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MCID: FCL081
MIFTS: 57

Focal Cortical Dysplasia, Type Ii

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Focal Cortical Dysplasia, Type Ii

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MalaCards integrated aliases for Focal Cortical Dysplasia, Type Ii:

Name: Focal Cortical Dysplasia, Type Ii 57 75
Focal Cortical Dysplasia of Taylor 57 53 75 37 40 73
Focal Cortical Dysplasia Type Ii 53 29 6
Cortical Dysplasia of Taylor 57 53 75
Fcdt 57 53 75
Cdt 57 53 75
Cortical Dysplasia of Taylor, Dysplasia Only 75 73
Focal Cortical Dysplasia Type 2 53 75
Fcord2 57 75
Fcd2 57 75
Focal Cortical Dysplasia of Taylor Balloon Cell Type 75
Cortical Dysplasia of Taylor Without Balloon Cells 75
Focal Cortical Dysplasia, Taylor Balloon Cell Type 13
Cortical Dysplasia of Taylor with Balloon Cells 75
Focal Cortical Dysplasia of Taylor, Type Iib 73
Focal Cortical Dysplasia, Type Ii, Somatic 57
Isolated Focal Cortical Dysplasia Type Iib 59
Isolated Focal Cortical Dysplasia Type Iia 59
Isolated Focal Cortical Dysplasia Type Ii 59
Focal Cortical Dysplasia of Taylor; Fcdt 57
Isolated Focal Cortical Dysplasia Type 2 59
Focal Cortical Dysplasia, Type Iia 75
Focal Cortical Dysplasia, Type Iib 75
Cortical Dysplasia of Taylor; Cdt 57
Isolated Focal Cortical Dysplasia 59
Cortical Dysplasia, Taylor Type 59
Focal Cortical Dysplasia 2 75
Epilepsy Due to Fcd 59
Fcd Type Iib 59
Fcd Type Iia 59
Fcd Type Ii 59
Fcd Iia 75
Fcd Iib 75
Fcord2a 75
Fcord2b 75
Cdtbc 75
Fcdbc 75
Cdtd 75

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
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 607341
ICD10 via Orphanet 34 Q04.8
UMLS via Orphanet 74 C1846385 C2938983
MeSH 44 D001927
KEGG 37 H01251
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Summaries for Focal Cortical Dysplasia, Type Ii

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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 1 and tuberous sclerosis. 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. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and hemiparesis

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)

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Related Diseases for Focal Cortical Dysplasia, Type Ii

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 30.5 TSC1 TSC2
2 tuberous sclerosis 30.3 MTOR TSC1 TSC2
3 isolated focal cortical dysplasia type ib 12.2
4 isolated focal cortical dysplasia type ic 12.2
5 isolated focal cortical dysplasia type ia 12.2
6 isolated focal cortical dysplasia type i 12.2
7 corneal dystrophy, fuchs endothelial, 3 11.3
8 multilocular clear cell renal cell carcinoma 10.5 TSC1 TSC2
9 hepatic angiomyolipoma 10.4 MTOR TSC2
10 lissencephaly with cerebellar hypoplasia 10.4 TSC1 TSC2
11 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4 TSC1 TSC2
12 corneal dystrophy, fleck 10.3 TSC1 TSC2
13 alcohol abuse 10.3
14 acute t cell leukemia 10.2 BAX MTOR
15 subependymal glioma 10.1 MTOR TSC1 TSC2
16 kidney angiomyolipoma 10.1 MTOR TSC1 TSC2
17 benign ependymoma 10.1 MTOR TSC1 TSC2
18 kidney benign neoplasm 10.1 MTOR TSC1 TSC2
19 subependymal giant cell astrocytoma 10.1 MTOR TSC1 TSC2
20 angiomyolipoma 10.1 MTOR TSC1 TSC2
21 tuberous sclerosis 2 10.1 MTOR TSC1 TSC2
22 polycystic kidney disease 1 with or without polycystic liver disease 10.1 MTOR TSC1 TSC2
23 lymphangioleiomyomatosis 10.1 MTOR TSC1 TSC2
24 focal epilepsy 10.1 MTOR TSC1 TSC2
25 autosomal dominant polycystic kidney disease 10.1 MTOR TSC1 TSC2
26 kashin-beck disease 10.0 BAX BCL2
27 alcohol dependence 10.0
28 malignant teratoma 10.0 BAX BCL2
29 bartholin's gland benign neoplasm 10.0 MTOR TP53
30 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
31 corneal dystrophy 9.9
32 carbuncle 9.9 BAX BCL2L1
33 cartilage-hair hypoplasia 9.9 BAX BCL2
34 cortical dysplasia, complex, with other brain malformations 7 9.9
35 epilepsy 9.9
36 fructose intolerance, hereditary 9.8
37 galactosemia 9.8
38 aging 9.8
39 deficiency anemia 9.8
40 diabetes mellitus 9.8
41 heart disease 9.8
42 iron deficiency anemia 9.8
43 iron metabolism disease 9.8
44 gingivitis 9.8
45 cumulative trauma disorders 9.8
46 overuse syndrome 9.8
47 repetitive motion disorders 9.8
48 ovary adenocarcinoma 9.6 BAX TP53
49 cervical carcinosarcoma 9.6 BCL2 TP53
50 testicular torsion 9.6 BCL2 TP53

