FCORD2
MCID: FCL081
MIFTS: 58

Focal Cortical Dysplasia, Type Ii (FCORD2)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Cortical Dysplasia, Type Ii

MalaCards integrated aliases for Focal Cortical Dysplasia, Type Ii:

Name: Focal Cortical Dysplasia, Type Ii 56 73
Focal Cortical Dysplasia of Taylor 56 52 73 36 71
Focal Cortical Dysplasia Type Ii 52 29 6
Cortical Dysplasia of Taylor 56 52 73
Fcdt 56 52 73
Cdt 56 52 73
Cortical Dysplasia of Taylor, Dysplasia Only 73 71
Focal Cortical Dysplasia Type 2 52 73
Fcord2 56 73
Fcd2 56 73
Focal Cortical Dysplasia of Taylor Balloon Cell Type 73
Cortical Dysplasia of Taylor Without Balloon Cells 73
Focal Cortical Dysplasia, Taylor Balloon Cell Type 13
Cortical Dysplasia of Taylor with Balloon Cells 73
Focal Cortical Dysplasia of Taylor, Type Iib 71
Focal Cortical Dysplasia, Type Ii, Somatic 56
Isolated Focal Cortical Dysplasia Type Iib 58
Isolated Focal Cortical Dysplasia Type Iia 58
Isolated Focal Cortical Dysplasia Type Ii 58
Focal Cortical Dysplasia of Taylor; Fcdt 56
Isolated Focal Cortical Dysplasia Type 2 58
Focal Cortical Dysplasia, Type Iia 73
Focal Cortical Dysplasia, Type Iib 73
Dysplasia, Cortical, Focal Type Ii 39
Cortical Dysplasia of Taylor; Cdt 56
Isolated Focal Cortical Dysplasia 58
Cortical Dysplasia, Taylor Type 58
Focal Cortical Dysplasia 2 73
Epilepsy Due to Fcd 58
Fcd Type Iib 58
Fcd Type Iia 58
Fcd Type Ii 58
Fcd Iia 73
Fcd Iib 73
Fcord2a 73
Fcord2b 73
Cdtbc 73
Fcdbc 73
Cdtd 73

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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 607341
KEGG 36 H01251
MeSH 43 D001927
ICD10 via Orphanet 33 Q04.8
UMLS via Orphanet 72 C1846385 C2938983
UMLS 71 C1846385 C1846388 C1846389

Summaries for Focal Cortical Dysplasia, Type Ii

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.

Related Diseases for Focal Cortical Dysplasia, Type Ii

Diseases related to Focal Cortical Dysplasia, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 hemimegalencephaly 30.2 MTOR GFAP
2 tuberous sclerosis 1 30.2 TSC2 TSC1 MTOR
3 ganglioglioma 29.5 TSC2 TSC1 TP53 GFAP
4 focal epilepsy 29.3 TSC2 TSC1 RBFOX3 MTOR GFAP
5 colon adenocarcinoma 29.3 TP53 BCL2L1 BCL2 BAX
6 tuberous sclerosis 29.1 TSC2 TSC1 TP53 MTOR GFAP
7 epilepsy 29.1 TSC2 TSC1 RBFOX3 MTOR GFAP
8 lung disease 28.7 TSC2 TSC1 TP53 TLR4 HMGB1
9 lung cancer susceptibility 3 28.6 TSC2 TP53 MTOR BCL2L1 BCL2 BAX
10 isolated focal cortical dysplasia type ib 12.5
11 isolated focal cortical dysplasia type ic 12.5
12 isolated focal cortical dysplasia type ia 12.5
13 corneal dystrophy, fuchs endothelial, 3 11.6
14 alcohol use disorder 10.8
15 alcohol dependence 10.6
16 corneal dystrophy 10.4
17 lissencephaly with cerebellar hypoplasia 10.4 TSC2 TSC1
18 uterus perivascular epithelioid cell tumor 10.4 TSC2 TSC1
19 hepatic angiomyolipoma 10.4 TSC2 MTOR
20 clostridium difficile colitis 10.3
21 liver disease 10.3
22 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3 TSC2 TSC1
23 kashin-beck disease 10.3 BCL2 BAX
24 indolent b-cell non-hodgkin lymphoma 10.3 BCL2L1 BAX
25 diarrhea 10.3
26 parkinson disease, mitochondrial 10.3 BCL2L1 BAX
27 subependymoma 10.3 TSC2 GFAP
28 temporal lobe epilepsy 10.3
29 campylobacteriosis 10.2
30 liver cirrhosis 10.2
31 extramedullary plasmacytoma 10.2 BCL2L1 BCL2
32 heart cancer 10.2 TSC2 TSC1 MTOR
33 malignant teratoma 10.2 BCL2 BAX
34 kidney angiomyolipoma 10.2 TSC2 TSC1 MTOR
35 angiomyolipoma 10.2 TSC2 TSC1 MTOR
36 subependymal glioma 10.2 TSC2 TSC1 MTOR
37 kidney benign neoplasm 10.2 TSC2 TSC1 MTOR
38 corneal dystrophy, fleck 10.2 TSC2 TSC1 MTOR
39 large cell acanthoma 10.2 TP53 MTOR
40 proteus syndrome 10.2 TSC2 TSC1 MTOR
41 acanthoma 10.2 TP53 MTOR
42 cystic kidney disease 10.2 TSC2 TSC1 MTOR
43 actinic cheilitis 10.2 TP53 BCL2
44 tuberous sclerosis 2 10.2 TSC2 TSC1 MTOR
45 argininosuccinic aciduria 10.2
46 withdrawal disorder 10.2
47 dementia 10.2
48 hepatitis 10.2
49 pulmonary embolism 10.2
50 congenital disorders of n-linked glycosylation and multiple pathway 10.2

