CDCBM2
MCID: CRT067
MIFTS: 22

Cortical Dysplasia, Complex, with Other Brain Malformations 2 (CDCBM2)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 2

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 2:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 2 58 76 30 6 74
Cdcbm2 58 12 76
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 2 41
Complex Cortical Dysplasia with Other Brain Malformations 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in utero or at birth


HPO:

33
cortical dysplasia, complex, with other brain malformations 2:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 2

UniProtKB/Swiss-Prot : 76 Cortical dysplasia, complex, with other brain malformations 2: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum.

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 2, is also known as cdcbm2, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 2 is KIF5C (Kinesin Family Member 5C). Affiliated tissues include brain and cortex, and related phenotypes are seizures and global developmental delay

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the KIF5C gene on chromosome 2q23.

Description from OMIM: 615282

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 microcephaly 33 HP:0000252
4 spastic tetraplegia 33 HP:0002510
5 absent speech 33 HP:0001344
6 intrauterine growth retardation 33 HP:0001511
7 arthrogryposis multiplex congenita 33 HP:0002804
8 fetal akinesia sequence 33 HP:0001989
9 polymicrogyria 33 HP:0002126
10 hypoplasia of the corpus callosum 33 HP:0002079
11 cortical dysplasia 33 HP:0002539

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
spastic tetraplegia
polymicrogyria
thin corpus callosum
lack of psychomotor development
more
Growth Other:
intrauterine growth retardation (iugr)

Prenatal Manifestations Movement:
fetal akinesia

Head And Neck Head:
microcephaly (-4 sd)

Skeletal:
arthrogryposis

Muscle Soft Tissue:
fetal akinesia

Neurologic Behavioral Psychiatric Manifestations:
stereotypic hand movements
automutilation

Clinical features from OMIM:

615282

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 2:


seizures

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Genetic tests related to Cortical Dysplasia, Complex, with Other Brain Malformations 2:

# Genetic test Affiliating Genes
1 Cortical Dysplasia, Complex, with Other Brain Malformations 2 30 KIF5C

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 2

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 2:

42
Brain, Cortex

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 2:

# Title Authors Year
1
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. ( 24812067 )
2014
2
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. ( 23603762 )
2013
3
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 2

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 2:

76
# Symbol AA change Variation ID SNP ID
1 KIF5C p.Glu237Lys VAR_069389 rs587777570
2 KIF5C p.Glu237Val VAR_070574 rs587777035

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF5C NM_004522.2(KIF5C): c.710A> T (p.Glu237Val) single nucleotide variant Pathogenic rs587777035 GRCh37 Chromosome 2, 149803533: 149803533
2 KIF5C NM_004522.2(KIF5C): c.710A> T (p.Glu237Val) single nucleotide variant Pathogenic rs587777035 GRCh38 Chromosome 2, 148947019: 148947019
3 KIF5C NM_004522.2(KIF5C): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic rs587777570 GRCh38 Chromosome 2, 148947018: 148947018
4 KIF5C NM_004522.2(KIF5C): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic rs587777570 GRCh37 Chromosome 2, 149803532: 149803532

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 2.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 2

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 2

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 2

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
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