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



Diseases related to Focal Cortical Dysplasia, Type Ii
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Symptoms & Phenotypes for Focal Cortical Dysplasia, Type Ii

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Focal Cortical Dysplasia, Type Ii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hemiparesis 32 HP:0001269
3 focal seizures with impairment of consciousness or awareness 32 HP:0002384
4 astrocytosis 32 HP:0002446
5 cortical dysplasia 32 HP:0002539
6 focal white matter lesions 32 HP:0007042
7 cognitive impairment 32 HP:0100543

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 9.58 MTOR BCL2L1
2 Decreased viability with paclitaxel GR00179-A-2 9.58 BCL2L1 MTOR
3 Decreased viability with paclitaxel GR00179-A-3 9.58 BCL2L1 MTOR

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

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 BAX BCL2 BCL2L1 GFI1B MTOR TP53
2 behavior/neurological MP:0005386 10.09 TSC1 TSC2 BAX BCL2 BCL2L1 MTOR
3 endocrine/exocrine gland MP:0005379 10.04 TSC1 TSC2 BAX BCL2 BCL2L1 MTOR
4 homeostasis/metabolism MP:0005376 10.03 TSC1 TSC2 BAX BCL2 BCL2L1 GFI1B
5 growth/size/body region MP:0005378 10.02 BAX BCL2 BCL2L1 MTOR TP53 TSC1
6 cardiovascular system MP:0005385 10.01 GFI1B MTOR TP53 TSC1 TSC2 BCL2
7 hematopoietic system MP:0005397 10 BAX BCL2 BCL2L1 GFI1B MTOR TP53
8 embryo MP:0005380 9.99 BCL2 GFI1B MTOR TP53 TSC1 TSC2
9 mortality/aging MP:0010768 9.97 BAX BCL2 BCL2L1 GFI1B MTOR TP53
10 integument MP:0010771 9.88 BCL2 BCL2L1 GFI1B TP53 TSC1 TSC2
11 neoplasm MP:0002006 9.73 BAX BCL2 BCL2L1 TP53 TSC1 TSC2
12 muscle MP:0005369 9.72 BAX BCL2 MTOR TP53 TSC1
13 nervous system MP:0003631 9.7 BAX BCL2 BCL2L1 MTOR TP53 TSC1
14 renal/urinary system MP:0005367 9.43 BAX BCL2 MTOR TP53 TSC1 TSC2
15 reproductive system MP:0005389 9.1 BAX BCL2 BCL2L1 TP53 TSC1 TSC2
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Drugs & Therapeutics for Focal Cortical Dysplasia, Type Ii

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
2
Everolimus Approved Phase 3 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 3
5 Antibiotics, Antitubercular Phase 3
6 Immunosuppressive Agents Phase 3
7 Anticonvulsants Phase 3
8 Anti-Infective Agents Phase 3
9 Antifungal Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Investigating the Anti-epileptic Efficacy of Afinitor (Everolimus) in Patients With Refractory Seizures Who Have Focal Cortical Dysplasia Type II (FCD II) Not yet recruiting NCT03198949 Phase 3 Afinitor (everolimus)
2 Evaluating Dietary Intervention Before surgicaL Treatment for Epilepsy Terminated NCT02261753 Not Applicable