Graphical network of the top 20 diseases related to Focal Cortical Dysplasia, Type Ii:



Diseases related to Focal Cortical Dysplasia, Type Ii

Symptoms & Phenotypes for Focal Cortical Dysplasia, Type Ii

Human phenotypes related to Focal Cortical Dysplasia, Type Ii:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cognitive impairment 31 HP:0100543
3 focal impaired awareness seizure 31 HP:0002384
4 hemiparesis 31 HP:0001269
5 cortical dysplasia 31 HP:0002539
6 astrocytosis 31 HP:0002446
7 focal white matter lesions 31 HP:0007042
8 hemimegalencephaly 31 HP:0007206
9 focal cortical dysplasia type ii 31 HP:0032051

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
impaired cognition
seizures, severe, drug-resistant, intractable
seizures occur multiple times per day
complex partial seizures, often with secondary generalization, are the most common type
focal neurologic deficits (i.e., hemiparesis)
more

Clinical features from OMIM:

607341

GenomeRNAi Phenotypes related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 9.73 BCL2L1 MTOR
2 Decreased viability with paclitaxel GR00179-A-2 9.73 BCL2L1 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.73 BCL2L1 MTOR
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 BCL2L1 RBFOX3
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 BAX BCL2L1 RBFOX3 TP53
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 BAX TP53

MGI Mouse Phenotypes related to Focal Cortical Dysplasia, Type Ii:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 BAX BCL2 BCL2L1 GFAP MTOR TLR4
2 cellular MP:0005384 10.15 BAX BCL2 BCL2L1 GFAP MTOR TLR4
3 growth/size/body region MP:0005378 10.11 BAX BCL2 BCL2L1 GFAP MTOR TLR4
4 homeostasis/metabolism MP:0005376 10.09 BAX BCL2 BCL2L1 GFAP MTOR TLR4
5 mortality/aging MP:0010768 10.06 BAX BCL2 BCL2L1 GFAP MTOR TLR4
6 cardiovascular system MP:0005385 10.05 BCL2 GFAP MTOR TLR4 TP53 TSC1
7 endocrine/exocrine gland MP:0005379 10.02 BAX BCL2 BCL2L1 MTOR TP53 TSC1
8 muscle MP:0005369 9.91 BAX BCL2 GFAP MTOR TLR4 TP53
9 nervous system MP:0003631 9.91 BAX BCL2 BCL2L1 GFAP MTOR TLR4
10 neoplasm MP:0002006 9.87 BAX BCL2 BCL2L1 TLR4 TP53 TSC1
11 renal/urinary system MP:0005367 9.5 BAX BCL2 MTOR TLR4 TP53 TSC1
12 pigmentation MP:0001186 9.46 BCL2 TLR4 TP53 TSC1
13 reproductive system MP:0005389 9.17 BAX BCL2 BCL2L1 TLR4 TP53 TSC1

