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FCORD2
MCID: FCL081
MIFTS: 60

Focal Cortical Dysplasia, Type Ii (FCORD2)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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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

About this section
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)

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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 87)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 30.4 MTOR TSC1 TSC2
2 tuberous sclerosis 1 30.1 MTOR TSC1 TSC2
3 focal epilepsy 30.1 MTOR TSC1 TSC2
4 ganglioglioma 29.4 TP53 TSC2
5 isolated focal cortical dysplasia type ib 12.4
6 isolated focal cortical dysplasia type ic 12.4
7 isolated focal cortical dysplasia type ia 12.4
8 isolated focal cortical dysplasia type i 12.4
9 corneal dystrophy, fuchs endothelial, 3 11.4
10 alcohol abuse 10.5
11 hepatic angiomyolipoma 10.1 MTOR TSC2
12 lissencephaly with cerebellar hypoplasia 10.1 TSC1 TSC2
13 epilepsy 10.1
14 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1 TSC1 TSC2
15 kidney benign neoplasm 10.1 MTOR TSC2
16 corneal dystrophy, fleck 10.1 TSC1 TSC2
17 corneal dystrophy 10.1
18 sturge-weber syndrome 10.1
19 weber syndrome 10.1
20 alcohol dependence 10.1
21 alcoholic liver cirrhosis 10.1
22 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.1
23 kidney angiomyolipoma 10.0 MTOR TSC1 TSC2
24 angiomyolipoma 10.0 MTOR TSC1 TSC2
25 subependymal glioma 10.0 MTOR TSC1 TSC2
26 benign ependymoma 10.0 MTOR TSC1 TSC2
27 subependymal giant cell astrocytoma 10.0 MTOR TSC1 TSC2
28 tuberous sclerosis 2 10.0 MTOR TSC1 TSC2
29 lymphangioleiomyomatosis 10.0 MTOR TSC1 TSC2
30 polycystic kidney disease 1 with or without polycystic liver disease 10.0 MTOR TSC1 TSC2
31 autosomal dominant polycystic kidney disease 10.0 MTOR TSC1 TSC2
32 kashin-beck disease 10.0 BAX BCL2
33 carbuncle 10.0 BAX BCL2L1
34 bartholin's gland disease 10.0 MTOR TP53
35 nervous system benign neoplasm 10.0 TP53 TSC2
36 cortical dysplasia, complex, with other brain malformations 7 10.0
37 cartilage-hair hypoplasia 10.0 BAX BCL2
38 progressive multifocal leukoencephalopathy 9.9 BAX BCL2
39 epileptic encephalopathy, childhood-onset 9.9
40 encephalopathy 9.9
41 hemimegalencephaly 9.9
42 diabetes mellitus, noninsulin-dependent 9.9
43 rheumatoid arthritis 9.9
44 fructose intolerance, hereditary 9.9
45 galactosemia 9.9
46 deficiency anemia 9.9
47 diabetes mellitus 9.9
48 liver disease 9.9
49 heart disease 9.9
50 iron deficiency anemia 9.9

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 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 cognitive impairment 32 HP:0100543
3 astrocytosis 32 HP:0002446
4 hemiparesis 32 HP:0001269
5 cortical dysplasia 32 HP:0002539
6 focal white matter lesions 32 HP:0007042
7 focal impaired awareness seizure 32 HP:0002384
8 focal cortical dysplasia type ii 32 HP:0032051

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 BCL2L1 MTOR
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 BAX BCL2 BCL2L1 MTOR TP53 TSC1
3 endocrine/exocrine gland MP:0005379 10.04 BAX BCL2 BCL2L1 MTOR TP53 TSC1
4 homeostasis/metabolism MP:0005376 10.03 BAX BCL2 BCL2L1 GFI1B MTOR TP53
5 growth/size/body region MP:0005378 10.02 BAX BCL2 BCL2L1 MTOR TP53 TSC1
6 cardiovascular system MP:0005385 10.01 BCL2 GFI1B MTOR TP53 TSC1 TSC2
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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Search Clinical Trials , 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

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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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Publications for Focal Cortical Dysplasia, Type Ii

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Articles related to Focal Cortical Dysplasia, Type Ii:

# Title Authors Year
1
Single stage epilepsy surgery in children and adolescents with focal cortical dysplasia type II - Prognostic value of the intraoperative electrocorticogram. ( 30472578 )
2018
2
Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II. ( 25957585 )
2015
3
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. ( 25799227 )
2015
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
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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 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
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