Search NIH Clinical Center for Focal Cortical Dysplasia, Type Ii

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Genetic Tests for Focal Cortical Dysplasia, Type Ii

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Genetic tests related to Focal Cortical Dysplasia, Type Ii:

# Genetic test Affiliating Genes
1 Focal Cortical Dysplasia Type Ii 29 MTOR TSC1 TSC2
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Anatomical Context for Focal Cortical Dysplasia, Type Ii

About this section

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

41
Brain, Cortex
Sources

Publications for Focal Cortical Dysplasia, Type Ii

About this section

Articles related to Focal Cortical Dysplasia, Type Ii:

# Title Authors Year
1
Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II. ( 25957585 )
2015
2
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. ( 25799227 )
2015
3
Focal cortical dysplasia type II: biological features and clinical perspectives. ( 19679275 )
2009
4
Focal cortical dysplasia type II (malformations of cortical development) aberrantly expresses apoptotic proteins. ( 18594472 )
2008
5
Adult-onset epilepsy in focal cortical dysplasia of Taylor type. ( 15911808 )
2005
6
Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. ( 9194442 )
1997
Sources

Variations for 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)
# Symbol AA change Variation ID SNP ID
1 MTOR p.Ser2215Tyr VAR_041543
2 MTOR p.Tyr1450Asp VAR_078826
3 MTOR p.Trp1456Gly VAR_078827
4 MTOR p.Ala1459Asp VAR_078828
5 MTOR p.Ala1459Ser VAR_078829
6 MTOR p.Leu1460Pro VAR_078830
7 MTOR p.Cys1483Arg VAR_078831
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
12 MTOR p.Leu2427Gln VAR_078842
13 TSC1 p.Arg22Trp VAR_078844 rs749030456
14 TSC1 p.Arg204Cys VAR_078846
15 TSC2 p.Val1547Ile VAR_078847 rs745895675