Drugs & Therapeutics for Focal Cortical Dysplasia, Type Ii

Drugs for Focal Cortical Dysplasia, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
2 Immunosuppressive Agents Phase 2
3 Anticonvulsants Phase 2
4 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Double-blind, Placebo-controlled Cross Over Study Investigating the Anti-epileptic Efficacy of Afinitor (Everolimus) in Patients With Refractory Seizures Who Have Focal Cortical Dysplasia Type II (FCD II) Recruiting NCT03198949 Phase 2 Afinitor (everolimus)
2 MELD as an Adjunct for SEEG Trajectories (MAST Trial) Not yet recruiting NCT04383028
3 A Randomised Controlled Trial to Compare Seizure Remission Outcome Following Resective Surgery With or Without Prior Treatment With Ketogenic Diet in Children With Epilepsy the Result of Focal Cortical Dysplasia Type II Terminated NCT02261753

Search NIH Clinical Center for Focal Cortical Dysplasia, Type Ii

Genetic Tests for Focal Cortical Dysplasia, Type Ii

Genetic tests related to Focal Cortical Dysplasia, Type Ii:

# Genetic test Affiliating Genes
1 Focal Cortical Dysplasia Type Ii 29 MTOR TSC1 TSC2

Anatomical Context for Focal Cortical Dysplasia, Type Ii

MalaCards organs/tissues related to Focal Cortical Dysplasia, Type Ii:

40
Brain, Cortex

Publications for Focal Cortical Dysplasia, Type Ii

Articles related to Focal Cortical Dysplasia, Type Ii:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 56 6 61
25799227 2015
2
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 56 6
28215400 2017
3
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 56 6
27830187 2016
4
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 56 6
26018084 2015
5
Adult-onset epilepsy in focal cortical dysplasia of Taylor type. 61 56
15911808 2005
6
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 6
27159400 2016
7
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 6
25878179 2015
8
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 6
19175396 2009
9
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 6
16114042 2005
10
Distinct clinicopathologic subtypes of cortical dysplasia of Taylor. 56
15642904 2005
11
Terminology and classification of the cortical dysplasias. 56
15037671 2004
12
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. 6
12112044 2002
13
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. 6
10227394 1999
14
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. 6
9328481 1997
15
Glioneuronal malformative lesions and dysembryoplastic neuroepithelial tumors in patients with chronic pharmacoresistant epilepsies. 56
7876892 1995
16
Focal dysplasia of the cerebral cortex in epilepsy. 56
5096551 1971
17
Biological mechanisms influencing the outcome of seizures in response to fever. 56
5282881 1971
18
Somatic variants in new candidate genes identified in focal cortical dysplasia type II. 61
32216069 2020
19
Filamin A inhibition reduces seizure activity in a mouse model of focal cortical malformations. 61
32075941 2020
20
Clinical features and surgical outcomes in young children with focal cortical dysplasia type II. 61
31368639 2020
21
Assessment of genetic variant burden in epilepsy-associated brain lesions. 61
31358956 2019
22
Multiscale Functional Clustering Reveals Frequency Dependent Brain Organization in Type II Focal Cortical Dysplasia With Sleep Hypermotor Epilepsy. 61
30716026 2019
23
Low entropy of interictal gamma oscillations is a biomarker of the seizure onset zone in focal cortical dysplasia type II. 61
31150993 2019
24
A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II. 61
31337748 2019
25
Dynamics of seizure-induced behavioral and autonomic arousal. 61
30008021 2019
26
A connectome-based mechanistic model of focal cortical dysplasia. 61
30726864 2019
27
Single stage epilepsy surgery in children and adolescents with focal cortical dysplasia type II - Prognostic value of the intraoperative electrocorticogram. 61
30472578 2019
28
Superior Frontal Sulcus Focal Cortical Dysplasia Type II: An MRI, PET, and Quantified SEEG Study. 61
31920906 2019
29
Automated detection of focal cortical dysplasia type II with surface-based magnetic resonance imaging postprocessing and machine learning. 61
29637549 2018
30
Multinodular and vacuolating neuronal tumors in epilepsy: dysplasia or neoplasia? 61
28833756 2018
31
Coregistrating magnetic source and magnetic resonance imaging for epilepsy surgery in focal cortical dysplasia. 61
29984157 2018
32
Magnetoencephalographic Characteristics of Cortical Dysplasia in Children. 61
29074057 2018
33
Intraoperative Magnetic-Resonance Tomography and Neuronavigation During Resection of Focal Cortical Dysplasia Type II in Adult Epilepsy Surgery Offers Better Seizure Outcomes. 61
28951272 2018
34
Upregulation of HMGB1-TLR4 inflammatory pathway in focal cortical dysplasia type II. 61
29382328 2018
35
Small Lesion Size Is Associated with Sleep-Related Epilepsy in Focal Cortical Dysplasia Type II. 61
29541057 2018
36
The spectrum of structural and functional network alterations in malformations of cortical development. 61
28899007 2017
37
Elevated Expression of TRPC4 in Cortical Lesions of Focal Cortical Dysplasia II and Tuberous Sclerosis Complex. 61
28455787 2017
38
Surgical outcomes in two different age groups with Focal Cortical Dysplasia type II: Any real difference? 61
28410464 2017
39
Multimodal MRI profiling of focal cortical dysplasia type II. 61
28130467 2017
40
Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series. 61
27885945 2017
41
Successful surgical management of New Onset Refractory Status Epilepticus (NORSE) presenting with gelastic seizures in a 3 year old girl. 61
28725554 2017
42
Centre of epileptogenic tubers generate and propagate seizures in tuberous sclerosis. 61
27497492 2016
43
Somatic mutations rather than viral infection classify focal cortical dysplasia type II as mTORopathy. 61
26840044 2016
44
Brain somatic mutations in MTOR leading to focal cortical dysplasia. 61
26779999 2016
45
Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II. 61
25957585 2015
46
Dynamic changes of interictal post-spike slow waves toward seizure onset in focal cortical dysplasia type II. 61
25499612 2015
47
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 61
25722288 2015
48
Presurgical Evaluation and Epilepsy Surgery in MRI Negative Resistant Epilepsy of Childhood with Good Outcome. 61
26617141 2015
49
A quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II. 61
23551043 2013
50
Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology. 61
22695739 2012

