CDCBM2
MCID: CRT067
MIFTS: 23

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 57 74 29 6 72
Cdcbm2 57 12 74
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 2 40
Complex Cortical Dysplasia with Other Brain Malformations 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in utero or at birth


HPO:

32
cortical dysplasia, complex, with other brain malformations 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0090133
MeSH 44 D054081
UMLS 72 C3809013

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

UniProtKB/Swiss-Prot : 74 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 autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23.

More information from OMIM: 615282 PS614039

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 microcephaly 32 HP:0000252
4 spastic tetraplegia 32 HP:0002510
5 absent speech 32 HP:0001344
6 intrauterine growth retardation 32 HP:0001511
7 arthrogryposis multiplex congenita 32 HP:0002804
8 fetal akinesia sequence 32 HP:0001989
9 polymicrogyria 32 HP:0002126
10 hypoplasia of the corpus callosum 32 HP:0002079
11 cortical dysplasia 32 HP:0002539

Symptoms via clinical synopsis from OMIM:

57
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 29 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:

41
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 PMID Year
1
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 8 71
24812067 2014
2
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 8 71
23603762 2013
3
Diagnostic exome sequencing in persons with severe intellectual disability. 8 71
23033978 2012

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIF5C NM_004522.3(KIF5C): c.710A> T (p.Glu237Val) single nucleotide variant Pathogenic rs587777035 2:149803533-149803533 2:148947019-148947019
2 KIF5C NM_004522.3(KIF5C): c.709G> A (p.Glu237Lys) single nucleotide variant Pathogenic rs587777570 2:149803532-149803532 2:148947018-148947018
3 KIF5C NM_004522.3(KIF5C): c.1864A> G (p.Ser622Gly) single nucleotide variant Uncertain significance 2:149847671-149847671 2:148991157-148991157
4 KIF5C NM_004522.3(KIF5C): c.1190C> G (p.Pro397Arg) single nucleotide variant Uncertain significance 2:149829922-149829922 2:148973408-148973408
5 KIF5C NM_004522.3(KIF5C): c.1018G> A (p.Glu340Lys) single nucleotide variant Likely benign 2:149818534-149818534 2:148962020-148962020

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

74
# Symbol AA change Variation ID SNP ID
1 KIF5C p.Glu237Lys VAR_069389 rs587777570
2 KIF5C p.Glu237Val VAR_070574 rs587777035

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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