CDCBM6
MCID: CRT074
MIFTS: 25

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 56 73 29 6 71
Complex Cortical Dysplasia with Other Brain Malformations 6 12 15
Cdcbm6 56 73
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 6 39
Cdcbm56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cortical dysplasia, complex, with other brain malformations 6:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0090136
OMIM 56 615771
OMIM Phenotypic Series 56 PS614039
MeSH 43 D054081
UMLS 71 C4014283

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

UniProtKB/Swiss-Prot : 73 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, also known as complex cortical dysplasia with other brain malformations 6, is related to complex cortical dysplasia with other brain malformations, 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 microphthalmia and polymicrogyria

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 class I (TUBB) gene on chromosome 6p21.

More information from OMIM: 615771 PS614039

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

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 polymicrogyria 31 occasional (7.5%) HP:0002126
3 retinal dysplasia 31 occasional (7.5%) HP:0007973
4 cortical dysplasia 31 occasional (7.5%) HP:0002539
5 global developmental delay 31 HP:0001263
6 delayed speech and language development 31 HP:0000750
7 microcephaly 31 HP:0000252
8 ataxia 31 HP:0001251
9 cerebellar hypoplasia 31 HP:0001321
10 hypoplasia of the brainstem 31 HP:0002365

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Brain

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

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

# Title Authors PMID Year
1
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. 56 6
23246003 2012

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB NM_178014.4(TUBB):c.895A>G (p.Met299Val)SNV Pathogenic 127189 rs587777355 6:30691734-30691734 6:30723957-30723957
2 TUBB NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)SNV Pathogenic 127190 rs587777356 6:30691896-30691896 6:30724119-30724119
3 TUBB NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)SNV Pathogenic 127191 rs587777357 6:30692040-30692040 6:30724263-30724263
4 TUBB NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)SNV Pathogenic 235892 rs878853162 6:30691501-30691501 6:30723724-30723724
5 TUBB NM_178014.4(TUBB):c.448C>T (p.Leu150Phe)SNV Likely pathogenic 807517 6:30691287-30691287 6:30723510-30723510
6 TUBB NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)SNV Conflicting interpretations of pathogenicity 438586 rs1554202416 6:30691699-30691699 6:30723922-30723922
7 TUBB NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)SNV Uncertain significance 802193 6:30690794-30690794 6:30723017-30723017

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

73
# 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

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

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
Content
Loading form....