Variations for Focal Cortical Dysplasia, Type Ii

ClinVar genetic disease variations for Focal Cortical Dysplasia, Type Ii:

6 (show top 50) (show all 325) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTOR NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)SNV Pathogenic 417723 rs1085307113 1:11174395-11174395 1:11114338-11114338
2 MTOR NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln)SNV Pathogenic 417724 rs1085307113 1:11174395-11174395 1:11114338-11114338
3 MTOR NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly)SNV Pathogenic 417727 rs1085307114 1:11217312-11217312 1:11157255-11157255
4 MTOR NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)SNV Pathogenic 584432 rs587777893 1:11188164-11188164 1:11128107-11128107
5 TSC2 NM_000548.5(TSC2):c.1458del (p.Ser487fs)deletion Pathogenic 626195 rs1567437155 16:2114287-2114287 16:2064286-2064286
6 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)SNV Pathogenic 12396 rs45517179 16:2114342-2114342 16:2064341-2064341
7 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)SNV Pathogenic 12397 rs28934872 16:2120572-2120572 16:2070571-2070571
8 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)SNV Pathogenic 48796 rs118203542 9:135781440-135781440 9:132906053-132906053
9 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)SNV Pathogenic 48885 rs118203631 9:135779172-135779172 9:132903785-132903785
10 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)SNV Pathogenic 49083 rs118203427 9:135796805-135796805 9:132921418-132921418
11 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)SNV Pathogenic 49471 rs45517412 16:2138294-2138294 16:2088293-2088293
12 TSC2 NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)SNV Pathogenic 49643 rs45469298 16:2120571-2120571 16:2070570-2070570
13 TSC2 NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)SNV Pathogenic 49930 rs45517395 16:2138118-2138118 16:2088117-2088117
14 TSC2 NM_000548.5(TSC2):c.5161-1G>ASNV Pathogenic 49943 rs45517404 16:2138227-2138227 16:2088226-2088226
15 TSC2 NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)SNV Pathogenic 50131 rs45517222 16:2122880-2122880 16:2072879-2072879
16 MTOR NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)SNV Pathogenic/Likely pathogenic 156703 rs587777894 1:11184573-11184573 1:11124516-11124516
17 MTOR NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)SNV Pathogenic/Likely pathogenic 376129 rs587777894 1:11184573-11184573 1:11124516-11124516
18 MTOR NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)SNV Pathogenic/Likely pathogenic 376130 rs1057519779 1:11217299-11217299 1:11157242-11157242
19 TSC2 NM_000548.5(TSC2):c.2318dup (p.Leu773fs)duplication Likely pathogenic 828015 16:2122945-2122946 16:2072944-2072945
20 TSC1 NM_000368.4(TSC1):c.1033del (p.Thr345fs)deletion Likely pathogenic 626194 rs1564488264 9:135786497-135786497 9:132911110-132911110
21 TSC2 NM_000548.5(TSC2):c.225+1G>ASNV Likely pathogenic 626196 rs1567387207 16:2100488-2100488 16:2050487-2050487
22 TSC2 NM_000548.5(TSC2):c.2545+5G>CSNV Likely pathogenic 430442 rs1131691965 16:2124395-2124395 16:2074394-2074394
23 TSC1 NM_000368.4(TSC1):c.168G>A (p.Pro56=)SNV Conflicting interpretations of pathogenicity 466038 rs781483110 9:135802630-135802630 9:132927243-132927243
24 TSC2 NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)SNV Conflicting interpretations of pathogenicity 468061 rs1555513911 16:2134286-2134286 16:2084285-2084285
25 TSC2 NM_000548.5(TSC2):c.2295C>G (p.Ala765=)SNV Conflicting interpretations of pathogenicity 626038 rs45509500 16:2122924-2122924 16:2072923-2072923
26 TSC1 NM_000368.4(TSC1):c.2636T>C (p.Met879Thr)SNV Conflicting interpretations of pathogenicity 660283 9:135772987-135772987 9:132897600-132897600
27 TSC1 NM_000368.5(TSC1):c.2994C>T (p.Asp998=)SNV Conflicting interpretations of pathogenicity 699743 9:135772123-135772123 9:132896736-132896736