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

6 (show top 50) (show all 406)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh37 Chromosome 9, 135781205: 135781205
2 TSC1 NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg) single nucleotide variant Benign rs118203576 GRCh38 Chromosome 9, 132905818: 132905818
3 TSC1 NM_000368.4(TSC1): c.2194C> T (p.His732Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203657 GRCh37 Chromosome 9, 135779052: 135779052
4 TSC1 NM_000368.4(TSC1): c.2194C> T (p.His732Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs118203657 GRCh38 Chromosome 9, 132903665: 132903665
5 TSC1 NM_000368.4(TSC1): c.1001C> T (p.Ser334Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs118203481 GRCh37 Chromosome 9, 135786868: 135786868
6 TSC1 NM_000368.4(TSC1): c.1001C> T (p.Ser334Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs118203481 GRCh38 Chromosome 9, 132911481: 132911481
7 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh37 Chromosome 9, 135786451: 135786451
8 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh38 Chromosome 9, 132911064: 132911064
9 TSC1 NM_000368.4(TSC1): c.1460C> G (p.Ser487Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203532 GRCh37 Chromosome 9, 135781505: 135781505
10 TSC1 NM_000368.4(TSC1): c.1460C> G (p.Ser487Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs118203532 GRCh38 Chromosome 9, 132906118: 132906118
11 TSC1 NM_000368.4(TSC1): c.2075G> A (p.Arg692Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199755731 GRCh37 Chromosome 9, 135779171: 135779171
12 TSC1 NM_000368.4(TSC1): c.2075G> A (p.Arg692Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199755731 GRCh38 Chromosome 9, 132903784: 132903784
13 TSC1 NM_000368.4(TSC1): c.2696C> G (p.Thr899Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76801599 GRCh37 Chromosome 9, 135772927: 135772927
14 TSC1 NM_000368.4(TSC1): c.2696C> G (p.Thr899Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76801599 GRCh38 Chromosome 9, 132897540: 132897540
15 TSC1 NM_000368.4(TSC1): c.3103G> A (p.Gly1035Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118203742 GRCh37 Chromosome 9, 135772014: 135772014
16 TSC1 NM_000368.4(TSC1): c.3103G> A (p.Gly1035Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118203742 GRCh38 Chromosome 9, 132896627: 132896627
17 TSC1 NM_000368.4(TSC1): c.3428C> T (p.Pro1143Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201867031 GRCh37 Chromosome 9, 135771689: 135771689
18 TSC1 NM_000368.4(TSC1): c.3428C> T (p.Pro1143Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201867031 GRCh38 Chromosome 9, 132896302: 132896302
19 TSC1 NM_000368.4(TSC1): c.965T> C (p.Met322Thr) single nucleotide variant Benign rs1073123 GRCh37 Chromosome 9, 135786904: 135786904
20 TSC1 NM_000368.4(TSC1): c.965T> C (p.Met322Thr) single nucleotide variant Benign rs1073123 GRCh38 Chromosome 9, 132911517: 132911517
21 TSC1 NM_000368.4(TSC1): c.106+15A> G single nucleotide variant Benign/Likely benign rs80258442 GRCh37 Chromosome 9, 135804139: 135804139
22 TSC1 NM_000368.4(TSC1): c.106+15A> G single nucleotide variant Benign/Likely benign rs80258442 GRCh38 Chromosome 9, 132928752: 132928752
23 TSC1 NM_000368.4(TSC1): c.1208C> T (p.Ser403Leu) single nucleotide variant Benign/Likely benign rs118203504 GRCh37 Chromosome 9, 135786013: 135786013
24 TSC1 NM_000368.4(TSC1): c.1208C> T (p.Ser403Leu) single nucleotide variant Benign/Likely benign rs118203504 GRCh38 Chromosome 9, 132910626: 132910626
25 TSC1 NM_000368.4(TSC1): c.1335A> G (p.Glu445=) single nucleotide variant Benign rs7862221 GRCh37 Chromosome 9, 135782221: 135782221
26 TSC1 NM_000368.4(TSC1): c.1335A> G (p.Glu445=) single nucleotide variant Benign rs7862221 GRCh38 Chromosome 9, 132906834: 132906834
