human phenotypes related to Focal Cortical Dysplasia, Type Ii:58 30 (show all 28)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:607341 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:25
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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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Organs/tissues related to Focal Cortical Dysplasia, Type Ii:
MalaCards :
Brain,
Cortex,
Temporal Lobe,
Endothelial,
Thyroid,
Breast,
Bone
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Articles related to Focal Cortical Dysplasia, Type Ii:(show top 50) (show all 377)
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ClinVar genetic disease variations for Focal Cortical Dysplasia, Type Ii:5 (show top 50) (show all 345)
UniProtKB/Swiss-Prot genetic disease variations for Focal Cortical Dysplasia, Type Ii:73 (show all 15)
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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 GeneCards Suite gene sharing:(show all 41)
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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 all 11)
Molecular functions related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:
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