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


Classifications:

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 08-Dec-2022)

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

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

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

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

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 194)
# 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 28.7 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 seizure 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 spasm 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 08-Dec-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 08-Dec-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 377)
# 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
Basal ganglia dysplasia and mTORopathy: a potential cause of postoperative seizures in focal cortical dysplasia. 62
36461712 2022
14
[Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type Ⅱ]. 62
36323541 2022
15
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. 62
35953082 2022
16
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing. 62
36342087 2022
17
Downregulated formyl peptide receptor 2 expression in the epileptogenic foci of patients with focal cortical dysplasia type IIb and tuberous sclerosis complex. 62
36301030 2022
18
Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line. 62
35961105 2022
19
Is intracranial electroencephalography mandatory for MRI-negative neocortical epilepsy surgery? 62
36242573 2022
20
Focal cortical dysplasia pathology: diagnostic difficulty, classification, and utility for pathogenesis. 62
36183176 2022
21
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II. 62
36065086 2022
22
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
23
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
24
18 F-SynVesT-1 PET in Focal Cortical Dysplasia Type II With Thickening Cortex. 62
35384870 2022
25
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. 62
35441233 2022
26
Black Line Sign in Focal Cortical Dysplasia IIB: A 7T MRI and Electroclinicopathologic Study. 62
35940890 2022
27
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
28
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
29
Benefits and Risks of Epilepsy Surgery in Patients With Focal Cortical Dysplasia Type 2 in the Central Region. 62
35418453 2022
30
Focal thalamocortical circuit abnormalities in sleep related epilepsy caused by focal cortical dysplasia type II. 62
35640469 2022
31
MR Imaging Detection of CNS Lesions in Tuberous Sclerosis Complex: The Usefulness of T1WI with Chemical Shift Selective Images. 62
35835590 2022
32
Current Review in Basic Science: Animal Models of Focal Cortical Dysplasia and Epilepsy. 62
36187145 2022
33
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
34
A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome. 62
35241305 2022
35
Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model. 62
34957478 2022
36
Unexpected Effect of IL-1β on the Function of GABAA Receptors in Pediatric Focal Cortical Dysplasia. 62
35741692 2022
37
Multifocal multilobar focal cortical dysplasia type IIa in Febrile Infection Related Epilepsy Syndrome (FIRES). 62
35483186 2022
38
Focal cortical dysplasia: Updates. 62
35562149 2022
39
Black Line Sign in Focal Cortical Dysplasia IIB: A 7T MRI and Electro-clinico-pathologic Study. 62
35577576 2022
40
Screening and identification of novel candidate biomarkers of focal cortical dysplasia type II via bioinformatics analysis. 62
35112146 2022
41
Multimodal prognostic features of seizure freedom in epilepsy surgery. 62
35246493 2022
42
Localizing and Lateralizing Value of Seizure Onset Pattern on Surface EEG in FCD Type II. 62
35231790 2022
43
Reorganization of Parvalbumin Immunopositive Perisomatic Innervation of Principal Cells in Focal Cortical Dysplasia Type IIB in Human Epileptic Patients. 62
35563137 2022
44
MRI of focal cortical dysplasia. 62
34839379 2022
45
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. 62
35097204 2022
46
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II. 62
35040598 2022
47
Not Your Everyday FCD: Imaging Findings of Focal Cortical Dysplasia Type 1. 62
35600762 2022
48
Focal cortical dysplasia (FCD) type IIb: A pathologists' delight. 62
35075009 2022
49
Relationship Between the Ability to Detect Frequency Changes or Temporal Gaps and Speech Perception Performance in Post-lingual Cochlear Implant Users. 62
35757528 2022
50
An Investigation into the Correlation of Scalp Electrophysiological Findings with Preoperative Clinical and Imaging Findings in Patients with Focal Cortical Dysplasia. 62
35713255 2022

