CDCBM6
MCID: CRT074
MIFTS: 20

Cortical Dysplasia, Complex, with Other Brain Malformations 6 (CDCBM6)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 6

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 6:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 6 57 75 29 6 73
Cdcbm6 57 75
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 6 40
Complex Cortical Dysplasia with Other Brain Malformations 6 12
Cdcbm56 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
three unrelated patients have been reported (last curated april 2014)


HPO:

32
cortical dysplasia, complex, with other brain malformations 6:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 6

UniProtKB/Swiss-Prot : 75 Cortical dysplasia, complex, with other brain malformations 6: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 6, is also known as cdcbm6, and has symptoms including ataxia An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 6 is TUBB (Tubulin Beta Class I). Affiliated tissues include brain, and related phenotypes are ataxia and global developmental delay

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB gene on chromosome 6p21.

Description from OMIM: 615771

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
cerebellar hypoplasia
corpus callosum abnormalities
brainstem hypoplasia
polymicrogyria (1 patient)
more
Head And Neck Head:
microcephaly (-2.5 to -4 sd)

Head And Neck Eyes:
retinal dysplasia (1 patient)
microphthalmia (1 patient)


Clinical features from OMIM:

615771

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 6:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 global developmental delay 32 HP:0001263
3 delayed speech and language development 32 HP:0000750
4 microcephaly 32 HP:0000252
5 cerebellar hypoplasia 32 HP:0001321
6 microphthalmia 32 occasional (7.5%) HP:0000568
7 retinal dysplasia 32 occasional (7.5%) HP:0007973
8 polymicrogyria 32 occasional (7.5%) HP:0002126
9 cortical dysplasia 32 occasional (7.5%) HP:0002539
10 hypoplasia of the brainstem 32 HP:0002365

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 6:


ataxia

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 6:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 6 29 TUBB

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 6

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 6:

41
Brain

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 6

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 6:

75
# Symbol AA change Variation ID SNP ID
1 TUBB p.Met299Val VAR_071763 rs587777355
2 TUBB p.Val353Ile VAR_071764 rs587777356
3 TUBB p.Glu401Lys VAR_071765 rs587777357

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB NM_178014.3(TUBB): c.895A> G (p.Met299Val) single nucleotide variant Pathogenic rs587777355 GRCh37 Chromosome 6, 30691734: 30691734
2 TUBB NM_178014.3(TUBB): c.895A> G (p.Met299Val) single nucleotide variant Pathogenic rs587777355 GRCh38 Chromosome 6, 30723957: 30723957
3 TUBB NM_178014.3(TUBB): c.1057G> A (p.Val353Ile) single nucleotide variant Pathogenic rs587777356 GRCh37 Chromosome 6, 30691896: 30691896
4 TUBB NM_178014.3(TUBB): c.1057G> A (p.Val353Ile) single nucleotide variant Pathogenic rs587777356 GRCh38 Chromosome 6, 30724119: 30724119
5 TUBB NM_178014.3(TUBB): c.1201G> A (p.Glu401Lys) single nucleotide variant Pathogenic rs587777357 GRCh37 Chromosome 6, 30692040: 30692040
6 TUBB NM_178014.3(TUBB): c.1201G> A (p.Glu401Lys) single nucleotide variant Pathogenic rs587777357 GRCh38 Chromosome 6, 30724263: 30724263
7 TUBB NM_178014.3(TUBB): c.662C> T (p.Thr221Ile) single nucleotide variant Pathogenic rs878853162 GRCh37 Chromosome 6, 30691501: 30691501
8 TUBB NM_178014.3(TUBB): c.662C> T (p.Thr221Ile) single nucleotide variant Pathogenic rs878853162 GRCh38 Chromosome 6, 30723724: 30723724
9 TUBB NM_001293212.1(TUBB): c.920C> T (p.Pro307Leu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 6, 30691699: 30691699
10 TUBB NM_001293212.1(TUBB): c.920C> T (p.Pro307Leu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 6, 30723922: 30723922

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 6.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 6

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 6

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 6

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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