CDCBM3
MCID: CRT068
MIFTS: 23

Cortical Dysplasia, Complex, with Other Brain Malformations 3 (CDCBM3)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 3

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 3:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 3 56 73 29 6 71
Cdcbm3 56 12 73
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 3 39
Complex Cortical Dysplasia with Other Brain Malformations 3 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients have been reported (last curated september 2013)


HPO:

31
cortical dysplasia, complex, with other brain malformations 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090134
OMIM 56 615411
OMIM Phenotypic Series 56 PS614039
MeSH 43 D054081
UMLS 71 C3809414

Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 3

UniProtKB/Swiss-Prot : 73 Cortical dysplasia, complex, with other brain malformations 3: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset epilepsy, and various malformations of cortical development such as agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 3, is also known as cdcbm3, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 3 is KIF2A (Kinesin Family Member 2A). Affiliated tissues include brain and cortex, and related phenotypes are nystagmus and intrauterine growth retardation

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.

More information from OMIM: 615411 PS614039

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 3:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 spastic tetraplegia 31 HP:0002510
6 pachygyria 31 HP:0001302
7 hypoplasia of the corpus callosum 31 HP:0002079
8 cortical dysplasia 31 HP:0002539
9 agyria 31 HP:0031882
10 seizure 31 HP:0001250
11 subcortical band heterotopia 31 HP:0032409

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spastic tetraplegia
pachygyria
agyria
subcortical band heterotopia
more
Head And Neck Eyes:
nystagmus (1 patient)

Head And Neck Head:
microcephaly

Growth Other:
intrauterine growth retardation (1 patient)

Clinical features from OMIM:

615411

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 3:


seizures

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 3:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 3 29 KIF2A

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 3

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 3:

40
Brain, Cortex

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 3:

# Title Authors PMID Year
1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 56 6
23603762 2013

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 3

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF2A NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)SNV Pathogenic 800959 5:61645896-61645896 5:62350069-62350069
2 KIF2A NM_004520.4(KIF2A):c.961C>G (p.His321Asp)SNV Pathogenic 65400 rs587777033 5:61657157-61657157 5:62361330-62361330
3 KIF2A NM_004520.4(KIF2A):c.950G>A (p.Ser317Asn)SNV Pathogenic 65401 rs587777034 5:61657146-61657146 5:62361319-62361319
4 KIF2A NM_001098511.2(KIF2A):c.959C>T (p.Thr320Ile)SNV Pathogenic/Likely pathogenic 435642 rs1554042050 5:61657155-61657155 5:62361328-62361328
5 KIF2A NM_001098511.2(KIF2A):c.938G>A (p.Gly313Glu)SNV Likely pathogenic 584429 rs1561273261 5:61657134-61657134 5:62361307-62361307
6 KIF2A NM_001098511.2(KIF2A):c.382T>C (p.Ser128Pro)SNV Benign 523636 rs138408434 5:61648462-61648462 5:62352635-62352635

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 3:

73
# Symbol AA change Variation ID SNP ID
1 KIF2A p.Ser317Asn VAR_070575 rs587777034
2 KIF2A p.His321Asp VAR_070576 rs587777033

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 3.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 3

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 3

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 3

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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