FCORD2
MCID: FCL081
MIFTS: 56

Focal Cortical Dysplasia, Type Ii (FCORD2)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Focal Cortical Dysplasia, Type Ii

MalaCards integrated aliases for Focal Cortical Dysplasia, Type Ii:

Name: Focal Cortical Dysplasia, Type Ii 57 73
Focal Cortical Dysplasia of Taylor 57 19 73 71
Isolated Focal Cortical Dysplasia Type Ii 58 28 5
Cortical Dysplasia of Taylor 57 19 73
Fcdt 57 19 73
Cdt 57 19 73
Cortical Dysplasia of Taylor, Dysplasia Only 73 71
Focal Cortical Dysplasia Type 2 19 73
Fcord2 57 73
Fcd2 57 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 12
Cortical Dysplasia of Taylor with Balloon Cells 73
Focal Cortical Dysplasia of Taylor, Type Iib 71
Focal Cortical Dysplasia, Type Ii, Somatic 57
Isolated Focal Cortical Dysplasia Type Iib 58
Isolated Focal Cortical Dysplasia Type Iia 58
Isolated Focal Cortical Dysplasia Type 2 58
Focal Cortical Dysplasia, Type Iia 73
Focal Cortical Dysplasia, Type Iib 73
Dysplasia, Cortical, Focal Type Ii 38
Isolated Focal Cortical Dysplasia 58
Focal Cortical Dysplasia Type Ii 19
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:


Inheritance:

Somatic mutation 57

Age Of Onset:

Isolated Focal Cortical Dysplasia: All ages 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
adult onset has been reported
onset usually in infancy or early childhood
two subtypes based on pathologic findings of 'balloon cells' - type iia, absence of balloon cells and type iib, presence of balloon cells
type iia tends to have more severe phenotype with earlier onset
surgical intervention is not always curative
mutations occur somatically in affected brain tissue


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607341
MeSH 43 D001927
ICD10 via Orphanet 32 Q04.8
UMLS via Orphanet 72 C1846385 C2938983
UMLS 71 C1846385 C1846388 C1846389

Summaries for Focal Cortical Dysplasia, Type Ii

OMIM®: 57 Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016). (607341) (Updated 24-Oct-2022)

MalaCards based summary: Focal Cortical Dysplasia, Type Ii, also known as focal cortical dysplasia of taylor, is related to epilepsy and tuberous sclerosis 1. An important gene associated with Focal Cortical Dysplasia, Type Ii is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Prolactin Signaling and Akt Signaling. The drugs Everolimus and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are brain imaging abnormality and psychomotor deterioration

UniProtKB/Swiss-Prot 73 Focal cortical dysplasia of taylor balloon cell type: Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.

Focal cortical dysplasia 2: A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells.

Orphanet: 58 Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.

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 199)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.9 TSC2 TSC1 MTOR
2 tuberous sclerosis 1 29.8 TSC2 TSC1
3 ganglioglioma 29.7 TSC2 TSC1
4 tuberous sclerosis 29.4 TSC2 TSC1 MTOR
5 west syndrome 29.3 TSC2 TSC1 MTOR
6 type 2 diabetes mellitus 28.6 TSC2 TSC1 MTOR
7 isolated focal cortical dysplasia type ib 11.4
8 isolated focal cortical dysplasia type ic 11.4
9 isolated focal cortical dysplasia type ia 11.4
10 corneal dystrophy, fuchs endothelial, 3 11.0
11 alcohol use disorder 10.7
12 corneal dystrophy, thiel-behnke type 10.6
13 alcohol dependence 10.5
14 visual epilepsy 10.3
15 focal epilepsy 10.3
16 temporal lobe epilepsy 10.3
17 clostridium difficile colitis 10.2
18 tuberous sclerosis 2 10.2
19 isolated focal cortical dysplasia type i 10.2
20 liver cirrhosis 10.2
21 retinoblastoma 10.1
22 external auditory canal, bilateral atresia of, with congenital vertical talus 10.1
23 sturge-weber syndrome 10.1
24 febrile infection-related epilepsy syndrome 10.1
25 weber syndrome 10.1
26 rasmussen subacute encephalitis 10.1
27 pulmonary embolism 10.1
28 fuchs' endothelial dystrophy 10.1
29 corneal dystrophy 10.1
30 anemia, sideroblastic, and spinocerebellar ataxia 10.1
31 congenital disorder of glycosylation, type in 10.1
32 pinta disease 10.1
33 diarrhea 10.1
34 campylobacteriosis 10.1
35 alcoholic liver cirrhosis 10.1
36 hepatitis 10.1
37 ehlers-danlos syndrome, arthrochalasia type, 1 10.1
38 fanconi anemia, complementation group a 10.1
39 fanconi anemia, complementation group i 10.1
40 smith-kingsmore syndrome 10.1
41 cebalid syndrome 10.1
42 papilloma 10.1
43 depdc5-related epilepsy 10.1
44 encephalopathy 10.1
45 neuronal migration disorders 10.1
46 status epilepticus 10.1
47 extratemporal epilepsy 10.1
48 reye syndrome 10.1
49 argininosuccinic aciduria 10.0
50 withdrawal disorder 10.0

