CDCBM3
MCID: CRT068
MIFTS: 20

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

Categories: Genetic diseases, Neuronal 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 57 75 29 6 73
Cdcbm3 57 12 75
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 3 40
Complex Cortical Dysplasia with Other Brain Malformations 3 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cortical dysplasia, complex, with other brain malformations 3:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 seizures

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the KIF2A gene on chromosome 5q12.

Description from OMIM: 615411

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 3

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spastic tetraplegia
pachygyria
delayed psychomotor development
thin corpus callosum
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

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 seizures 32 HP:0001250
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 spastic tetraplegia 32 HP:0002510
6 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
7 pachygyria 32 HP:0001302
8 hypoplasia of the corpus callosum 32 HP:0002079
9 heterotopia 32 HP:0002282
10 cortical dysplasia 32 HP:0002539
11 agyria 32 HP:0031882

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:

41
Brain, Cortex

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 KIF2A p.Ser317Asn VAR_070575 rs587777034
2 KIF2A p.His321Asp VAR_070576 rs587777033

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF2A NM_001098511.2(KIF2A): c.961C> G (p.His321Asp) single nucleotide variant Pathogenic rs587777033 GRCh37 Chromosome 5, 61657157: 61657157
2 KIF2A NM_001098511.2(KIF2A): c.961C> G (p.His321Asp) single nucleotide variant Pathogenic rs587777033 GRCh38 Chromosome 5, 62361330: 62361330
3 KIF2A NM_001098511.2(KIF2A): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs587777034 GRCh37 Chromosome 5, 61657146: 61657146
4 KIF2A NM_001098511.2(KIF2A): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs587777034 GRCh38 Chromosome 5, 62361319: 62361319
5 KIF2A NM_001098511.2(KIF2A): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 61657155: 61657155
6 KIF2A NM_001098511.2(KIF2A): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 62361328: 62361328
7 KIF2A NM_001243953.1(KIF2A): c.382T> C (p.Ser128Pro) single nucleotide variant Uncertain significance rs138408434 GRCh38 Chromosome 5, 62352635: 62352635
8 KIF2A NM_001243953.1(KIF2A): c.382T> C (p.Ser128Pro) single nucleotide variant Uncertain significance rs138408434 GRCh37 Chromosome 5, 61648462: 61648462
9 KIF2A NM_001098511.2(KIF2A): c.938G> A (p.Gly313Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 62361307: 62361307
10 KIF2A NM_001098511.2(KIF2A): c.938G> A (p.Gly313Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 61657134: 61657134

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
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10 dbSNP
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17 ExPASy
19 FMA
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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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