CDCBM
MCID: CMP082
MIFTS: 20

Complex Cortical Dysplasia with Other Brain Malformations (CDCBM)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare 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 36 15
Dysplasia, Cortical, Complex, with Other Brain Malformations 39
Dysplasia ,cortical, Complex, with Other Brain Malformations 39
Cortical Dysplasia, Complex, with Other Brain Malformations 29
Cdcbm 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090131
KEGG 36 H01881

Summaries for Complex Cortical Dysplasia with Other Brain Malformations

KEGG : 36 Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes has been reported.

MalaCards based summary : Complex Cortical Dysplasia with Other Brain Malformations, also known as dysplasia, cortical, complex, with other brain malformations, is related to cortical dysplasia, complex, with other brain malformations 6 and cortical dysplasia, complex, with other brain malformations 2. 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.

Disease Ontology : 12 A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.

Related Diseases for Complex Cortical Dysplasia with Other Brain Malformations

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 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 Complex Cortical Dysplasia with Other Brain Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 6 32.4 LINC01346 LINC00243 HCG20
2 cortical dysplasia, complex, with other brain malformations 2 32.4 KIF5C KIF1C BICDL1
3 cortical dysplasia, complex, with other brain malformations 1 32.2 NPIPA5 FAM71A
4 cortical dysplasia, complex, with other brain malformations 7 11.9
5 cortical dysplasia, complex, with other brain malformations 3 11.9
6 cortical dysplasia, complex, with other brain malformations 4 11.8
7 cortical dysplasia, complex, with other brain malformations 5 11.8
8 cortical dysplasia, complex, with other brain malformations 9 11.3
9 cortical dysplasia, complex, with other brain malformations 10 11.3
10 pachygyria 10.2
11 spastic ataxia 10.0 TUBB2A KIF1C
12 spastic ataxia 3 9.8 KIF1C BICDL1
13 spastic ataxia 2 9.7 KIF5C KIF1C BICDL1
14 peho syndrome 9.6 KIF1C BICDL1
15 tukel syndrome 9.3 TUBB2A NPIPA5 KIF5C FAM71A

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 29

Anatomical Context for Complex Cortical Dysplasia with Other Brain Malformations

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

40
Brain

Publications for Complex Cortical Dysplasia with Other Brain Malformations

Articles related to Complex Cortical Dysplasia with Other Brain Malformations:

# Title Authors PMID Year
1
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings. 61
32281916 2020

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 TUBB2A KIF5C

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 9.56 TUBB2A KIF5C KIF1C BICDL1
2 microtubule GO:0005874 9.33 TUBB2A KIF5C KIF1C
3 axon cytoplasm GO:1904115 8.96 KIF5C KIF1C
4 kinesin complex GO:0005871 8.62 KIF5C KIF1C

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

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.96 KIF5C KIF1C
2 cytoskeleton-dependent intracellular transport GO:0030705 8.62 KIF5C KIF1C

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

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 8.96 KIF5C KIF1C
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.62 KIF5C KIF1C

Sources for Complex Cortical Dysplasia with Other Brain Malformations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....