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:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain imaging abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0410263
2 psychomotor deterioration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002361
3 abnormal neuron morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012757
4 behavioral abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000708
5 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
6 abnormal cortical gyration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002536
7 hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001269
8 focal impaired awareness seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002384
9 hyperintensity of cerebral white matter on mri 58 30 Frequent (33%) Frequent (79-30%)
HP:0030890
10 thick cerebral cortex 58 30 Frequent (33%) Frequent (79-30%)
HP:0006891
11 nocturnal seizures 58 30 Frequent (33%) Frequent (79-30%)
HP:0031951
12 intellectual disability, severe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010864
13 infantile spasms 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012469
14 generalized-onset seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002197
15 neuronal/glioneuronal neoplasm of the central nervous system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025170
16 bilateral tonic-clonic seizure with focal onset 30 Occasional (7.5%) HP:0007334
17 cognitive impairment 58 30 Frequent (79-30%)
HP:0100543
18 intellectual disability 30 HP:0001249
19 seizures 58 Very frequent (99-80%)
20 abnormality of the nervous system 58 Very frequent (99-80%)
21 focal-onset seizure 58 Frequent (79-30%)
22 cortical dysplasia 30 HP:0002539
23 astrocytosis 30 HP:0002446
24 epileptic spasms 58 Occasional (29-5%)
25 generalized tonic-clonic seizures with focal onset 58 Occasional (29-5%)
26 focal white matter lesions 30 HP:0007042
27 hemimegalencephaly 30 HP:0007206
28 focal cortical dysplasia type ii 30 HP:0032051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.36 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.36 TSC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.36 TSC1 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.36 TSC2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.36 TSC2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.36 TSC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.36 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.36 TSC2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.36 TSC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.36 TSC2

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 Anticonvulsants Phase 2
3 Immunosuppressive Agents 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) Completed NCT03198949 Phase 2 Afinitor (everolimus)
2 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 Isolated Focal Cortical Dysplasia Type Ii 28 MTOR TSC1 TSC2

Anatomical Context for Focal Cortical Dysplasia, Type Ii

Organs/tissues related to Focal Cortical Dysplasia, Type Ii:

MalaCards : Brain, Cortex, Temporal Lobe, Endothelial, Thyroid, Breast, Bone

Publications for Focal Cortical Dysplasia, Type Ii

Articles related to Focal Cortical Dysplasia, Type Ii:

(show top 50) (show all 373)
# Title Authors PMID Year
1
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 62 57 5
28215400 2017
2
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 62 57 5
26018084 2015
3
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 62 57 5
25799227 2015
4
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 57 5
27830187 2016
5
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 62 5
25878179 2015
6
Adult-onset epilepsy in focal cortical dysplasia of Taylor type. 62 57
15911808 2005
7
Distinct clinicopathologic subtypes of cortical dysplasia of Taylor. 62 57
15642904 2005
8
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 5
27159400 2016
9
Terminology and classification of the cortical dysplasias. 57
15037671 2004
10
Glioneuronal malformative lesions and dysembryoplastic neuroepithelial tumors in patients with chronic pharmacoresistant epilepsies. 57
7876892 1995
11
Focal dysplasia of the cerebral cortex in epilepsy. 57
5096551 1971
12
Biological mechanisms influencing the outcome of seizures in response to fever. 57
5282881 1971
13
Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line. 62
35961105 2022
14
Is intracranial electroencephalography mandatory for MRI-negative neocortical epilepsy surgery? 62
36242573 2022
15
Focal cortical dysplasia pathology: diagnostic difficulty, classification, and utility for pathogenesis. 62
36183176 2022
16
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II. 62
36065086 2022
17
Vascular endothelial growth factor-C modulates cortical NMDA receptor activity in cortical lesions of young patients and rat model with focal cortical dysplasia. 62
35259773 2022
18
Cortical abnormalities of synaptic vesicle protein 2A in focal cortical dysplasia type II identified in vivo with 18F-SynVesT-1 positron emission tomography imaging. 62
34978594 2022
19
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. 62
35953082 2022
20
18 F-SynVesT-1 PET in Focal Cortical Dysplasia Type II With Thickening Cortex. 62
35384870 2022
21
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. 62
35441233 2022
22
Comparison of machine learning methods for the detection of focal cortical dysplasia lesions: decision tree, support vector machine and artificial neural network. 62
35981138 2022
23
Black Line Sign in Focal Cortical Dysplasia IIB: A 7T MRI and Electroclinicopathologic Study. 62
35940890 2022
24
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. 62
35706131 2022
25
Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy. 62
36187145 2022
26
Benefits and Risks of Epilepsy Surgery in Patients With Focal Cortical Dysplasia Type 2 in the Central Region. 62
35418453 2022
27
MR Imaging Detection of CNS Lesions in Tuberous Sclerosis Complex: The Usefulness of T1WI with Chemical Shift Selective Images. 62
35835590 2022
28
Focal thalamocortical circuit abnormalities in sleep related epilepsy caused by focal cortical dysplasia type II. 62
35640469 2022
29
Multifocal multilobar focal cortical dysplasia type IIa in Febrile Infection Related Epilepsy Syndrome (FIRES). 62
35483186 2022
30
A Case of a Solitary Cortical Tuber with No Other Manifestations of Tuberous Sclerosis Complex Mimicking Focal Cortical Dysplasia Type II with Calcification. 62
35790363 2022
31
A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome. 62
35241305 2022
32
Unexpected Effect of IL-1β on the Function of GABAA Receptors in Pediatric Focal Cortical Dysplasia. 62
35741692 2022
33
Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model. 62
34957478 2022
34
Multimodal prognostic features of seizure freedom in epilepsy surgery. 62
35246493 2022
35
Screening and identification of novel candidate biomarkers of focal cortical dysplasia type II via bioinformatics analysis. 62
35112146 2022
36
Focal cortical dysplasia: Updates. 62
35562149 2022
37
Black Line Sign in Focal Cortical Dysplasia IIB: A 7T MRI and Electro-clinico-pathologic Study. 62
35577576 2022
38
Reorganization of Parvalbumin Immunopositive Perisomatic Innervation of Principal Cells in Focal Cortical Dysplasia Type IIB in Human Epileptic Patients. 62
35563137 2022
39
Localizing and Lateralizing Value of Seizure Onset Pattern on Surface EEG in FCD Type II. 62
35231790 2022
40
MRI of focal cortical dysplasia. 62
34839379 2022
41
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. 62
35097204 2022
42
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II. 62
35040598 2022
43
Validating EEG, MEG and Combined MEG and EEG Beamforming for an Estimation of the Epileptogenic Zone in Focal Cortical Dysplasia. 62
35053857 2022
44
Not Your Everyday FCD: Imaging Findings of Focal Cortical Dysplasia Type 1. 62
35600762 2022
45
An Investigation into the Correlation of Scalp Electrophysiological Findings with Preoperative Clinical and Imaging Findings in Patients with Focal Cortical Dysplasia. 62
35713255 2022
46
Brain network analysis of interictal epileptiform discharges from ECoG to identify epileptogenic zone in pediatric patients with epilepsy and focal cortical dysplasia type II: A retrospective study. 62
35989902 2022
47
Predictors of postoperative long-term seizure outcome in pediatric patients with focal cortical dysplasia type II at a German tertiary epilepsy center. 62
34653986 2022
48
Individual Strategies of Response Organization in Multitasking Are Stable Even at Risk of High Between-Task Interference. 62
35465496 2022
49
Brain Somatic Variant in Ras-Like Small GTPase RALA Causes Focal Cortical Dysplasia Type II. 62
35846790 2022
50
Focal cortical dysplasia (FCD) type IIb: A pathologists' delight. 62
35075009 2022