28 TSC1 NM_000368.5(TSC1):c.1734C>T (p.Thr578=)SNV Conflicting interpretations of pathogenicity 700043 9:135781231-135781231 9:132905844-132905844
29 TSC1 NM_000368.4(TSC1):c.64C>T (p.Arg22Trp)SNV Conflicting interpretations of pathogenicity 417731 rs749030456 9:135804196-135804196 9:132928809-132928809
30 MTOR NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile)SNV Conflicting interpretations of pathogenicity 408296 rs139043855 1:11189856-11189856 1:11129799-11129799
31 TSC1 NM_000368.4(TSC1):c.2323C>T (p.Leu775Phe)SNV Conflicting interpretations of pathogenicity 411208 rs868755168 9:135778060-135778060 9:132902673-132902673
32 TSC1 NM_000368.4(TSC1):c.519G>A (p.Ala173=)SNV Conflicting interpretations of pathogenicity 416678 rs768999400 9:135797350-135797350 9:132921963-132921963
33 TSC1 NM_000368.4(TSC1):c.2303G>A (p.Arg768His)SNV Conflicting interpretations of pathogenicity 411249 rs1033725987 9:135778080-135778080 9:132902693-132902693
34 TSC2 NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)SNV Conflicting interpretations of pathogenicity 468021 rs1060500939 16:2130319-2130319 16:2080318-2080318
35 TSC2 NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)SNV Conflicting interpretations of pathogenicity 468015 rs749633483 16:2130203-2130203 16:2080202-2080202
36 TSC1 NM_000368.4(TSC1):c.518C>T (p.Ala173Val)SNV Conflicting interpretations of pathogenicity 486571 rs777484049 9:135797351-135797351 9:132921964-132921964
37 TSC2 NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)SNV Conflicting interpretations of pathogenicity 535866 rs764840082 16:2121861-2121861 16:2071860-2071860
38 TSC2 NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)SNV Conflicting interpretations of pathogenicity 535887 rs749593050 16:2122881-2122881 16:2072880-2072880
39 TSC2 NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)SNV Conflicting interpretations of pathogenicity 536003 rs746197874 16:2129653-2129653 16:2079652-2079652
40 TSC2 NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)SNV Conflicting interpretations of pathogenicity 405943 rs760413281 16:2138300-2138300 16:2088299-2088299
41 TSC2 NM_000548.5(TSC2):c.4086C>T (p.Val1362=)SNV Conflicting interpretations of pathogenicity 413692 rs763847509 16:2134309-2134309 16:2084308-2084308
42 TSC2 NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu)SNV Conflicting interpretations of pathogenicity 406039 rs768864353 16:2121853-2121853 16:2071852-2071852
43 TSC1 NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys)SNV Conflicting interpretations of pathogenicity 41690 rs118203532 9:135781505-135781505 9:132906118-132906118
44 TSC1 NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln)SNV Conflicting interpretations of pathogenicity 41694 rs199755731 9:135779171-135779171 9:132903784-132903784
45 TSC1 NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser)SNV Conflicting interpretations of pathogenicity 41696 rs118203742 9:135772014-135772014 9:132896627-132896627
46 TSC1 NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu)SNV Conflicting interpretations of pathogenicity 41698 rs201867031 9:135771689-135771689 9:132896302-132896302
47 TSC1 NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)SNV Conflicting interpretations of pathogenicity 48931 rs118203670 9:135778098-135778098 9:132902711-132902711
48 TSC1 NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)SNV Conflicting interpretations of pathogenicity 5103 rs118203657 9:135779052-135779052 9:132903665-132903665
49 TSC2 NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)SNV Conflicting interpretations of pathogenicity 41724 rs150195368 16:2110765-2110765 16:2060764-2060764
50 TSC2 NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)SNV Conflicting interpretations of pathogenicity 41740 rs45517333 16:2134448-2134448 16:2084447-2084447