Variations for Focal Cortical Dysplasia, Type Ii

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

5 (show top 50) (show all 345)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTOR NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln) SNV Pathogenic
417724 rs1085307113 GRCh37: 1:11174395-11174395
GRCh38: 1:11114338-11114338
2 MTOR NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile) SNV Pathogenic
584432 rs587777893 GRCh37: 1:11188164-11188164
GRCh38: 1:11128107-11128107
3 MTOR NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) SNV Pathogenic
217823 rs863225264 GRCh37: 1:11190804-11190804
GRCh38: 1:11130747-11130747
4 MTOR NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly) SNV Pathogenic
417727 rs1085307114 GRCh37: 1:11217312-11217312
GRCh38: 1:11157255-11157255
5 TSC1 NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) SNV Pathogenic
417732 rs1060505021 GRCh37: 9:135797259-135797259
GRCh38: 9:132921872-132921872
6 TSC1 NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) SNV Pathogenic
49083 rs118203427 GRCh37: 9:135796805-135796805
GRCh38: 9:132921418-132921418
7 TSC2 NM_000548.5(TSC2):c.5161-1G>A SNV Pathogenic
49943 rs45517404 GRCh37: 16:2138227-2138227
GRCh38: 16:2088226-2088226
8 TSC2 NM_000548.5(TSC2):c.1458del (p.Ser487fs) DEL Pathogenic
626195 rs1567437155 GRCh37: 16:2114287-2114287
GRCh38: 16:2064286-2064286
9 TSC1 NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV Pathogenic
48885 rs118203631 GRCh37: 9:135779172-135779172
GRCh38: 9:132903785-132903785
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.5138G>A (p.Arg1713His) SNV Pathogenic
49930 rs45517395 GRCh37: 16:2138118-2138118
GRCh38: 16:2088117-2088117
12 TSC2 NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV Pathogenic
49471 rs45517412 GRCh37: 16:2138294-2138294
GRCh38: 16:2088293-2088293
13 TSC2 NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) SNV Pathogenic
238056 rs745895675 GRCh37: 16:2135300-2135300
GRCh38: 16:2085299-2085299
14 TSC1 NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) SNV Pathogenic
417731 rs749030456 GRCh37: 9:135804196-135804196
GRCh38: 9:132928809-132928809
15 MTOR NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) SNV Pathogenic
156703 rs587777894 GRCh37: 1:11184573-11184573
GRCh38: 1:11124516-11124516
16 MTOR NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) SNV Pathogenic
376129 rs587777894 GRCh37: 1:11184573-11184573
GRCh38: 1:11124516-11124516
17 MTOR NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) SNV Pathogenic
376130 rs1057519779 GRCh37: 1:11217299-11217299
GRCh38: 1:11157242-11157242
18 MTOR NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro) SNV Pathogenic
417723 rs1085307113 GRCh37: 1:11174395-11174395
GRCh38: 1:11114338-11114338
19 TSC2 NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) SNV Pathogenic
49643 rs45469298 GRCh37: 16:2120571-2120571
GRCh38: 16:2070570-2070570
20 TSC2 NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV Pathogenic
12397 rs28934872 GRCh37: 16:2120572-2120572
GRCh38: 16:2070571-2070571
21 TSC2 NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) SNV Pathogenic
12396 rs45517179 GRCh37: 16:2114342-2114342
GRCh38: 16:2064341-2064341
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.2713C>T (p.Arg905Trp) SNV Pathogenic
12404 rs45517258 GRCh37: 16:2126142-2126142
GRCh38: 16:2076141-2076141
24 TSC1 NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) SNV Pathogenic
48941 rs118203680 GRCh37: 9:135778042-135778042
GRCh38: 9:132902655-132902655
25 TSC2 NM_000548.5(TSC2):c.225+1G>A SNV Likely Pathogenic
626196 rs1567387207 GRCh37: 16:2100488-2100488
GRCh38: 16:2050487-2050487
26 TSC2 NM_000548.5(TSC2):c.2318dup (p.Leu773fs) DUP Likely Pathogenic