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

6
(show top 50) (show all 328)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
2 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053
3 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh37 Chromosome 9, 135796805: 135796805
4 TSC1 NM_000368.4(TSC1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs118203427 GRCh38 Chromosome 9, 132921418: 132921418
5 MTOR NM_004958.3(MTOR): c.6644C> T (p.Ser2215Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777894 GRCh38 Chromosome 1, 11124516: 11124516
6 MTOR NM_004958.3(MTOR): c.6644C> T (p.Ser2215Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777894 GRCh37 Chromosome 1, 11184573: 11184573
7 TSC1 NM_000368.4(TSC1): c.3435G> A (p.Pro1145=) single nucleotide variant Benign/Likely benign rs140352085 GRCh37 Chromosome 9, 135771682: 135771682
8 TSC1 NM_000368.4(TSC1): c.3435G> A (p.Pro1145=) single nucleotide variant Benign/Likely benign rs140352085 GRCh38 Chromosome 9, 132896295: 132896295
9 TSC1 NM_000368.4(TSC1): c.3123C> G (p.Ser1041Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs753374839 GRCh38 Chromosome 9, 132896607: 132896607
10 TSC1 NM_000368.4(TSC1): c.3123C> G (p.Ser1041Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs753374839 GRCh37 Chromosome 9, 135771994: 135771994
11 TSC1 NM_000368.4(TSC1): c.2209-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs118203660 GRCh37 Chromosome 9, 135778183: 135778183
12 TSC1 NM_000368.4(TSC1): c.2209-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs118203660 GRCh38 Chromosome 9, 132902796: 132902796
13 TSC1 NM_000368.4(TSC1): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203450 GRCh38 Chromosome 9, 132912423: 132912423
14 TSC1 NM_000368.4(TSC1): c.772G> A (p.Glu258Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203450 GRCh37 Chromosome 9, 135787810: 135787810
15 TSC1 NM_000368.4(TSC1): c.1773G> A (p.Pro591=) single nucleotide variant Benign/Likely benign rs146578402 GRCh37 Chromosome 9, 135781192: 135781192
16 TSC1 NM_000368.4(TSC1): c.1773G> A (p.Pro591=) single nucleotide variant Benign/Likely benign rs146578402 GRCh38 Chromosome 9, 132905805: 132905805
17 TSC1 NM_000368.4(TSC1): c.915G> C (p.Gly305=) single nucleotide variant Benign/Likely benign rs397515293 GRCh37 Chromosome 9, 135786954: 135786954
18 TSC1 NM_000368.4(TSC1): c.915G> C (p.Gly305=) single nucleotide variant Benign/Likely benign rs397515293 GRCh38 Chromosome 9, 132911567: 132911567
19 TSC1 NM_000368.4(TSC1): c.876C> T (p.Val292=) single nucleotide variant Benign/Likely benign rs116756594 GRCh38 Chromosome 9, 132912319: 132912319
20 TSC1 NM_000368.4(TSC1): c.876C> T (p.Val292=) single nucleotide variant Benign/Likely benign rs116756594 GRCh37 Chromosome 9, 135787706: 135787706
21 TSC1 NM_000368.4(TSC1): c.819T> G (p.Asp273Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs148756522 GRCh37 Chromosome 9, 135787763: 135787763
22 TSC1 NM_000368.4(TSC1): c.819T> G (p.Asp273Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs148756522 GRCh38 Chromosome 9, 132912376: 132912376
23 TSC1 NM_000368.4(TSC1): c.273G> A (p.Ser91=) single nucleotide variant Benign/Likely benign rs115097221 GRCh37 Chromosome 9, 135801064: 135801064
24 TSC1 NM_000368.4(TSC1): c.273G> A (p.Ser91=) single nucleotide variant Benign/Likely benign rs115097221 GRCh38 Chromosome 9, 132925677: 132925677
25 TSC2 NM_000548.4(TSC2): c.4639G> A (p.Val1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs745895675 GRCh37 Chromosome 16, 2135300: 2135300