UniProtKB/Swiss-Prot genetic disease variations for Focal Cortical Dysplasia, Type Ii:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MTOR p.Ser2215Tyr VAR_041543 rs587777894
2 MTOR p.Tyr1450Asp VAR_078826
3 MTOR p.Trp1456Gly VAR_078827 rs108530711
4 MTOR p.Ala1459Asp VAR_078828
5 MTOR p.Ala1459Ser VAR_078829
6 MTOR p.Leu1460Pro VAR_078830 rs105751977
7 MTOR p.Cys1483Arg VAR_078831 rs105751991
8 MTOR p.Thr1977Lys VAR_078837 rs587777893
9 MTOR p.Arg2193Cys VAR_078838
10 MTOR p.Ser2215Phe VAR_078839 rs587777894
11 MTOR p.Leu2427Pro VAR_078841 rs108530711
12 MTOR p.Leu2427Gln VAR_078842 rs108530711
13 TSC1 p.Arg22Trp VAR_078844 rs749030456
14 TSC1 p.Arg204Cys VAR_078846 rs106050502
15 TSC2 p.Val1547Ile VAR_078847 rs745895675

Expression for Focal Cortical Dysplasia, Type Ii

Search GEO for disease gene expression data for Focal Cortical Dysplasia, Type Ii.

Pathways for Focal Cortical Dysplasia, Type Ii

Pathways related to Focal Cortical Dysplasia, Type Ii according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 Insulin signaling pathway hsa04910

