CDCBM1
MCID: CRT070
MIFTS: 24

Cortical Dysplasia, Complex, with Other Brain Malformations 1 (CDCBM1)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 1

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 1:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 1 57 53 75 29 6 73
Cortical Dysgenesis with Pontocerebellar Hypoplasia Due to Tubb3 Mutation 12 53 59
Cdcbm1 57 12 75
Complex Cortical Dysplasia with Other Brain Malformations 1 12
Malformations of Cortical Development, Group Ii 44

Characteristics:

Orphanet epidemiological data:

59
cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
highly variable severity


HPO:

32
cortical dysplasia, complex, with other brain malformations 1:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 1

OMIM : 57 Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010). Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A; 600638), a milder and somewhat different neurologic phenotype. (614039)

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 1, also known as cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation, is related to neuronal migration disorders and cortical dysplasia, complex, with other brain malformations 7, and has symptoms including muscle spasticity An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 1 is TUBB3 (Tubulin Beta 3 Class III). Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and nystagmus

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3.

UniProtKB/Swiss-Prot : 75 Cortical dysplasia, complex, with other brain malformations 1: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved.

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronal migration disorders 11.5
2 cortical dysplasia, complex, with other brain malformations 7 11.1

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus

Head And Neck Head:
microcephaly (in some patients)

Neurologic Central Nervous System:
spasticity
lissencephaly
agenesis of the corpus callosum
delayed psychomotor development
mental retardation, mild to severe
more

Clinical features from OMIM:

614039

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 1:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 nystagmus 32 HP:0000639
3 seizures 32 occasional (7.5%) HP:0001250
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 strabismus 32 HP:0000486
8 intellectual disability, moderate 32 HP:0002342
9 polymicrogyria 32 HP:0002126
10 lissencephaly 32 HP:0001339
11 hypoplasia of the corpus callosum 32 HP:0002079
12 cortical dysplasia 32 HP:0002539
13 muscular hypotonia of the trunk 32 HP:0008936
14 hypoplasia of the brainstem 32 HP:0002365

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 1:


muscle spasticity

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Cochrane evidence based reviews: malformations of cortical development, group ii

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 1:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 1 29 TUBB3

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 1

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 1:

41
Brain

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 1

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 1:

75
# Symbol AA change Variation ID SNP ID
1 TUBB3 p.Thr178Met VAR_066206 rs747480526
2 TUBB3 p.Glu205Lys VAR_066207 rs878853257
3 TUBB3 p.Ala302Val VAR_066208 rs878853258
4 TUBB3 p.Met323Val VAR_066209 rs878853256

