CDCBM5
MCID: CRT073
MIFTS: 20

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

Categories: Genetic diseases, Neuronal 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 58 76 30 6 74
Cdcbm5 58 12 76
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 5 41
Complex Cortical Dysplasia with Other Brain Malformations 5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cortical dysplasia, complex, with other brain malformations 5:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 ventriculomegaly and hypsarrhythmia

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB2A gene on chromosome 6p25.

Description from OMIM: 615763

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 5

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 33 occasional (7.5%) HP:0002119
2 hypsarrhythmia 33 occasional (7.5%) HP:0002521
3 hypoplasia of the brainstem 33 occasional (7.5%) HP:0002365
4 simplified gyral pattern 33 occasional (7.5%) HP:0009879
5 seizures 33 HP:0001250
6 global developmental delay 33 HP:0001263
7 generalized hypotonia 33 HP:0001290
8 hypoplasia of the corpus callosum 33 HP:0002079
9 cortical dysplasia 33 HP:0002539

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
Brain, Pons, Thalamus

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

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

# Title Authors Year
1
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. ( 24702957 )
2014

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

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

76
# Symbol AA change Variation ID SNP ID
1 TUBB2A p.Asn247Lys VAR_071168 rs886037663
2 TUBB2A p.Ala248Val VAR_071169 rs2808001

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB2A NM_001069.2(TUBB2A): c.741C> G (p.Asn247Lys) single nucleotide variant Pathogenic rs886037663 GRCh37 Chromosome 6, 3154694: 3154694
2 TUBB2A NM_001069.2(TUBB2A): c.741C> G (p.Asn247Lys) single nucleotide variant Pathogenic rs886037663 GRCh38 Chromosome 6, 3154460: 3154460
3 TUBB2A NM_001069.2(TUBB2A): c.743C> T (p.Ala248Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2808001 GRCh37 Chromosome 6, 3154692: 3154692
4 TUBB2A NM_001069.2(TUBB2A): c.743C> T (p.Ala248Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2808001 GRCh38 Chromosome 6, 3154458: 3154458
5 TUBB2A NM_001069.2(TUBB2A): c.1033A> T (p.Ile345Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797046074 GRCh38 Chromosome 6, 3154168: 3154168
6 TUBB2A NM_001069.2(TUBB2A): c.1033A> T (p.Ile345Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797046074 GRCh37 Chromosome 6, 3154402: 3154402
7 TUBB2A NM_001069.2(TUBB2A): c.872A> C (p.Gln291Pro) single nucleotide variant Likely pathogenic rs863224939 GRCh38 Chromosome 6, 3154329: 3154329
8 TUBB2A NM_001069.2(TUBB2A): c.872A> C (p.Gln291Pro) single nucleotide variant Likely pathogenic rs863224939 GRCh37 Chromosome 6, 3154563: 3154563
9 TUBB2A NM_001069.2(TUBB2A): c.602C> G (p.Ser201Cys) single nucleotide variant Uncertain significance rs1054331 GRCh37 Chromosome 6, 3154833: 3154833
10 TUBB2A NM_001069.2(TUBB2A): c.602C> G (p.Ser201Cys) single nucleotide variant Uncertain significance rs1054331 GRCh38 Chromosome 6, 3154599: 3154599

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

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