Variations for Focal Cortical Dysplasia, Type Ii

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

5 (show top 50) (show all 337)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTOR NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln) SNV Pathogenic
Pathogenic
417724 rs1085307113 GRCh37: 1:11174395-11174395
GRCh38: 1:11114338-11114338
2 MTOR NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly) SNV Pathogenic
417727 rs1085307114 GRCh37: 1:11217312-11217312
GRCh38: 1:11157255-11157255
3 TSC2 NM_000548.5(TSC2):c.1458del (p.Ser487fs) DEL Pathogenic
626195 rs1567437155 GRCh37: 16:2114287-2114287
GRCh38: 16:2064286-2064286
4 TSC1 NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) SNV Pathogenic
417732 rs1060505021 GRCh37: 9:135797259-135797259
GRCh38: 9:132921872-132921872
5 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV Pathogenic
49471 rs45517412 GRCh37: 16:2138294-2138294
GRCh38: 16:2088293-2088293
6 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) SNV Pathogenic
12396 rs45517179 GRCh37: 16:2114342-2114342
GRCh38: 16:2064341-2064341
7 TSC2 NM_000548.5(TSC2):c.5161-1G>A SNV Pathogenic
49943 rs45517404 GRCh37: 16:2138227-2138227
GRCh38: 16:2088226-2088226
8 TSC1 NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) SNV Pathogenic
48941 rs118203680 GRCh37: 9:135778042-135778042
GRCh38: 9:132902655-132902655
9 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) SNV Pathogenic
49083 rs118203427 GRCh37: 9:135796805-135796805
GRCh38: 9:132921418-132921418
10 TSC2 NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) SNV Pathogenic
50131 rs45517222 GRCh37: 16:2122880-2122880
GRCh38: 16:2072879-2072879
11 TSC2 NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV Pathogenic
12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
12 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic
48885 rs118203631 GRCh37: 9:135779172-135779172
GRCh38: 9:132903785-132903785
13 TSC2 NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) SNV Pathogenic
49930 rs45517395 GRCh37: 16:2138118-2138118
GRCh38: 16:2088117-2088117
14 TSC2 NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) SNV Pathogenic
49643 rs45469298 GRCh37: 16:2120571-2120571
GRCh38: 16:2070570-2070570
15 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV Pathogenic
12397 rs28934872 GRCh37: 16:2120572-2120572
GRCh38: 16:2070571-2070571
16 TSC2 NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) SNV Pathogenic
238056 rs745895675 GRCh37: 16:2135300-2135300
GRCh38: 16:2085299-2085299
17 MTOR NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) SNV Pathogenic
584432 rs587777893 GRCh37: 1:11188164-11188164
GRCh38: 1:11128107-11128107
18 MTOR NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) SNV Pathogenic
217823 rs863225264 GRCh37: 1:11190804-11190804
GRCh38: 1:11130747-11130747
19 TSC1 NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) SNV Pathogenic
417731 rs749030456 GRCh37: 9:135804196-135804196
GRCh38: 9:132928809-132928809
20 MTOR NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) SNV Pathogenic
Pathogenic
156703 rs587777894 GRCh37: 1:11184573-11184573
GRCh38: 1:11124516-11124516
21 MTOR NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) SNV Pathogenic
376130 rs1057519779 GRCh37: 1:11217299-11217299
GRCh38: 1:11157242-11157242
22 TSC1 NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) SNV Pathogenic
48796 rs118203542 GRCh37: 9:135781440-135781440
GRCh38: 9:132906053-132906053
23 TSC2 NM_000548.5(TSC2):c.225+1G>A SNV Likely Pathogenic
626196 rs1567387207 GRCh37: 16:2100488-2100488
GRCh38: 16:2050487-2050487
24 MTOR NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) SNV Likely Pathogenic
1685378 GRCh37: 1:11227530-11227530
GRCh38: 1:11167473-11167473
25 TSC2 NM_000548.5(TSC2):c.2545+5G>C SNV Likely Pathogenic
430442 rs1131691965 GRCh37: 16:2124395-2124395
