CDCBM8
MCID: CRT082
MIFTS: 27

Cortical Dysplasia, Complex, with Other Brain Malformations 8 (CDCBM8)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 8

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 8:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 8 56 73
Polymicrogyria with Optic Nerve Hypoplasia 56 58 29 13 6
Cdcbm8 56 73
Dysplasia, Cortical, Complex, with Other Brain Malformations, Type 8 39
Polymicrogyria, with Optic Nerve Hypoplasia 73

Characteristics:

Orphanet epidemiological data:

58
polymicrogyria with optic nerve hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
four patients have been reported (as of december 2009)


HPO:

31
cortical dysplasia, complex, with other brain malformations 8:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613180
OMIM Phenotypic Series 56 PS614039
MeSH 43 D054220
UMLS via Orphanet 72 C2750798
Orphanet 58 ORPHA250972
MedGen 41 C2750798

Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 8

UniProtKB/Swiss-Prot : 73 Cortical dysplasia, complex, with other brain malformations 8: A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 8, also known as polymicrogyria with optic nerve hypoplasia, is related to optic nerve hypoplasia, bilateral and lissencephaly 1. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 8 is TUBA8 (Tubulin Alpha 8). Affiliated tissues include brain, cortex and eye, and related phenotypes are neonatal hypotonia and absent speech

More information from OMIM: 613180 PS614039

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Graphical network of the top 20 diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 8:



Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 8

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 8:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
2 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
3 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
4 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
5 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
6 colpocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0030048
7 optic nerve hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000609
8 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
9 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
10 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
11 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
12 dysplastic corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006989
13 global developmental delay 31 HP:0001263
14 seizures 58 Very frequent (99-80%)
15 microcephaly 31 HP:0000252
16 abnormality of the nervous system 58 Very frequent (99-80%)
17 generalized tonic-clonic seizures 58 Frequent (79-30%)
18 intellectual disability, profound 31 HP:0002187
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hyporeflexia
polymicrogyria
colpocephaly
developmental delay, severe
more
Head And Neck Head:
microcephaly (in 1 of 4 patients)

Head And Neck Eyes:
optic nerve hypoplasia

Clinical features from OMIM:

613180

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 8:

# Genetic test Affiliating Genes
1 Polymicrogyria with Optic Nerve Hypoplasia 29 TUBA8

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 8

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 8:

40
Brain, Cortex, Eye

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 8:

# Title Authors PMID Year
1
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. 61 56 6
19896110 2009
2
Tubulinopathies Overview 6
27010057 2016

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 8

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 8:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBA8 NM_018943.3(TUBA8):c.4-21_4-8deldeletion Pathogenic 4782 rs878853254 22:18604222-18604235 22:18121455-18121468
2 TUBA8 NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)SNV Uncertain significance 160175 rs140202346 22:18609703-18609703 22:18126936-18126936
3 TUBA8 NM_018943.3(TUBA8):c.967G>A (p.Val323Met)SNV Uncertain significance 425280 rs151102020 22:18609712-18609712 22:18126945-18126945
4 TUBA8 NM_018943.3(TUBA8):c.1117C>T (p.Arg373Trp)SNV Uncertain significance 448843 rs773537011 22:18613670-18613670 22:18130903-18130903
5 TUBA8 NM_018943.3(TUBA8):c.661C>T (p.Arg221Cys)SNV Uncertain significance 562019 rs140547351 22:18609406-18609406 22:18126639-18126639
6 TUBA8 NM_018943.3(TUBA8):c.728G>A (p.Arg243His)SNV Uncertain significance 592146 rs768178362 22:18609473-18609473 22:18126706-18126706

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 8.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 8

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 8

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 8

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
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