27 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh37 Chromosome 9, 135782214: 135782214
28 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh38 Chromosome 9, 132906827: 132906827
29 TSC1 NM_000368.4(TSC1): c.1438+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118203530 GRCh37 Chromosome 9, 135782112: 135782112
30 TSC1 NM_000368.4(TSC1): c.1438+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118203530 GRCh38 Chromosome 9, 132906725: 132906725
31 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh37 Chromosome 9, 135781440: 135781440
32 TSC1 NM_000368.4(TSC1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs118203542 GRCh38 Chromosome 9, 132906053: 132906053
33 TSC1 NM_000368.4(TSC1): c.1726T> C (p.Leu576=) single nucleotide variant Benign/Likely benign rs118203567 GRCh37 Chromosome 9, 135781239: 135781239
34 TSC1 NM_000368.4(TSC1): c.1726T> C (p.Leu576=) single nucleotide variant Benign/Likely benign rs118203567 GRCh38 Chromosome 9, 132905852: 132905852
35 TSC1 NM_000368.4(TSC1): c.2285A> G (p.Asn762Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118203670 GRCh37 Chromosome 9, 135778098: 135778098
36 TSC1 NM_000368.4(TSC1): c.2285A> G (p.Asn762Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118203670 GRCh38 Chromosome 9, 132902711: 132902711
37 TSC1 NM_000368.4(TSC1): c.2626-4delT deletion Benign rs118203716 GRCh37 Chromosome 9, 135773001: 135773001
38 TSC1 NM_000368.4(TSC1): c.2626-4delT deletion Benign rs118203716 GRCh38 Chromosome 9, 132897614: 132897614
39 TSC1 NM_000368.4(TSC1): c.2646C> T (p.Ala882=) single nucleotide variant Conflicting interpretations of pathogenicity rs118203720 GRCh37 Chromosome 9, 135772977: 135772977
40 TSC1 NM_000368.4(TSC1): c.2646C> T (p.Ala882=) single nucleotide variant Conflicting interpretations of pathogenicity rs118203720 GRCh38 Chromosome 9, 132897590: 132897590
41 TSC1 NM_000368.4(TSC1): c.2829C> T (p.Ala943=) single nucleotide variant Benign rs4962081 GRCh37 Chromosome 9, 135772717: 135772717
42 TSC1 NM_000368.4(TSC1): c.2829C> T (p.Ala943=) single nucleotide variant Benign rs4962081 GRCh38 Chromosome 9, 132897330: 132897330
43 TSC1 NM_000368.4(TSC1): c.2865C> T (p.Thr955=) single nucleotide variant Benign/Likely benign rs45468995 GRCh37 Chromosome 9, 135772681: 135772681
44 TSC1 NM_000368.4(TSC1): c.2865C> T (p.Thr955=) single nucleotide variant Benign/Likely benign rs45468995 GRCh38 Chromosome 9, 132897294: 132897294
45 TSC1 NM_000368.4(TSC1): c.3282G> A (p.Glu1094=) single nucleotide variant Benign/Likely benign rs116747861 GRCh37 Chromosome 9, 135771835: 135771835
46 TSC1 NM_000368.4(TSC1): c.3282G> A (p.Glu1094=) single nucleotide variant Benign/Likely benign rs116747861 GRCh38 Chromosome 9, 132896448: 132896448
47 TSC1 NM_000368.4(TSC1): c.3324C> T (p.Gly1108=) single nucleotide variant Benign rs35593170 GRCh37 Chromosome 9, 135771793: 135771793
48 TSC1 NM_000368.4(TSC1): c.3324C> T (p.Gly1108=) single nucleotide variant Benign rs35593170 GRCh38 Chromosome 9, 132896406: 132896406
49 TSC1 NM_000368.4(TSC1): c.618T> C (p.His206=) single nucleotide variant Benign/Likely benign rs118203415 GRCh37 Chromosome 9, 135797251: 135797251
50 TSC1 NM_000368.4(TSC1): c.618T> C (p.His206=) single nucleotide variant Benign/Likely benign rs118203415 GRCh38 Chromosome 9, 132921864: 132921864
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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 79)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.72 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
 12.9 BAX MTOR TP53 TSC1 TSC2
4
TNFR1 Pathway 64
Show member pathways
 12.87 BAX BCL2 BCL2L1 MTOR TP53 TSC2
5
Human cytomegalovirus infection 37
Show member pathways
