CDCBM10
MCID: CRT089
MIFTS: 36

Cortical Dysplasia, Complex, with Other Brain Malformations 10 (CDCBM10)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 10

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 10:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 10 56 73 6
Cdcbm10 56 73
Malformations of Cortical Development 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 56 618677
OMIM Phenotypic Series 56 PS614039
MeSH 43 D054220
MedGen 41 CN262902

Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 10

OMIM : 56 Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). (618677)

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 10, also known as cdcbm10, is related to cortical dysplasia, complex, with other brain malformations 1 and neuronal migration disorders. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 10 is APC2 (APC Regulator Of WNT Signaling Pathway 2). The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe.

UniProtKB/Swiss-Prot : 73 Cortical dysplasia, complex, with other brain malformations 10: An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter.

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Diseases in the Complex Cortical Dysplasia with Other Brain Malformations family:

Cortical Dysplasia, Complex, with Other Brain Malformations 7 Cortical Dysplasia, Complex, with Other Brain Malformations 8
Cortical Dysplasia, Complex, with Other Brain Malformations 1 Cortical Dysplasia, Complex, with Other Brain Malformations 2
Cortical Dysplasia, Complex, with Other Brain Malformations 3 Cortical Dysplasia, Complex, with Other Brain Malformations 4
Cortical Dysplasia, Complex, with Other Brain Malformations 5 Cortical Dysplasia, Complex, with Other Brain Malformations 6
Cortical Dysplasia, Complex, with Other Brain Malformations 9 Cortical Dysplasia, Complex, with Other Brain Malformations 10

Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 1 12.2
2 neuronal migration disorders 11.8
3 polymicrogyria 11.6
4 microlissencephaly 11.5
5 cortical malformations, occipital 11.5
6 focal cortical dysplasia, type ii 11.5
7 polymicrogyria, bilateral perisylvian, x-linked 11.4
8 cortical dysplasia, complex, with other brain malformations 2 11.4
9 cortical dysplasia, complex, with other brain malformations 3 11.4
10 cortical dysplasia, complex, with other brain malformations 4 11.4
11 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
12 polymicrogyria, bilateral frontoparietal 11.1
13 mental retardation, autosomal dominant 6, with or without seizures 11.1
14 cortical dysplasia, complex, with other brain malformations 6 11.1
15 epileptic encephalopathy, early infantile, 27 11.1
16 lissencephaly 6 with microcephaly 11.1
17 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 11.1
18 continuous spike-wave during slow sleep syndrome 11.1
19 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.7
20 metaphyseal chondrodysplasia, schmid type 10.6
21 lissencephaly 10.6
22 schizencephaly 10.5
23 epilepsy 10.5
24 tuberous sclerosis 10.5
25 periventricular nodular heterotopia 10.4
26 focal epilepsy 10.4
27 hemimegalencephaly 10.4
28 pachygyria 10.4
29 tuberous sclerosis 1 10.4
30 band heterotopia 10.4
31 microcephaly 10.3
32 tubulinopathies 10.3
33 seizure disorder 10.2
34 alacrima, achalasia, and mental retardation syndrome 10.2
35 visual epilepsy 10.2
36 west syndrome 10.2
37 cerebellar hypoplasia 10.2
38 corpus callosum, agenesis of 10.1
39 encephalopathy 10.1
40 lissencephaly 1 10.1
41 status epilepticus 10.1
42 temporal lobe epilepsy 10.1
43 isolated focal cortical dysplasia type i 10.1
44 lipomatosis, multiple 10.0
45 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
46 tukel syndrome 10.0
47 pleomorphic lipoma 10.0
48 ganglioglioma 10.0
49 learning disability 10.0
50 megalencephaly 10.0

Graphical network of the top 20 diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 10:



Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 10

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
pachygyria
inability to walk
cortical dysplasia
agyria
enlarged ventricles
more
Muscle Soft Tissue:
limb hypertonia
axial hypotonia

Clinical features from OMIM:

618677

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Drugs for Cortical Dysplasia, Complex, with Other Brain Malformations 10 (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 Immunosuppressive Agents Phase 2
3 Anticonvulsants 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) Recruiting NCT03198949 Phase 2 Afinitor (everolimus)
2 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
3 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
4 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045
5 Determining the Extent of Diffusion Tensor Abnormalities in Focal Cortical Dysplasia Completed NCT00687024
6 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641
7 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Recruiting NCT02654340
8 Study of Predictive Biomarkers for Rational Management of Drug-resistant Epilepsy Associated With Focal Cortical Dysplasia Recruiting NCT03321240
9 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
10 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 Cortical Dysplasia, Complex, with Other Brain Malformations 10

Cochrane evidence based reviews: malformations of cortical development

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 10

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 10:

40
Brain, Cortex, Temporal Lobe, Fetal Brain, Eye, Testes, Bone

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 10:

(show top 50) (show all 604)
# Title Authors PMID Year
1
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. 56 6
31585108 2019
2
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. 56
25753423 2015
3
Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. 56
22573669 2012
4
A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat. 61
32179177 2020
5
pCREB expression in human tissues from epilepsy surgery. 61
32463128 2020
6
SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. 61
32515017 2020
7
Eight-Year Experience With 3-T Intraoperative MRI Integration in Focal Pediatric Epilepsy Surgery: Impact on Extent of Resection, Residual Volumes, and Seizure Outcomes. 61
32208007 2020
8
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD). 61
32562872 2020
9
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. 61
32570172 2020
10
The role of adenosine A1 receptor agonist in adenosine augmentation therapy for patients with refractory epilepsy in Sturge-Weber syndrome: An in vitro electrophysiological study. 61
32208337 2020
11
Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy. 61
32430581 2020
12
Respective Contribution of Ictal and Inter-ictal Electrical Source Imaging to Epileptogenic Zone Localization. 61
32285239 2020
13
Surgical histopathologic findings of 232 Chinese children cases with drug-resistant seizures. 61
32058680 2020
14
Risk factors and results of hemispherotomy reoperations in children. 61
32234979 2020
15
Same same but different: A Web-based deep learning application revealed classifying features for the histopathologic distinction of cortical malformations. 61
32080846 2020
16
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny. 61
31919497 2020
17
Novel therapeutic targets in epilepsy: oxidative stress and iron metabolism. 61
32155661 2020
18
Motor function in children with congenital Zika syndrome. 61
30945276 2020
19
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development. 61
31481326 2020
20
mTOR-Related Cell-Clearing Systems in Epileptic Seizures, an Update. 61
32121250 2020
21
Seizure outcome of pediatric epilepsy surgery: Systematic review and meta-analyses. 61
31996452 2020
22
Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants. 61
31677916 2020
23
Multimodal Analysis of STRADA Function in Brain Development. 61
32457579 2020
24
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
25
Interhemispheric cistern lipoma associated with malformations of cortical development, hypogenesis of the corpus callosum, and abnormal vasculature. 61
31923120 2020
26
In vivo MRI Successfully Reveals the Malformation of Cortical Development in Infant Rats. 61
32508585 2020
27
A journey through formation and malformations of the neo-cortex. 61
31776716 2020
28
Etiology and Clinical Impact of Interictal Periodic Discharges on the Routine Outpatient Scalp EEG. 61
31904663 2020
29
Repetitive miniature spikes - An underreported EEG pattern. 61
31751838 2020
30
Mechanistic target of rapamycin (mTOR) signaling in status epilepticus. 61
31732331 2019
31
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. 61
31444548 2019
32
Interhemispheric cistern lipoma associated with malformations of cortical development, hypogenesis of the corpus callosum, and abnormal vasculature. 61
31855957 2019
33
Changes in vascular density in resected tissue of 97 patients with mild malformation of cortical development, focal cortical dysplasia or TSC-related cortical tubers. 61
31770571 2019
34
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. 61
31625153 2019
35
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 61
31630790 2019
36
Differential DNA Methylation Patterns in Patients with Epilepsy due to Malformations of Cortical Development: A Pilot Study. 61
31857537 2019
37
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy. 61
30414531 2019
38
Epigenetic Regulation of mTOR Pathway in Malformations of Cortical Development. 61
31857538 2019
39
Dynein activating adaptor BICD2 controls radial migration of upper-layer cortical neurons in vivo. 61
31655624 2019
40
New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives. 61
30901081 2019
41
Pathophysiology of neurodevelopmental mTOR pathway-associated epileptic conditions: Current status of biomedical research. 61
31347492 2019
42
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 61
30936465 2019
43
Clinico-etiological Profile and Developmental Status of Infants Aged 1-24 months with Epilepsy. 61
30976964 2019
44
Anatomical hemispherectomy revisited-outcome, blood loss, hydrocephalus, and absence of chronic hemosiderosis. 61
31243582 2019
45
Transvaginal three-dimensional ultrasound assessment of Sylvian fissures at 18-30 weeks' gestation. 61
30381851 2019
46
It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686). 61
30868684 2019
47
Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery. 61
30485578 2019
48
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. 61
30683929 2019
49
Hypervascularization in mTOR-dependent focal and global cortical malformations displays differential rapamycin sensitivity. 61
31125447 2019
50
Migration and Synaptic Aspects of Neurons Derived from Human Induced Pluripotent Stem Cells from Patients with Focal Cortical Dysplasia II. 61
30902678 2019

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 10

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 10:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APC2 NM_005883.2(APC2):c.1081C>T (p.Gln361Ter)SNV Pathogenic 694620 19:1457116-1457116 19:1457117-1457117
2 APC2 NM_005883.2(APC2):c.6645del (p.Ala2217fs)deletion Pathogenic 694621 19:1469940-1469940 19:1469941-1469941
3 APC2 NM_005883.2(APC2):c.737C>A (p.Ser246Ter)SNV Pathogenic 694622 19:1456324-1456324 19:1456325-1456325
4 APC2 NM_005883.2(APC2):c.2840_2846del (p.Leu947fs)deletion Pathogenic 694623 19:1466136-1466142 19:1466137-1466143

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 10.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 10

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 10

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 10

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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
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72 UMLS via Orphanet
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