26 TSC2 NM_000548.4(TSC2): c.4639G> A (p.Val1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs745895675 GRCh38 Chromosome 16, 2085299: 2085299
27 TSC1 NM_000368.4(TSC1): c.*4763T> C single nucleotide variant Benign rs79470094 GRCh37 Chromosome 9, 135766859: 135766859
28 TSC1 NM_000368.4(TSC1): c.*4763T> C single nucleotide variant Benign rs79470094 GRCh38 Chromosome 9, 132891472: 132891472
29 TSC1 NM_000368.4(TSC1): c.*4631delT deletion Likely benign rs60000611 GRCh37 Chromosome 9, 135766991: 135766991
30 TSC1 NM_000368.4(TSC1): c.*4631delT deletion Likely benign rs60000611 GRCh38 Chromosome 9, 132891604: 132891604
31 TSC1 NM_000368.4(TSC1): c.*4356C> T single nucleotide variant Uncertain significance rs886063566 GRCh37 Chromosome 9, 135767266: 135767266
32 TSC1 NM_000368.4(TSC1): c.*4356C> T single nucleotide variant Uncertain significance rs886063566 GRCh38 Chromosome 9, 132891879: 132891879
33 TSC1 NM_000368.4(TSC1): c.*3830C> T single nucleotide variant Likely benign rs544931538 GRCh37 Chromosome 9, 135767792: 135767792
34 TSC1 NM_000368.4(TSC1): c.*3830C> T single nucleotide variant Likely benign rs544931538 GRCh38 Chromosome 9, 132892405: 132892405
35 TSC1 NM_000368.4(TSC1): c.*3729G> T single nucleotide variant Likely benign rs543396172 GRCh37 Chromosome 9, 135767893: 135767893
36 TSC1 NM_000368.4(TSC1): c.*3729G> T single nucleotide variant Likely benign rs543396172 GRCh38 Chromosome 9, 132892506: 132892506
37 TSC1 NM_000368.4(TSC1): c.*3543C> A single nucleotide variant Uncertain significance rs886063578 GRCh37 Chromosome 9, 135768079: 135768079
38 TSC1 NM_000368.4(TSC1): c.*3543C> A single nucleotide variant Uncertain significance rs886063578 GRCh38 Chromosome 9, 132892692: 132892692
39 TSC1 NM_000368.4(TSC1): c.*3448C> T single nucleotide variant Likely benign rs201092466 GRCh37 Chromosome 9, 135768174: 135768174
40 TSC1 NM_000368.4(TSC1): c.*3448C> T single nucleotide variant Likely benign rs201092466 GRCh38 Chromosome 9, 132892787: 132892787
41 TSC1 NM_000368.4(TSC1): c.*3330G> T single nucleotide variant Uncertain significance rs553475307 GRCh37 Chromosome 9, 135768292: 135768292
42 TSC1 NM_000368.4(TSC1): c.*3330G> T single nucleotide variant Uncertain significance rs553475307 GRCh38 Chromosome 9, 132892905: 132892905
43 TSC1 NM_000368.4(TSC1): c.*3284C> A single nucleotide variant Uncertain significance rs886063581 GRCh37 Chromosome 9, 135768338: 135768338
44 TSC1 NM_000368.4(TSC1): c.*3284C> A single nucleotide variant Uncertain significance rs886063581 GRCh38 Chromosome 9, 132892951: 132892951
45 TSC1 NM_000368.4(TSC1): c.*3047C> A single nucleotide variant Uncertain significance rs886063587 GRCh37 Chromosome 9, 135768575: 135768575
46 TSC1 NM_000368.4(TSC1): c.*3047C> A single nucleotide variant Uncertain significance rs886063587 GRCh38 Chromosome 9, 132893188: 132893188
47 TSC1 NM_000368.4(TSC1): c.*2897A> G single nucleotide variant Uncertain significance rs886063589 GRCh37 Chromosome 9, 135768725: 135768725
48 TSC1 NM_000368.4(TSC1): c.*2897A> G single nucleotide variant Uncertain significance rs886063589 GRCh38 Chromosome 9, 132893338: 132893338
49 TSC1 NM_000368.4(TSC1): c.*2829A> G single nucleotide variant Uncertain significance rs886063591 GRCh37 Chromosome 9, 135768793: 135768793
50 TSC1 NM_000368.4(TSC1): c.*2829A> G single nucleotide variant Uncertain significance rs886063591 GRCh38 Chromosome 9, 132893406: 132893406
Sources