 12.86 BAX BCL2 BCL2L1 MTOR TP53 TSC1
6
Pathways in cancer 37
12.78 BAX BCL2 BCL2L1 MTOR TP53
7
Endometrial cancer 37
Show member pathways
 12.75 BAX BCL2 BCL2L1 MTOR TP53 TSC2
8
PI3K-Akt signaling pathway 37
Show member pathways
 12.75 BAX BCL2 BCL2L1 MTOR TP53 TSC1
9
Apoptosis Modulation and Signaling 1
Show member pathways
 12.72 BAX BCL2 BCL2L1 TP53
10
Gastric cancer 37
Show member pathways
 12.72 BAX BCL2 BCL2L1 MTOR TP53
11
Development HGF signaling pathway 22
Show member pathways
 12.66 BAX BCL2 BCL2L1 MTOR TP53
12
4-1BB Pathway 64
Show member pathways
 12.62 BAX BCL2 BCL2L1 TP53
13
Immune response IL-23 signaling pathway 22
Show member pathways
 12.53 BAX BCL2 BCL2L1 TP53
14
Glioma 37
Show member pathways
 12.47 BAX BCL2 BCL2L1 MTOR TP53 TSC1
15
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.46 MTOR TP53 TSC1 TSC2
16
Prolactin Signaling Pathway 1 37
Show member pathways
 12.44 BAX BCL2 BCL2L1 MTOR
17
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.39 MTOR TP53 TSC1 TSC2
18
Apoptosis Pathway 72
Show member pathways
 12.37 BAX BCL2 BCL2L1 MTOR TP53
19
RANK Signaling in Osteoclasts 64
Show member pathways
 12.33 BCL2 BCL2L1 MTOR
20
Human T-cell leukemia virus 1 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
 12.28 BAX BCL2 BCL2L1 TP53 TSC2
24
CNTF Signaling 64
Show member pathways
 12.26 BCL2 BCL2L1 MTOR
25
Type I Interferon Signaling Pathways 65
Show member pathways
 12.23 MTOR TSC1 TSC2
26
p53 Signaling 64
Show member pathways
 12.23 BAX BCL2 BCL2L1 TP53
27
Epstein-Barr virus infection 37
12.22 BAX BCL2 TP53
28
Translational Control 4
12.19 MTOR TSC1 TSC2
29
Transcriptional misregulation in cancer 37
12.18 BAX BCL2L1 TP53
30
Apoptosis and Autophagy 4
12.18 BAX BCL2 BCL2L1
31
Development IGF-1 receptor signaling 22
Show member pathways
 12.18 BAX BCL2L1 MTOR TP53 TSC1 TSC2
32
Cellular senescence (KEGG) 37
12.15 MTOR TP53 TSC1 TSC2
33
AMPK Enzyme Complex Pathway 64
Show member pathways
 12.14 MTOR TSC1 TSC2
34
Colorectal Cancer Metastasis 64
12.12 BAX BCL2L1 TP53
35
Autophagy Pathway 65
Show member pathways
 12.1 BCL2 MTOR TSC1 TSC2
36
Direct p53 effectors 1
12.04 BAX BCL2 TP53 TSC2
37
Longevity regulating pathway 37
Show member pathways
 12.03 BAX MTOR TP53 TSC1 TSC2
38
Activation of BH3-only proteins 66
Show member pathways
 12.01 BAX BCL2 BCL2L1 TP53
39
UVA-Induced MAPK Signaling 64
Show member pathways
 11.99 BCL2L1 MTOR TP53
40
Sphingolipid signaling pathway 37
11.96 BAX BCL2 TP53
41
Thyroid hormone signaling pathway 37
11.95 MTOR TP53 TSC2
42
DNA Damage Response (only ATM dependent) 1
11.94 BAX BCL2 TP53
43
Interleukin-4 and 13 signaling 66
11.94 BCL2 BCL2L1 TP53
44
Amyotrophic lateral sclerosis (ALS) 1 37
Show member pathways
 11.94 BAX BCL2 BCL2L1 TP53
45
Glioblastoma Multiforme 64
11.92 MTOR TP53 TSC1 TSC2
46
Autophagy - animal 37
11.91 BCL2 BCL2L1 MTOR TSC1 TSC2
47
Senescence and Autophagy in Cancer 1
11.9 BCL2 MTOR TP53
48
Small cell lung cancer 37
11.84 BAX BCL2 BCL2L1 TP53
49
Integrated Breast Cancer Pathway 1
11.82 BAX BCL2 MTOR TP53 TSC1 TSC2
50
Nanomaterial induced apoptosis 1
Show member pathways
 11.8 BAX BCL2 BCL2L1
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 mitochondrion GO:0005739 9.83 BAX BCL2 BCL2L1 MTOR TP53
2 endoplasmic reticulum GO:0005783 9.8 BAX BCL2 BCL2L1 MTOR TP53
3 protein-containing complex GO:0032991 9.67 BCL2 MTOR TP53 TSC1
4 mitochondrial membrane GO:0031966 9.5 BAX BCL2 BCL2L1
5 pore complex GO:0046930 9.26 BAX BCL2
6 mitochondrial outer membrane GO:0005741 9.26 BAX BCL2 BCL2L1 MTOR
7 Bcl-2 family protein complex GO:0097136 9.16 BAX BCL2L1
8 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.89 BAX BCL2 TP53 TSC1 TSC2
2 regulation of apoptotic process GO:0042981 9.88 BAX BCL2 BCL2L1 TP53
