MCID: CRB211
MIFTS: 25

Cerebral Cortical Dysplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Cortical Dysplasia

MalaCards integrated aliases for Cerebral Cortical Dysplasia:

Name: Cerebral Cortical Dysplasia 59
Brain Cortical Dysplasia 59

Classifications:



External Ids:

ICD10 via Orphanet 34 Q04.8
UMLS via Orphanet 73 C0431380
Orphanet 59 ORPHA268950

Summaries for Cerebral Cortical Dysplasia

MalaCards based summary : Cerebral Cortical Dysplasia, also known as brain cortical dysplasia, is related to hemimegalencephaly and macrodactyly. An important gene associated with Cerebral Cortical Dysplasia is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are Neuroscience and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Affiliated tissues include brain, cortex and cerebellum.

Related Diseases for Cerebral Cortical Dysplasia

Diseases related to Cerebral Cortical Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 hemimegalencephaly 10.1
2 macrodactyly 9.9 TSC1 MAPT
3 adams-oliver syndrome 1 9.8
4 septooptic dysplasia 9.8
5 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
6 oliver syndrome 9.8
7 schizencephaly 9.8
8 band heterotopia 9.8
9 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
10 adams-oliver syndrome 9.8
11 epilepsy 9.8
12 ganglioglioma 9.8
13 polymicrogyria 9.8
14 absence of septum pellucidum 9.8
15 aplasia cutis congenita 9.8
16 pachygyria 9.8
17 headache 9.8
18 megalencephaly 9.8
19 obsolete: brachydactyly of fingers 9.8
20 bilateral polymicrogyria 9.8
21 unilateral polymicrogyria 9.8
22 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 9.7 RPS27A MAPT
23 semantic dementia 9.6 RPS27A MAPT
24 neuronal intranuclear inclusion disease 9.6 RPS27A MAPT
25 corticobasal degeneration 9.6 RPS27A MAPT
26 supranuclear palsy, progressive, 1 9.6 RPS27A MAPT
27 multiple system atrophy 1 9.5 RPS27A MAPT
28 pick disease of brain 9.5 RPS27A MAPT
29 inclusion body myositis 9.5 RPS27A MAPT
30 leukoencephalopathy, hereditary diffuse, with spheroids 9.4 RPS27A MAPT
31 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 RPS27A MAPT
32 frontotemporal dementia 9.4 RPS27A MAPT
33 dementia, lewy body 9.3 RPS27A MAPT
34 amyotrophic lateral sclerosis 1 9.2 RPS27A MAPT GRIA1
35 motor neuron disease 9.1 RPS27A MAPT

Graphical network of the top 20 diseases related to Cerebral Cortical Dysplasia:



Diseases related to Cerebral Cortical Dysplasia

Symptoms & Phenotypes for Cerebral Cortical Dysplasia

Drugs & Therapeutics for Cerebral Cortical Dysplasia

Search Clinical Trials , NIH Clinical Center for Cerebral Cortical Dysplasia

Genetic Tests for Cerebral Cortical Dysplasia

Anatomical Context for Cerebral Cortical Dysplasia

MalaCards organs/tissues related to Cerebral Cortical Dysplasia:

41
Brain, Cortex, Cerebellum

Publications for Cerebral Cortical Dysplasia

Articles related to Cerebral Cortical Dysplasia:

(show all 36)
# Title Authors PMID Year
1
Cerebral Small Vessel Disease Biomarkers Detection on MRI-Sensor-Based Image and Deep Learning. 38
31174277 2019
2
Loss of Shp2 within radial glia is associated with cerebral cortical dysplasia, glial defects of cerebellum and impaired sensory‑motor development in newborn mice. 38
29257282 2018
3
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. 38
28263952 2017
4
Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter. 38
27543776 2016
5
Proteomic and Mitochondrial Genomic Analyses of Pediatric Brain Tumors. 38
25341474 2015
6
Bilateral periventricular nodular heterotopia with megalencephaly: a case report. 38
23439715 2014
7
Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection. 38
25429223 2014
8
Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7. 38
19860813 2010
9
A rare case of cerebral cortical dysplasia with arterial vascular dysplasia. 38
19960756 2009
10
Ganglioglioma associated with cerebral cortical dysplasia: an unusual case with extensive leptomeningeal involvement. 38
18338935 2008
11
[Cutaneous hemangiomas and vascular malformations and associated pathology (Pascual-Castroviejo type II syndrome). Study of 41 patients]. 38
16075401 2005
12
MRI in children with mental retardation. 38
12695867 2003
13
Neurotrophin receptor immunoreactivity in severe cerebral cortical dysplasia. 38
12121325 2002
14
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 38
11165248 2001
15
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 38
11053680 2000
16
Cerebral cortical dysplasia: assessment by MRI and SPECT. 38
11118796 2000
17
Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. 38
10634459 2000
18
Cerebral cortical dysplasia: giant neurons show potential for increased excitation and axonal plasticity. 38
10575249 1999
19
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome. 38
10440823 1999
20
Late-onset epilepsy associated with regional brain cortical dysplasia. 38
10394042 1999
21
[Type II lissencephaly: presentation of intermediate form]. 38
9803503 1998
22
Neuroimaging manifestations and classification of congenital muscular dystrophies. 38
9763366 1998
23
Focal cortical dysplasia and hemimegalencephaly: histological and neuroimaging correlations. 38
9716627 1998
24
Fukuyama congenital muscular dystrophy: a neuroradiologic review. 38
9562058 1998
25
An autopsy case of bathtub drowning in epilepsy. 38
9408600 1997
26
Arterial vascular abnormality accompanying cerebral cortical dysplasia. 38
9010533 1997
27
[Cerebral cortical dysplasia associated with epilepsy: MRI and clinical aspects]. 38
8986096 1997
28
Septo-optic dysplasia associated with cerebral cortical dysplasia (cortico-septo-optic dysplasia). 38
9107111 1996
29
Brain MR in Fukuyama congenital muscular dystrophy. 38
8730178 1996
30
Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. 38
8881240 1996
31
Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report. 38
8748908 1995
32
Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. 38
7876884 1995
33
Neuronal cytoskeletal abnormalities in human cerebral cortical dysplasia. 38
8059602 1994
34
An assessment of the proliferative potential of 'balloon cells' in focal cortical resections performed for childhood epilepsy. 38
1283204 1992
35
Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type). 38
6737009 1984
36
Unilateral megalencephaly, cerebral cortical dysplasia, neuronal hypertrophy, and heterotopia: cytomorphometric, fluorometric cytochemical, and biochemical analyses. 38
419942 1979

Variations for Cerebral Cortical Dysplasia

ClinVar genetic disease variations for Cerebral Cortical Dysplasia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TSC1 NM_000368.4(TSC1): c.989dup (p.Ser331fs) duplication Pathogenic rs118203478 9:135786880-135786880 9:132911493-132911493
2 FAM20C NM_020223.4(FAM20C): c.1225C> T (p.Arg409Cys) single nucleotide variant Likely pathogenic rs730882220 7:295967-295967 7:256001-256001
3 TBR1 NM_006593.4(TBR1): c.1652dup (p.Gln552fs) duplication Likely pathogenic rs1553511224 2:162280341-162280341 2:161423830-161423830
4 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance

Expression for Cerebral Cortical Dysplasia

Search GEO for disease gene expression data for Cerebral Cortical Dysplasia.

Pathways for Cerebral Cortical Dysplasia

Pathways related to Cerebral Cortical Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 RPS27A MAPT GRIA1
2 11.11 MAPT GRIA1

GO Terms for Cerebral Cortical Dysplasia

Cellular components related to Cerebral Cortical Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.5 TSC1 MAPT GRIA1
2 dendritic spine GO:0043197 9.26 MAPT GRIA1
3 growth cone GO:0030426 9.16 TSC1 MAPT
4 endocytic vesicle membrane GO:0030666 8.96 RPS27A GRIA1
5 somatodendritic compartment GO:0036477 8.62 MAPT GRIA1

Biological processes related to Cerebral Cortical Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse organization GO:0050808 8.62 TSC1 MAPT

Molecular functions related to Cerebral Cortical Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 8.96 TSC1 MAPT
2 Hsp90 protein binding GO:0051879 8.62 TSC1 MAPT

Sources for Cerebral Cortical Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....