Expression for Focal Cortical Dysplasia, Type Ii

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

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

37
# 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 76)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.73 BAX BCL2 BCL2L1 MTOR TP53 TSC1
2
Akt Signaling 64
Show member pathways
 13.31 BAX BCL2 MTOR TP53 TSC1 TSC2
3
Regulation of TP53 Activity 66
Show member pathways
 12.89 BAX MTOR TP53 TSC1 TSC2
4
TNFR1 Pathway 64
Show member pathways
 12.8 BAX BCL2 BCL2L1 TP53
5
Pathways in cancer 37
12.77 BAX BCL2 BCL2L1 MTOR TP53
6
Endometrial cancer 37
Show member pathways
 12.73 BAX BCL2 BCL2L1 MTOR TP53 TSC2
7
Apoptosis Modulation and Signaling 1
Show member pathways
 12.72 BAX BCL2 BCL2L1 TP53
8
Gastric cancer 37
Show member pathways
 12.7 BAX BCL2 BCL2L1 MTOR TP53
9
PI3K-Akt signaling pathway 37
Show member pathways
 12.69 BAX BCL2 BCL2L1 MTOR TP53 TSC1
10
Development HGF signaling pathway 22
Show member pathways
 12.65 BAX BCL2 BCL2L1 MTOR TP53
11
Immune response IL-23 signaling pathway 22
Show member pathways
 12.53 BAX BCL2 BCL2L1 TP53
12
Kaposi's sarcoma-associated herpesvirus infection 37
Show member pathways
 12.51 BAX BCL2 MTOR TP53
13
Glioma 37
Show member pathways
 12.47 BAX BCL2 BCL2L1 MTOR TP53 TSC1
14
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.45 MTOR TP53 TSC1 TSC2
15
Prolactin Signaling Pathway 1 37
Show member pathways
 12.43 BAX BCL2 BCL2L1 MTOR
16
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.38 MTOR TP53 TSC1 TSC2
17
CNTF Signaling 64
Show member pathways
 12.34 BCL2 BCL2L1 MTOR
18
Apoptosis Pathway 72
Show member pathways
 12.34 BAX BCL2 BCL2L1 MTOR TP53
19
RANK Signaling in Osteoclasts 64
Show member pathways
 12.33 BCL2 BCL2L1 MTOR
20
HTLV-I infection 37
12.33 BAX BCL2L1 TP53
21
mTOR signalling 66
Show member pathways
 12.32 MTOR TSC1 TSC2
22
Phospholipase D signaling pathway 37
Show member pathways
 12.31 MTOR TSC1 TSC2
23
DNA Damage Response 1
Show member pathways
 12.24 BAX BCL2 BCL2L1 TP53 TSC2
24
Type I Interferon Signaling Pathways 65
Show member pathways
 12.22 MTOR TSC1 TSC2
25
p53 Signaling 64
Show member pathways
 12.22 BAX BCL2 BCL2L1 TP53
26
Translational Control 4
12.19 MTOR TSC1 TSC2
27
Transcriptional misregulation in cancer 37
12.18 BAX BCL2L1 TP53
28
Apoptosis and Autophagy 4
12.17 BAX BCL2 BCL2L1
29
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.14 MTOR TSC1 TSC2
30
Cellular senescence (KEGG) 37
12.13 MTOR TP53 TSC1 TSC2
31
Colorectal Cancer Metastasis 64
12.12 BAX BCL2L1 TP53
32
Autophagy Pathway 65
Show member pathways
 12.09 BCL2 MTOR TSC1 TSC2
33
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 12.05 MTOR TSC1 TSC2
34
Direct p53 effectors 1
12.03 BAX BCL2 TP53 TSC2
35
Activation of BH3-only proteins 66
Show member pathways
 11.99 BAX BCL2 BCL2L1 TP53
36
Longevity regulating pathway 37
Show member pathways
 11.98 BAX MTOR TP53 TSC1 TSC2
37
Sphingolipid signaling pathway 37
11.96 BAX BCL2 TP53
38
Thyroid hormone signaling pathway 37
11.95 MTOR TP53 TSC2
39
DNA Damage Response (only ATM dependent) 1
11.94 BAX BCL2 TP53
40
Interleukin-4 and 13 signaling 66
11.94 BCL2 BCL2L1 TP53
41
Amyotrophic lateral sclerosis (ALS) 1 37
Show member pathways
 11.93 BAX BCL2 BCL2L1 TP53
42
Senescence and Autophagy in Cancer 1
11.9 BCL2 MTOR TP53
43
Glioblastoma Multiforme 64
11.9 MTOR TP53 TSC1 TSC2
44
Autophagy - animal 37
11.87 BCL2 BCL2L1 MTOR TSC1 TSC2
45
Small cell lung cancer 37
11.82 BAX BCL2 BCL2L1 TP53
46
Integrated Breast Cancer Pathway 1
11.82 BAX BCL2 MTOR TP53 TSC1 TSC2
47
Nanomaterial induced apoptosis 1
Show member pathways
 11.79 BAX BCL2 BCL2L1
48
TP53 Regulates Metabolic Genes 66
11.77 MTOR TP53 TSC1 TSC2
49
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.67 BCL2 BCL2L1 MTOR
50
Platinum drug resistance 37
11.66 BAX BCL2 BCL2L1 TP53
Sources

GO Terms for Focal Cortical Dysplasia, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.8 BAX BCL2 BCL2L1 MTOR TP53
2 protein-containing complex GO:0032991 9.67 BCL2 MTOR TP53 TSC1
3 mitochondrial membrane GO:0031966 9.5 BAX BCL2 BCL2L1
4 pore complex GO:0046930 9.26 BAX BCL2
5 Bcl-2 family protein complex GO:0097136 9.16 BAX BCL2L1
6 TSC1-TSC2 complex GO:0033596 8.96 TSC1 TSC2
7 mitochondrial outer membrane GO:0005741 8.92 BAX BCL2 BCL2L1 MTOR

