CDCBM9
MCID: CRT087
MIFTS: 21

Cortical Dysplasia, Complex, with Other Brain Malformations 9 (CDCBM9)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 9

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 9:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 9 56 73 29 6
Cdcbm9 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in early childhood may occur
onset soon after birth or in early infancy
three consanguineous middle eastern families have been reported (last curated november 2018)


HPO:

31
cortical dysplasia, complex, with other brain malformations 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 9

OMIM : 56 Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). (618174)

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 9, is also known as cdcbm9. An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 9 is CTNNA2 (Catenin Alpha 2). Affiliated tissues include brain and cortex, and related phenotypes are hypoplasia of the brainstem and eeg abnormality

UniProtKB/Swiss-Prot : 73 Cortical dysplasia, complex, with other brain malformations 9: An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior- anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia.

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 9:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the brainstem 31 very rare (1%) HP:0002365
2 eeg abnormality 31 HP:0002353
3 spastic tetraplegia 31 HP:0002510
4 intellectual disability, severe 31 HP:0010864
5 ataxia 31 HP:0001251
6 absent speech 31 HP:0001344
7 hyperreflexia 31 HP:0001347
8 severe global developmental delay 31 HP:0011344
9 cerebellar hypoplasia 31 HP:0001321
10 pachygyria 31 HP:0001302
11 hypoplasia of the corpus callosum 31 HP:0002079
12 postnatal microcephaly 31 HP:0005484
13 generalized hypotonia 31 HP:0001290
14 inability to walk 31 HP:0002540
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spastic tetraplegia
intellectual disability, severe
ataxia
absent speech
hyperreflexia
more
Head And Neck Head:
microcephaly, acquired (up to -5 sd)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

618174

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 9:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 9 29 CTNNA2

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 9

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 9:

40
Brain, Cortex

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 9:

# Title Authors PMID Year
1
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. 6 56
30013181 2018

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 9

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 9:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNNA2 NM_004389.3(CTNNA2):c.2644C>T (p.Arg882Ter)SNV Pathogenic 590259 rs760139097 2:80874923-80874923 2:80647798-80647798
2 CTNNA2 NM_001164883.1(CTNNA2):c.2295+4050C>TSNV Pathogenic 590260 rs1413537928 2:80835354-80835354 2:80608229-80608229
3 CTNNA2 NM_004389.3(CTNNA2):c.1480C>T (p.Arg494Ter)SNV Pathogenic 590261 rs778294237 2:80773128-80773128 2:80546003-80546003

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 9.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 9

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 9

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 9

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....