GRCh38: 16:2074394-2074394
26 TSC1 NM_000368.5(TSC1):c.1033del (p.Thr345fs) DEL Likely Pathogenic
626194 rs1564488264 GRCh37: 9:135786497-135786497
GRCh38: 9:132911110-132911110
27 TSC2 NM_000548.5(TSC2):c.2318dup (p.Leu773fs) DUP Likely Pathogenic
828015 rs1596350476 GRCh37: 16:2122945-2122946
GRCh38: 16:2072944-2072945
28 TSC1 NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) SNV Conflicting Interpretations Of Pathogenicity
5103 rs118203657 GRCh37: 9:135779052-135779052
GRCh38: 9:132903665-132903665
29 TSC1 NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) SNV Uncertain Significance
Likely Benign
41694 rs199755731 GRCh37: 9:135779171-135779171
GRCh38: 9:132903784-132903784
30 TSC1 NM_000368.4(TSC1):c.-227G>A SNV Uncertain Significance
365525 rs886063629 GRCh37: 9:135820013-135820013
GRCh38: 9:132944626-132944626
31 TSC1 NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) SNV Uncertain Significance
648921 rs1588308288 GRCh37: 9:135781028-135781028
GRCh38: 9:132905641-132905641
32 MTOR NM_004958.4(MTOR):c.841-6A>G SNV Uncertain Significance
1031481 rs539605016 GRCh37: 1:11308157-11308157
GRCh38: 1:11248100-11248100
33 TSC2 NM_000548.5(TSC2):c.1840-4A>G SNV Uncertain Significance
390347 rs1057523736 GRCh37: 16:2121507-2121507
GRCh38: 16:2071506-2071506
34 TSC1 NM_000368.5(TSC1):c.598G>A (p.Val200Ile) SNV Uncertain Significance
49067 rs118203410 GRCh37: 9:135797271-135797271
GRCh38: 9:132921884-132921884
35 MTOR NM_004958.4(MTOR):c.3452A>G (p.Tyr1151Cys) SNV Uncertain Significance
833826 rs151082401 GRCh37: 1:11272478-11272478
GRCh38: 1:11212421-11212421
36 TSC2 NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) SNV Uncertain Significance
1028342 rs777223264 GRCh37: 16:2138070-2138070
GRCh38: 16:2088069-2088069
37 TSC1 NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) SNV Uncertain Significance
365517 rs886063623 GRCh37: 9:135781220-135781220
GRCh38: 9:132905833-132905833
38 TSC2 NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) SNV Uncertain Significance
41724 rs150195368 GRCh37: 16:2110765-2110765
GRCh38: 16:2060764-2060764
39 TSC1 NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) SNV Uncertain Significance
377283 rs368481360 GRCh37: 9:135781376-135781376
GRCh38: 9:132905989-132905989
40 TSC1 NM_000368.5(TSC1):c.2994C>T (p.Asp998=) SNV Uncertain Significance
699743 rs923543734 GRCh37: 9:135772123-135772123
GRCh38: 9:132896736-132896736
41 TSC2 NM_000548.5(TSC2):c.481+5G>C SNV Uncertain Significance
828016 rs137854135 GRCh37: 16:2104446-2104446
GRCh38: 16:2054445-2054445
42 TSC1 NM_000368.5(TSC1):c.2946A>G (p.Lys982=) SNV Uncertain Significance
912366 rs1845117521 GRCh37: 9:135772600-135772600
GRCh38: 9:132897213-132897213
43 TSC1 NM_000368.5(TSC1):c.*4119T>C SNV Uncertain Significance
912765 rs1844802090 GRCh37: 9:135767503-135767503
GRCh38: 9:132892116-132892116
44 TSC1 NM_000368.5(TSC1):c.*4105C>T SNV Uncertain Significance
912766 rs1588276922 GRCh37: 9:135767517-135767517
GRCh38: 9:132892130-132892130
45 TSC1 NM_000368.5(TSC1):c.*3484A>G SNV Uncertain Significance
912813 rs1335423130 GRCh37: 9:135768138-135768138
GRCh38: 9:132892751-132892751
46 TSC1 NM_000368.5(TSC1):c.*2854T>C SNV Uncertain Significance
912853 rs899761882 GRCh37: 9:135768768-135768768
GRCh38: 9:132893381-132893381
47 TSC1 NM_000368.5(TSC1):c.*2724C>T SNV Uncertain Significance
912854 rs749535135 GRCh37: 9:135768898-135768898
GRCh38: 9:132893511-132893511
48 TSC2 NM_000548.5(TSC2):c.1172_1174del (p.Val391del) DEL Uncertain Significance
626197 rs1567428371 GRCh37: 16:2111922-2111924
GRCh38: 16:2061921-2061923
49 TSC2 NM_000548.5(TSC2):c.2098-3C>A SNV Uncertain Significance
828014 rs876660489 GRCh37: 16:2122239-2122239
GRCh38: 16:2072238-2072238
50 TSC1 NM_000368.5(TSC1):c.*2576T>C SNV Uncertain Significance
365449 rs886063599 GRCh37: 9:135769046-135769046
GRCh38: 9:132893659-132893659