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.92 BAX BCL2 BCL2L1 TP53
2 negative regulation of cell proliferation GO:0008285 9.92 BAX BCL2 TP53 TSC1 TSC2
3 negative regulation of neuron apoptotic process GO:0043524 9.84 BAX BCL2 BCL2L1
4 cellular response to hypoxia GO:0071456 9.82 BCL2 MTOR TP53
5 kidney development GO:0001822 9.82 BAX BCL2 TSC1
6 male gonad development GO:0008584 9.81 BAX BCL2 BCL2L1
7 cell proliferation GO:0008283 9.8 BAX BCL2 BCL2L1 GFI1B TP53
8 post-embryonic development GO:0009791 9.78 BAX BCL2 MTOR
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.76 BAX BCL2 BCL2L1
10 ovarian follicle development GO:0001541 9.75 BAX BCL2 BCL2L1
11 germ cell development GO:0007281 9.74 BAX BCL2L1 MTOR
12 neuron apoptotic process GO:0051402 9.73 BAX BCL2 BCL2L1
13 cell cycle arrest GO:0007050 9.73 MTOR TP53 TSC1 TSC2
14 fertilization GO:0009566 9.72 BAX BCL2L1
15 cellular response to organic substance GO:0071310 9.72 BAX BCL2
16 cellular response to glucose starvation GO:0042149 9.72 BCL2 TP53
17 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.72 BCL2 BCL2L1
18 response to radiation GO:0009314 9.71 BCL2 BCL2L1
19 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.71 BAX TP53
20 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.71 BAX BCL2
21 negative regulation of fibroblast proliferation GO:0048147 9.71 BAX TP53
22 negative regulation of TOR signaling GO:0032007 9.7 TSC1 TSC2
23 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.7 BCL2 TP53
24 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.7 BAX BCL2
25 negative regulation of insulin receptor signaling pathway GO:0046627 9.7 TSC1 TSC2
26 intrinsic apoptotic signaling pathway GO:0097193 9.69 BAX TP53
27 positive regulation of macroautophagy GO:0016239 9.69 TSC1 TSC2
28 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.69 BAX TP53
29 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.69 BAX BCL2 BCL2L1
30 homeostasis of number of cells within a tissue GO:0048873 9.68 BAX BCL2
31 cellular response to gamma radiation GO:0071480 9.68 BCL2L1 TP53
32 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.68 BCL2 BCL2L1
33 negative regulation of apoptotic signaling pathway GO:2001234 9.68 BAX BCL2
34 B cell homeostasis GO:0001782 9.67 BAX BCL2
35 mitochondrion morphogenesis GO:0070584 9.67 BAX BCL2L1
36 positive regulation of protein oligomerization GO:0032461 9.67 BAX TP53
37 response to gamma radiation GO:0010332 9.67 BAX BCL2 TP53
38 regulation of cell cycle GO:0051726 9.67 BAX BCL2 TSC1 TSC2
39 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.66 BAX BCL2
40 negative regulation of macroautophagy GO:0016242 9.65 MTOR TSC1
41 regulation of cell-matrix adhesion GO:0001952 9.65 BCL2 TSC1
42 cell aging GO:0007569 9.65 BCL2 MTOR TP53
43 anoikis GO:0043276 9.63 MTOR TSC2
44 negative regulation of cell size GO:0045792 9.63 MTOR TSC1
45 regulation of mitochondrial membrane potential GO:0051881 9.63 BAX BCL2 BCL2L1
46 regulation of protein heterodimerization activity GO:0043497 9.62 BAX BCL2
47 regulation of protein homodimerization activity GO:0043496 9.61 BAX BCL2
48 leukocyte homeostasis GO:0001776 9.6 BAX BCL2
49 positive regulation of neuron maturation GO:0014042 9.59 BCL2 MTOR
50 regulation of nitrogen utilization GO:0006808 9.55 BAX BCL2

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

# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 9.58 MTOR TSC1 TSC2
2 protein heterodimerization activity GO:0046982 9.56 BAX BCL2 BCL2L1 TP53
3 identical protein binding GO:0042802 9.55 BAX BCL2 BCL2L1 MTOR TP53
4 Hsp90 protein binding GO:0051879 9.46 TSC1 TSC2
5 Hsp70 protein binding GO:0030544 9.43 BAX TSC1
6 channel activity GO:0015267 9.37 BAX BCL2
7 protein phosphatase 2A binding GO:0051721 9.32 BCL2 TP53
8 chaperone binding GO:0051087 9.13 BAX TP53 TSC1
9 BH3 domain binding GO:0051434 8.8 BAX BCL2 BCL2L1
Sources

Sources for Focal Cortical Dysplasia, Type Ii

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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