CDCBM5
MCID: CRT073
MIFTS: 23

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 57 74 29 6 72
Cdcbm5 57 12 74
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 5 40
Complex Cortical Dysplasia with Other Brain Malformations 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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
MeSH 44 D054081
UMLS 72 C3810407

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

UniProtKB/Swiss-Prot : 74 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 autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25.

More information from OMIM: 615763 PS614039

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 occasional (7.5%) HP:0002119
2 hypsarrhythmia 32 occasional (7.5%) HP:0002521
3 hypoplasia of the brainstem 32 occasional (7.5%) HP:0002365
4 simplified gyral pattern 32 occasional (7.5%) HP:0009879
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 hypoplasia of the corpus callosum 32 HP:0002079
9 cortical dysplasia 32 HP:0002539

Symptoms via clinical synopsis from OMIM:

57
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:

41
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 PMID Year
1
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. 8 71
24702957 2014
2
Tubulinopathies Overview 71
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBB2A NM_001069.3(TUBB2A): c.741C> G (p.Asn247Lys) single nucleotide variant Pathogenic rs886037663 6:3154694-3154694 6:3154460-3154460
2 TUBB2A NM_001069.3(TUBB2A): c.1033A> T (p.Ile345Phe) single nucleotide variant Pathogenic/Likely pathogenic rs797046074 6:3154402-3154402 6:3154168-3154168
3 TUBB2A NM_001069.3(TUBB2A): c.872A> C (p.Gln291Pro) single nucleotide variant Likely pathogenic rs863224939 6:3154563-3154563 6:3154329-3154329
4 TUBB2A NM_001069.3(TUBB2A): c.743C> T (p.Ala248Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2808001 6:3154692-3154692 6:3154458-3154458
5 TUBB2A NM_001069.3(TUBB2A): c.278-7C> T single nucleotide variant Uncertain significance 6:3155164-3155164 6:3154930-3154930
6 TUBB2A NM_001069.3(TUBB2A): c.602C> G (p.Ser201Cys) single nucleotide variant Uncertain significance rs1054331 6:3154833-3154833 6:3154599-3154599

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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