CDCBM5
MCID: CRT073
MIFTS: 24

Cortical Dysplasia, Complex, with Other Brain Malformations 5 (CDCBM5)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 5

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 5:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 5 56 73 29 6 71
Cdcbm5 56 12 73
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 5 39
Complex Cortical Dysplasia with Other Brain Malformations 5 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in early infancy
two unrelated patients have been reported (last curated april 2014)


HPO:

31
cortical dysplasia, complex, with other brain malformations 5:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0090135
OMIM 56 615763
OMIM Phenotypic Series 56 PS614039
MeSH 43 D054081
UMLS 71 C3810407

Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 5

UniProtKB/Swiss-Prot : 73 Cortical dysplasia, complex, with other brain malformations 5: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 5, is also known as cdcbm5, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 5 is TUBB2A (Tubulin Beta 2A Class IIa). Affiliated tissues include brain, pons and thalamus, and related phenotypes are hypoplasia of the brainstem and ventriculomegaly

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.

More information from OMIM: 615763 PS614039

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365
2 ventriculomegaly 31 occasional (7.5%) HP:0002119
3 hypsarrhythmia 31 occasional (7.5%) HP:0002521
4 simplified gyral pattern 31 occasional (7.5%) HP:0009879
5 seizures 31 HP:0001250
6 global developmental delay 31 HP:0001263
7 generalized hypotonia 31 HP:0001290
8 severe global developmental delay 31 HP:0011344
9 hypoplasia of the corpus callosum 31 HP:0002079
10 cortical dysplasia 31 HP:0002539

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
thin corpus callosum
global developmental delay, severe
enlarged ventricles (1 patient)
brainstem hypoplasia (1 patient)
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

615763

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:


seizures

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 5 29 TUBB2A

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 5

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:

40
Brain, Pons, Thalamus, Eye

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 5:

# Title Authors PMID Year
1
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. 56 6
24702957 2014
2
Tubulinopathies Overview 6
27010057 2016

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB2A NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys)SNV Pathogenic 127100 rs886037663 6:3154694-3154694 6:3154460-3154460
2 TUBB2A NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)SNV Pathogenic/Likely pathogenic 212495 rs797046074 6:3154402-3154402 6:3154168-3154168
3 TUBB2A NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)SNV Pathogenic/Likely pathogenic 421739 rs1064795334 6:3155143-3155143 6:3154909-3154909
4 TUBB2A NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val)SNV Likely pathogenic 800924 6:3154257-3154257 6:3154023-3154023
5 TUBB2A NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)SNV Likely pathogenic 217024 rs863224939 6:3154563-3154563 6:3154329-3154329
6 TUBB2A NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)SNV Conflicting interpretations of pathogenicity 127101 rs2808001 6:3154692-3154692 6:3154458-3154458
7 TUBB2A NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys)SNV Conflicting interpretations of pathogenicity 521900 rs1554122907 6:3154264-3154264 6:3154030-3154030
8 TUBB2A NM_001069.3(TUBB2A):c.278-7C>TSNV Uncertain significance 635530 6:3155164-3155164 6:3154930-3154930
9 TUBB2A NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)SNV Uncertain significance 372867 rs1054331 6:3154833-3154833 6:3154599-3154599

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 5:

73
# Symbol AA change Variation ID SNP ID
1 TUBB2A p.Asn247Lys VAR_071168 rs886037663
2 TUBB2A p.Ala248Val VAR_071169 rs2808001

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 5.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 5

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 5

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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