828015 rs1596350476 GRCh37: 16:2122945-2122946
GRCh38: 16:2072944-2072945
27 TSC1 NM_000368.5(TSC1):c.1033del (p.Thr345fs) DEL Likely Pathogenic
626194 rs1564488264 GRCh37: 9:135786497-135786497
GRCh38: 9:132911110-132911110
28 TSC2 NM_000548.5(TSC2):c.2545+5G>C SNV Likely Pathogenic
430442 rs1131691965 GRCh37: 16:2124395-2124395
GRCh38: 16:2074394-2074394
29 MTOR NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) SNV Likely Pathogenic
1685378 GRCh37: 1:11227530-11227530
GRCh38: 1:11167473-11167473
30 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
31 TSC1 NM_000368.5(TSC1):c.*3272A>G SNV Uncertain Significance
913173 rs866920023 GRCh37: 9:135768350-135768350
GRCh38: 9:132892963-132892963
32 TSC1 NM_000368.5(TSC1):c.*3170G>A SNV Uncertain Significance
913174 rs367605870 GRCh37: 9:135768452-135768452
GRCh38: 9:132893065-132893065
33 TSC1 NM_000368.5(TSC1):c.*2104A>G SNV Uncertain Significance
913270 rs1019153783 GRCh37: 9:135769518-135769518
GRCh38: 9:132894131-132894131
34 TSC1 NM_000368.5(TSC1):c.*1474G>A SNV Uncertain Significance
913307 rs1013551475 GRCh37: 9:135770148-135770148
GRCh38: 9:132894761-132894761
35 TSC1 NM_000368.5(TSC1):c.*1452A>C SNV Uncertain Significance
913308 rs969974293 GRCh37: 9:135770170-135770170
GRCh38: 9:132894783-132894783
36 TSC1 NM_000368.5(TSC1):c.*1036C>G SNV Uncertain Significance
913359 rs1844969383 GRCh37: 9:135770586-135770586
GRCh38: 9:132895199-132895199
37 TSC1 NM_000368.5(TSC1):c.*350G>A SNV Uncertain Significance
913407 rs1845006725 GRCh37: 9:135771272-135771272
GRCh38: 9:132895885-132895885
38 TSC1 NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) SNV Uncertain Significance
912421 rs397514846 GRCh37: 9:135781206-135781206
GRCh38: 9:132905819-132905819
39 TSC1 NM_000368.5(TSC1):c.261A>G (p.Leu87=) SNV Uncertain Significance
913607 rs1407780510 GRCh37: 9:135801076-135801076
GRCh38: 9:132925689-132925689
40 TSC1 NM_000368.5(TSC1):c.*4680G>T SNV Uncertain Significance
913084 rs747969932 GRCh37: 9:135766942-135766942
GRCh38: 9:132891555-132891555
41 TSC1 NM_000368.5(TSC1):c.*4538A>G SNV Uncertain Significance
914228 rs1036825417 GRCh37: 9:135767084-135767084
GRCh38: 9:132891697-132891697
42 TSC1 NM_000368.5(TSC1):c.*4522C>T SNV Uncertain Significance
914229 rs918338551 GRCh37: 9:135767100-135767100
GRCh38: 9:132891713-132891713
43 TSC1 NM_000368.5(TSC1):c.*3959T>C SNV Uncertain Significance
913127 rs1445439695 GRCh37: 9:135767663-135767663
GRCh38: 9:132892276-132892276
44 TSC1 NM_000368.5(TSC1):c.*3092T>C SNV Uncertain Significance
913175 rs1844856793 GRCh37: 9:135768530-135768530
GRCh38: 9:132893143-132893143
45 TSC1 NM_000368.5(TSC1):c.*3045A>G SNV Uncertain Significance
914310 rs746365344 GRCh37: 9:135768577-135768577
GRCh38: 9:132893190-132893190
46 TSC1 NM_000368.5(TSC1):c.*3034T>C SNV Uncertain Significance
914311 rs764220703 GRCh37: 9:135768588-135768588
GRCh38: 9:132893201-132893201
47 TSC1 NM_000368.5(TSC1):c.*2924T>C SNV Uncertain Significance
914312 rs1844864883 GRCh37: 9:135768698-135768698
GRCh38: 9:132893311-132893311
48 TSC2 NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) SNV Uncertain Significance
468021 rs1060500939 GRCh37: 16:2130319-2130319
GRCh38: 16:2080318-2080318
49 TSC2 NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) SNV Uncertain Significance
49522 rs45517322 GRCh37: 16:2133768-2133768
GRCh38: 16:2083767-2083767
50 TSC1 NM_000368.5(TSC1):c.2303G>A (p.Arg768His) SNV Uncertain Significance
411249 rs1033725987 GRCh37: 9:135778080-135778080
GRCh38: 9:132902693-132902693

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
11.77 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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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