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 rs1085307114
4 MTOR p.Ala1459Asp VAR_078828
5 MTOR p.Ala1459Ser VAR_078829
6 MTOR p.Leu1460Pro VAR_078830 rs1057519779
7 MTOR p.Cys1483Arg VAR_078831 rs1057519914
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 rs1085307113
12 MTOR p.Leu2427Gln VAR_078842 rs1085307113
13 TSC1 p.Arg22Trp VAR_078844 rs749030456
14 TSC1 p.Arg204Cys VAR_078846 rs1060505021
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 GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 TSC2 TSC1 MTOR
2
Show member pathways
13 TSC2 TSC1 MTOR
3
Show member pathways
12.71 TSC2 TSC1 MTOR
4
Show member pathways
12.64 TSC2 TSC1 MTOR
5
Show member pathways
12.63 MTOR TSC1 TSC2
6
Show member pathways
12.46 TSC2 TSC1 MTOR
7
Show member pathways
12.44 TSC2 TSC1 MTOR
8 12.4 TSC2 TSC1 MTOR
9
Show member pathways
12.27 TSC2 TSC1 MTOR
10
Show member pathways
12.1 TSC2 TSC1
11
Show member pathways
12.06 TSC2 TSC1 MTOR
12
Show member pathways
12.03 MTOR TSC1 TSC2
13
Show member pathways
11.97 TSC2 TSC1 MTOR
14
Show member pathways
11.96 TSC2 MTOR
15
Show member pathways
11.96 TSC2 TSC1 MTOR
16
Show member pathways
11.93 TSC2 TSC1 MTOR
17 11.91 TSC2 TSC1 MTOR
18
Show member pathways
11.88 TSC2 TSC1 MTOR
19 11.86 TSC2 TSC1 MTOR
20
Show member pathways
11.84 TSC2 MTOR
21
Show member pathways
11.82 TSC2 TSC1 MTOR
22
Show member pathways
11.8 TSC2 TSC1 MTOR
23
Show member pathways
11.76 TSC2 TSC1 MTOR
24
Show member pathways
11.75 TSC2 MTOR
25
Show member pathways
11.71 MTOR TSC1 TSC2
26 11.64 TSC2 MTOR
27 11.63 TSC2 TSC1
28 11.57 TSC2 TSC1 MTOR
29
Show member pathways
11.56 TSC2 MTOR
30 11.54 TSC2 TSC1 MTOR
31 11.5 TSC2 TSC1 MTOR
32 11.41 TSC2 TSC1 MTOR
33 11.3 TSC2 MTOR
34 11.29 TSC2 TSC1 MTOR
35
Show member pathways
11.21 TSC2 TSC1 MTOR
36 11.12 TSC1 MTOR
37 11.1 TSC2 MTOR
38 11.01 TSC2 TSC1 MTOR
39 10.84 TSC1 MTOR
40 10.7 TSC2 TSC1 MTOR
41 10.14 TSC2 TSC1 MTOR

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 TSC1-TSC2 complex GO:0033596 8.92 TSC2 TSC1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neural tube closure GO:0001843 9.78 TSC2 TSC1
2 response to insulin GO:0032868 9.76 TSC1 MTOR
3 positive regulation of stress fiber assembly GO:0051496 9.71 TSC1 MTOR
4 cell projection organization GO:0030030 9.67 TSC1 MTOR
5 positive regulation of macroautophagy GO:0016239 9.67 TSC1 TSC2
6 negative regulation of TOR signaling GO:0032007 9.62 TSC2 TSC1
7 response to nutrient levels GO:0031667 9.61 TSC1 MTOR
8 negative regulation of macroautophagy GO:0016242 9.46 TSC1 MTOR
9 regulation of protein kinase activity GO:0045859 9.43 TSC1 MTOR
10 anoikis GO:0043276 9.26 TSC2 MTOR
11 negative regulation of cell size GO:0045792 8.92 TSC1 MTOR

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

# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.92 TSC2 TSC1

Sources for Focal Cortical Dysplasia, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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