Pathways related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 TSC2 TSC1 TP53 MTOR BCL2L1 BCL2
2
Show member pathways
13.35 TSC2 TSC1 TP53 TLR4 MTOR BCL2
3
Show member pathways
13.17 TP53 TLR4 MTOR HMGB1 BCL2 BAX
4
Show member pathways
13.04 TSC2 TP53 MTOR BCL2L1 BCL2 BAX
5
Show member pathways
12.93 TSC2 TSC1 TP53 MTOR BAX
6 12.82 TP53 MTOR BCL2L1 BCL2 BAX
7
Show member pathways
12.8 TP53 TLR4 BCL2L1 BCL2 BAX
8
Show member pathways
12.8 TSC2 TP53 MTOR BCL2L1 BCL2 BAX
9
Show member pathways
12.76 TSC2 TSC1 TP53 TLR4 MTOR BCL2L1
10
Show member pathways
12.74 TP53 MTOR BCL2L1 BCL2 BAX
11
Show member pathways
12.7 TP53 MTOR BCL2L1 BCL2 BAX
12
Show member pathways
12.68 TP53 TLR4 HMGB1 BCL2L1 BCL2 BAX
13
Show member pathways
12.67 TP53 BCL2L1 BCL2 BAX
14
Show member pathways
12.6 TP53 MTOR BCL2L1 BCL2 BAX
15
Show member pathways
12.6 TSC2 TSC1 TP53 MTOR BCL2 BAX
16 12.6 TSC2 TSC1 TP53 MTOR BCL2L1 BCL2
17
Show member pathways
12.57 TLR4 MTOR BCL2L1 BCL2
18
Show member pathways
12.56 TP53 BCL2L1 BCL2 BAX
19
Show member pathways
12.55 TSC2 TSC1 TP53 TLR4 MTOR BCL2L1
20
Show member pathways
12.49 TSC2 TSC1 TP53 MTOR
21
Show member pathways
12.48 TSC2 TSC1 TP53 MTOR
22
Show member pathways
12.47 MTOR BCL2L1 BCL2 BAX
23
Show member pathways
12.43 MTOR GFAP BCL2L1 BCL2
24
Show member pathways
12.4 TP53 MTOR BCL2L1 BCL2 BAX
25
Show member pathways
12.34 TLR4 MTOR BCL2L1 BCL2
26
Show member pathways
12.33 TSC2 TP53 BCL2L1 BCL2 BAX
27
Show member pathways
12.32 TSC2 TP53 MTOR BAX
28 12.29 TP53 TLR4 MTOR BCL2L1 BCL2 BAX
29 12.28 TP53 MTOR HMGB1 BCL2
30
Show member pathways
12.26 TSC2 TSC1 TP53 MTOR BCL2L1 BAX
31
Show member pathways
12.25 TP53 BCL2L1 BCL2 BAX
32 12.22 TSC2 TSC1 MTOR
33 12.22 TP53 BCL2L1 BAX
34
Show member pathways
12.21 TLR4 BCL2L1 BCL2
35
Show member pathways
12.21 TLR4 HMGB1 BCL2 BAX
36 12.2 BCL2L1 BCL2 BAX
37 12.19 TLR4 BCL2L1 BCL2
38 12.19 TLR4 BCL2 BAX
39 12.19 TP53 TLR4 BCL2L1 BAX
40
Show member pathways
12.17 TSC2 TSC1 MTOR
41 12.16 TSC2 TSC1 TP53 MTOR
42
Show member pathways
12.07 TSC2 TSC1 TP53 MTOR BAX
43 12.06 TSC2 TP53 BCL2 BAX
44
Show member pathways
12.04 TP53 MTOR BCL2L1
45
Show member pathways
12.03 TP53 BCL2L1 BCL2 BAX
46 12 TSC2 TP53 MTOR
47 12 TP53 TLR4 GFAP
48 11.99 TP53 BCL2 BAX
49 11.99 TP53 HMGB1 BCL2 BAX
50 11.97 TP53 BCL2L1 BCL2