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 1:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB3 NM_006086.3(TUBB3): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs267607165 GRCh37 Chromosome 16, 90002087: 90002087
2 TUBB3 NM_006086.3(TUBB3): c.1228G> A (p.Glu410Lys) single nucleotide variant Pathogenic rs267607165 GRCh38 Chromosome 16, 89935679: 89935679
3 TUBB3 NM_001197181.1(TUBB3): c.751A> G (p.Met251Val) single nucleotide variant Pathogenic rs878853256 GRCh38 Chromosome 16, 89935418: 89935418
4 TUBB3 NM_001197181.1(TUBB3): c.751A> G (p.Met251Val) single nucleotide variant Pathogenic rs878853256 GRCh37 Chromosome 16, 90001826: 90001826
5 TUBB3 NM_006086.3(TUBB3): c.613G> A (p.Glu205Lys) single nucleotide variant Pathogenic rs878853257 GRCh37 Chromosome 16, 90001472: 90001472
6 TUBB3 NM_006086.3(TUBB3): c.613G> A (p.Glu205Lys) single nucleotide variant Pathogenic rs878853257 GRCh38 Chromosome 16, 89935064: 89935064
7 TUBB3 NM_001197181.1(TUBB3): c.689C> T (p.Ala230Val) single nucleotide variant Pathogenic rs878853258 GRCh37 Chromosome 16, 90001764: 90001764
8 TUBB3 NM_001197181.1(TUBB3): c.689C> T (p.Ala230Val) single nucleotide variant Pathogenic rs878853258 GRCh38 Chromosome 16, 89935356: 89935356
9 TUBB3 NM_006086.3(TUBB3): c.167-6C> T single nucleotide variant Uncertain significance rs144873806 GRCh37 Chromosome 16, 89999870: 89999870
10 TUBB3 NM_006086.3(TUBB3): c.167-6C> T single nucleotide variant Uncertain significance rs144873806 GRCh38 Chromosome 16, 89933462: 89933462
11 TUBB3 NM_006086.3(TUBB3): c.292G> A (p.Gly98Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587784505 GRCh37 Chromosome 16, 90001151: 90001151
12 TUBB3 NM_006086.3(TUBB3): c.292G> A (p.Gly98Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587784505 GRCh38 Chromosome 16, 89934743: 89934743
13 TUBB3 NM_006086.3(TUBB3): c.728C> T (p.Pro243Leu) single nucleotide variant Uncertain significance rs587784506 GRCh37 Chromosome 16, 90001587: 90001587
14 TUBB3 NM_006086.3(TUBB3): c.728C> T (p.Pro243Leu) single nucleotide variant Uncertain significance rs587784506 GRCh38 Chromosome 16, 89935179: 89935179
15 TUBB3 NM_006086.3(TUBB3): c.740A> G (p.Asn247Ser) single nucleotide variant Uncertain significance rs587784507 GRCh37 Chromosome 16, 90001599: 90001599
16 TUBB3 NM_006086.3(TUBB3): c.740A> G (p.Asn247Ser) single nucleotide variant Uncertain significance rs587784507 GRCh38 Chromosome 16, 89935191: 89935191
17 TUBB3 NM_006086.3(TUBB3): c.993G> A (p.Leu331=) single nucleotide variant Uncertain significance rs61743716 GRCh37 Chromosome 16, 90001852: 90001852
18 TUBB3 NM_006086.3(TUBB3): c.993G> A (p.Leu331=) single nucleotide variant Uncertain significance rs61743716 GRCh38 Chromosome 16, 89935444: 89935444
19 TUBB3 NM_006086.3(TUBB3): c.1170G> A (p.Arg390=) single nucleotide variant Uncertain significance rs587784503 GRCh37 Chromosome 16, 90002029: 90002029
20 TUBB3 NM_006086.3(TUBB3): c.1170G> A (p.Arg390=) single nucleotide variant Uncertain significance rs587784503 GRCh38 Chromosome 16, 89935621: 89935621
21 TUBB3 NM_001197181.1(TUBB3): c.946A> G (p.Met316Val) single nucleotide variant Pathogenic rs878853279 GRCh37 Chromosome 16, 90002021: 90002021
22 TUBB3 NM_001197181.1(TUBB3): c.946A> G (p.Met316Val) single nucleotide variant Pathogenic rs878853279 GRCh38 Chromosome 16, 89935613: 89935613
23 TUBB3 NM_006086.3(TUBB3): c.533C> T (p.Thr178Met) single nucleotide variant Conflicting interpretations of pathogenicity rs747480526 GRCh37 Chromosome 16, 90001392: 90001392
24 TUBB3 NM_006086.3(TUBB3): c.533C> T (p.Thr178Met) single nucleotide variant Conflicting interpretations of pathogenicity rs747480526 GRCh38 Chromosome 16, 89934984: 89934984
25 TUBB3 NM_006086.3(TUBB3): c.1200C> T (p.Gly400=) single nucleotide variant Uncertain significance rs144689076 GRCh38 Chromosome 16, 89935651: 89935651
26 TUBB3 NM_006086.3(TUBB3): c.1200C> T (p.Gly400=) single nucleotide variant Uncertain significance rs144689076 GRCh37 Chromosome 16, 90002059: 90002059
27 TUBB3 NM_006086.3(TUBB3): c.982G> A (p.Glu328Lys) single nucleotide variant Likely pathogenic rs1057518686 GRCh38 Chromosome 16, 89935433: 89935433
28 TUBB3 NM_006086.3(TUBB3): c.982G> A (p.Glu328Lys) single nucleotide variant Likely pathogenic rs1057518686 GRCh37 Chromosome 16, 90001841: 90001841
29 TUBB3 NM_006086.3(TUBB3): c.136C> T (p.Arg46Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 89999057: 89999057
30 TUBB3 NM_006086.3(TUBB3): c.136C> T (p.Arg46Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 89932649: 89932649

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 1.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 1

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 1

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 1

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