3 negative regulation of neuron apoptotic process GO:0043524 9.83 BAX BCL2 BCL2L1
4 cellular response to hypoxia GO:0071456 9.81 BCL2 MTOR TP53
5 kidney development GO:0001822 9.81 BAX BCL2 TSC1
6 male gonad development GO:0008584 9.8 BAX BCL2 BCL2L1
7 post-embryonic development GO:0009791 9.77 BAX BCL2 MTOR
8 regulation of cell cycle GO:0051726 9.76 BAX BCL2 TSC1 TSC2
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.74 BAX BCL2 BCL2L1
10 ovarian follicle development GO:0001541 9.73 BAX BCL2 BCL2L1
11 cellular response to glucose starvation GO:0042149 9.72 BCL2 TP53
12 cellular response to organic substance GO:0071310 9.72 BAX BCL2
13 fertilization GO:0009566 9.72 BAX BCL2L1
14 germ cell development GO:0007281 9.72 BAX BCL2L1 MTOR
15 cell proliferation GO:0008283 9.72 BAX BCL2 BCL2L1 GFI1B TP53
16 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 BCL2 BCL2L1
17 negative regulation of TOR signaling GO:0032007 9.71 TSC1 TSC2
18 response to radiation GO:0009314 9.71 BCL2 BCL2L1
19 negative regulation of insulin receptor signaling pathway GO:0046627 9.71 TSC1 TSC2
20 neuron apoptotic process GO:0051402 9.71 BAX BCL2 BCL2L1
21 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.7 BAX BCL2
22 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.7 BAX BCL2
23 negative regulation of fibroblast proliferation GO:0048147 9.7 BAX TP53
24 positive regulation of macroautophagy GO:0016239 9.7 TSC1 TSC2
25 homeostasis of number of cells within a tissue GO:0048873 9.69 BAX BCL2
26 intrinsic apoptotic signaling pathway GO:0097193 9.69 BAX TP53
27 regulation of protein kinase activity GO:0045859 9.69 MTOR TSC1
28 cellular response to gamma radiation GO:0071480 9.68 BCL2L1 TP53
29 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.68 BAX TP53
30 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.68 BAX TP53
31 negative regulation of apoptotic signaling pathway GO:2001234 9.68 BAX BCL2
32 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:1900740 9.67 BCL2 TP53
33 negative regulation of intrinsic apoptotic signaling pathway GO:2001243 9.67 BCL2 BCL2L1
34 B cell homeostasis GO:0001782 9.67 BAX BCL2
35 mitochondrion morphogenesis GO:0070584 9.66 BAX BCL2L1
36 positive regulation of protein oligomerization GO:0032461 9.66 BAX TP53
37 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.65 BAX BCL2
38 negative regulation of macroautophagy GO:0016242 9.65 MTOR TSC1
39 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.65 BAX BCL2 BCL2L1
40 regulation of cell-matrix adhesion GO:0001952 9.64 BCL2 TSC1
41 anoikis GO:0043276 9.63 MTOR TSC2
42 negative regulation of cell size GO:0045792 9.62 MTOR TSC1
43 regulation of protein heterodimerization activity GO:0043497 9.61 BAX BCL2
44 regulation of protein homodimerization activity GO:0043496 9.61 BAX BCL2
45 response to gamma radiation GO:0010332 9.61 BAX BCL2 TP53
46 leukocyte homeostasis GO:0001776 9.59 BAX BCL2
47 positive regulation of neuron maturation GO:0014042 9.58 BCL2 MTOR
48 cell aging GO:0007569 9.58 BCL2 MTOR TP53
49 regulation of mitochondrial membrane potential GO:0051881 9.54 BAX BCL2 BCL2L1
50 positive regulation of developmental pigmentation GO:0048087 9.52 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 protein heterodimerization activity GO:0046982 9.56 BAX BCL2 BCL2L1 TP53
2 identical protein binding GO:0042802 9.55 BAX BCL2 BCL2L1 MTOR TP53
3 Hsp90 protein binding GO:0051879 9.43 TSC1 TSC2
4 Hsp70 protein binding GO:0030544 9.4 BAX TSC1
5 channel activity GO:0015267 9.37 BAX BCL2
6 protein phosphatase 2A binding GO:0051721 9.32 BCL2 TP53
7 chaperone binding GO:0051087 9.13 BAX TP53 TSC1
8 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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