GO Terms for Focal Cortical Dysplasia, Type Ii

Cellular components related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 TSC2 TSC1 TP53 TLR4 RBFOX3 MTOR
2 mitochondrial membrane GO:0031966 9.54 BCL2L1 BCL2 BAX
3 mitochondrial outer membrane GO:0005741 9.46 MTOR BCL2L1 BCL2 BAX
4 pore complex GO:0046930 9.32 BCL2 BAX
5 Bcl-2 family protein complex GO:0097136 9.26 BCL2L1 BAX
6 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 10.02 TSC2 TP53 HMGB1 BAX
2 cellular response to DNA damage stimulus GO:0006974 9.99 TP53 HMGB1 BCL2 BAX
3 negative regulation of cell proliferation GO:0008285 9.93 TSC2 TSC1 TP53 BCL2 BAX
4 regulation of apoptotic process GO:0042981 9.91 TP53 BCL2L1 BCL2 BAX
5 cell proliferation GO:0008283 9.86 BCL2L1 BCL2 BAX
6 negative regulation of neuron apoptotic process GO:0043524 9.85 BCL2L1 BCL2 BAX
7 cellular response to hypoxia GO:0071456 9.84 TP53 MTOR BCL2
8 kidney development GO:0001822 9.83 TSC1 BCL2 BAX
9 male gonad development GO:0008584 9.82 BCL2L1 BCL2 BAX
10 post-embryonic development GO:0009791 9.79 MTOR BCL2 BAX
11 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.73 BCL2L1 BCL2 BAX
12 positive regulation of interleukin-8 production GO:0032757 9.72 TLR4 HMGB1
13 ovarian follicle development GO:0001541 9.72 BCL2L1 BCL2 BAX
14 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.71 BCL2L1 BCL2
15 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.71 TP53 BAX
16 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.71 TP53 BCL2
17 activation of innate immune response GO:0002218 9.71 TLR4 HMGB1
18 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.71 TP53 BAX
19 regulation of protein kinase activity GO:0045859 9.7 TSC1 MTOR
20 positive regulation of interleukin-12 production GO:0032735 9.7 TLR4 HMGB1
21 positive regulation of interleukin-10 production GO:0032733 9.7 TLR4 HMGB1
22 regulation of neuron apoptotic process GO:0043523 9.7 TP53 BAX
23 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.7 BCL2L1 BCL2 BAX
24 mitochondrion morphogenesis GO:0070584 9.69 BCL2L1 BAX
25 negative regulation of reactive oxygen species metabolic process GO:2000378 9.69 TP53 BCL2
26 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.69 TP53 BCL2 BAX
27 B cell homeostasis GO:0001782 9.68 BCL2 BAX
28 necroptotic process GO:0070266 9.68 TP53 TLR4
29 positive regulation of glial cell proliferation GO:0060252 9.67 MTOR GFAP
30 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.67 BCL2 BAX
31 astrocyte development GO:0014002 9.67 TLR4 GFAP
32 negative regulation of macroautophagy GO:0016242 9.66 TSC1 MTOR
33 regulation of cell-matrix adhesion GO:0001952 9.65 TSC1 BCL2
34 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.65 TLR4 HMGB1
35 regulation of cell cycle GO:0051726 9.65 TSC2 TSC1 TP53 BCL2 BAX
36 anoikis GO:0043276 9.64 TSC2 MTOR
37 regulation of mitochondrial membrane permeability GO:0046902 9.63 BCL2L1 BCL2
38 negative regulation of cell size GO:0045792 9.63 TSC1 MTOR
39 germ cell development GO:0007281 9.63 MTOR BCL2L1 BAX
40 response to salt stress GO:0009651 9.62 TP53 BAX
41 leukocyte homeostasis GO:0001776 9.62 BCL2 BAX
42 regulation of mitochondrial membrane potential GO:0051881 9.61 BCL2L1 BCL2 BAX
43 regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902108 9.6 TP53 BAX
44 negative regulation of mitophagy GO:1901525 9.59 TSC2 TP53
45 T cell lineage commitment GO:0002360 9.58 TP53 BCL2
46 positive regulation of neuron maturation GO:0014042 9.58 MTOR BCL2
47 cell aging GO:0007569 9.58 TP53 MTOR BCL2
48 B cell lineage commitment GO:0002326 9.57 TP53 BCL2
49 response to gamma radiation GO:0010332 9.54 TP53 BCL2 BAX
50 apoptotic mitochondrial changes GO:0008637 9.5 BCL2L1 BCL2 BAX

Molecular functions related to Focal Cortical Dysplasia, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 TP53 TLR4 MTOR GFAP BCL2L1 BCL2
2 chaperone binding GO:0051087 9.43 TSC1 TP53 BAX
3 protein heterodimerization activity GO:0046982 9.35 TP53 TLR4 BCL2L1 BCL2 BAX
4 BH3 domain binding GO:0051434 8.8 BCL2L1 BCL2 BAX

Sources for Focal Cortical Dysplasia, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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