CDCBM8
MCID: CRT082
MIFTS: 23

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

Categories: Eye diseases, Fetal diseases, Genetic 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 57 75
Polymicrogyria with Optic Nerve Hypoplasia 57 59 29 13 6 40
Cdcbm8 57 75
Polymicrogyria, with Optic Nerve Hypoplasia 75

Characteristics:

Orphanet epidemiological data:

59
polymicrogyria with optic nerve hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cortical dysplasia, complex, with other brain malformations 8:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613180
Orphanet 59 ORPHA250972
UMLS via Orphanet 74 C2750798
MedGen 42 C2750798
MeSH 44 D054220

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

UniProtKB/Swiss-Prot : 75 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 polymicrogyria. 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 seizures and global developmental delay

Description from OMIM: 613180

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

Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 optic nerve hypoplasia, bilateral 10.1
2 polymicrogyria 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 microcephaly 32 HP:0000252
4 neonatal hypotonia 32 HP:0001319
5 optic nerve hypoplasia 32 HP:0000609
6 intellectual disability, profound 32 HP:0002187
7 hyporeflexia 32 HP:0001265
8 polymicrogyria 32 HP:0002126
9 colpocephaly 32 HP:0030048
10 hypoplasia of the brainstem 32 HP:0002365

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:

41
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 Year
1
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. ( 19896110 )
2009

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 Variation Type Significance SNP ID Assembly Location
1 TUBA8 NM_018943.2(TUBA8): c.4-21_4-8delGTTGCTTCCCTCTC deletion Pathogenic rs878853254 GRCh37 Chromosome 22, 18604225: 18604238
2 TUBA8 NM_018943.2(TUBA8): c.4-21_4-8delGTTGCTTCCCTCTC deletion Pathogenic rs878853254 GRCh38 Chromosome 22, 18121458: 18121471
3 TUBA8 NM_018943.2(TUBA8): c.958C> T (p.Arg320Trp) single nucleotide variant Uncertain significance rs140202346 GRCh37 Chromosome 22, 18609703: 18609703
4 TUBA8 NM_018943.2(TUBA8): c.958C> T (p.Arg320Trp) single nucleotide variant Uncertain significance rs140202346 GRCh38 Chromosome 22, 18126936: 18126936
5 TUBA8 NM_018943.2(TUBA8): c.661C> T (p.Arg221Cys) single nucleotide variant Uncertain significance rs140547351 GRCh37 Chromosome 22, 18609406: 18609406
6 TUBA8 NM_018943.2(TUBA8): c.661C> T (p.Arg221Cys) single nucleotide variant Uncertain significance rs140547351 GRCh38 Chromosome 22, 18126639: 18126639

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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