CDCBM8
MCID: CRT082
MIFTS: 22

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 58 76
Polymicrogyria with Optic Nerve Hypoplasia 58 60 30 13 6 41
Cdcbm8 58 76
Polymicrogyria, with Optic Nerve Hypoplasia 76

Characteristics:

Orphanet epidemiological data:

60
polymicrogyria with optic nerve hypoplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cortical dysplasia, complex, with other brain malformations 8:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613180
MeSH 45 D054220
UMLS via Orphanet 75 C2750798
Orphanet 60 ORPHA250972
MedGen 43 C2750798

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

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 microcephaly 33 HP:0000252
4 neonatal hypotonia 33 HP:0001319
5 optic nerve hypoplasia 33 HP:0000609
6 intellectual disability, profound 33 HP:0002187
7 hyporeflexia 33 HP:0001265
8 polymicrogyria 33 HP:0002126
9 colpocephaly 33 HP:0030048
10 hypoplasia of the brainstem 33 HP:0002365

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
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 (show all 12)
# 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.967G> A (p.Val323Met) single nucleotide variant Uncertain significance rs151102020 GRCh37 Chromosome 22, 18609712: 18609712
6 TUBA8 NM_018943.2(TUBA8): c.967G> A (p.Val323Met) single nucleotide variant Uncertain significance rs151102020 GRCh38 Chromosome 22, 18126945: 18126945
7 TUBA8 NM_018943.2(TUBA8): c.1117C> T (p.Arg373Trp) single nucleotide variant Uncertain significance rs773537011 GRCh37 Chromosome 22, 18613670: 18613670
8 TUBA8 NM_018943.2(TUBA8): c.1117C> T (p.Arg373Trp) single nucleotide variant Uncertain significance rs773537011 GRCh38 Chromosome 22, 18130903: 18130903
9 TUBA8 NM_018943.2(TUBA8): c.661C> T (p.Arg221Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18609406: 18609406
10 TUBA8 NM_018943.2(TUBA8): c.661C> T (p.Arg221Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18126639: 18126639
11 TUBA8 NM_018943.3(TUBA8): c.728G> A (p.Arg243His) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18609473: 18609473
12 TUBA8 NM_018943.3(TUBA8): c.728G> A (p.Arg243His) single nucleotide variant Uncertain significance GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....