CDCBM
MCID: CMP082
MIFTS: 16

Complex Cortical Dysplasia with Other Brain Malformations (CDCBM)

Categories: Neuronal diseases

Aliases & Classifications for Complex Cortical Dysplasia with Other Brain Malformations

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

Name: Complex Cortical Dysplasia with Other Brain Malformations 12 38
Cortical Dysplasia, Complex, with Other Brain Malformations 30 13
Dysplasia, Cortical, Complex, with Other Brain Malformations 41
Dysplasia ,cortical, Complex, with Other Brain Malformations 41
Cdcbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090131
KEGG 38 H01881

Summaries for Complex Cortical Dysplasia with Other Brain Malformations

Disease Ontology : 12 A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations including; polymicrogyria, gyral disorganization, fusion of the basal ganglia, thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis and behavioral phenotypes including; intellectual disablility, strabismus, axial hypotonia, and spasticity.

MalaCards based summary : Complex Cortical Dysplasia with Other Brain Malformations, also known as cortical dysplasia, complex, with other brain malformations, is related to cortical dysplasia, complex, with other brain malformations 8 and cortical dysplasia, complex, with other brain malformations 1. An important gene associated with Complex Cortical Dysplasia with Other Brain Malformations is KIF5C (Kinesin Family Member 5C), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include brain.

Related Diseases for Complex Cortical Dysplasia with Other Brain Malformations

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



Diseases related to Complex Cortical Dysplasia with Other Brain Malformations

Symptoms & Phenotypes for Complex Cortical Dysplasia with Other Brain Malformations

Drugs & Therapeutics for Complex Cortical Dysplasia with Other Brain Malformations

Search Clinical Trials , NIH Clinical Center for Complex Cortical Dysplasia with Other Brain Malformations

Genetic Tests for Complex Cortical Dysplasia with Other Brain Malformations

Genetic tests related to Complex Cortical Dysplasia with Other Brain Malformations:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 30

Anatomical Context for Complex Cortical Dysplasia with Other Brain Malformations

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

42
Brain

Publications for Complex Cortical Dysplasia with Other Brain Malformations

Variations for Complex Cortical Dysplasia with Other Brain Malformations

Expression for Complex Cortical Dysplasia with Other Brain Malformations

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

Pathways for Complex Cortical Dysplasia with Other Brain Malformations

Pathways related to Complex Cortical Dysplasia with Other Brain Malformations according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 KIF5C TUBB2A

GO Terms for Complex Cortical Dysplasia with Other Brain Malformations

Cellular components related to Complex Cortical Dysplasia with Other Brain Malformations according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 KIF5C TUBB2A
2 microtubule GO:0005874 8.62 KIF5C TUBB2A

Sources for Complex Cortical Dysplasia with Other Brain Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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