CDCBM2
MCID: CRT067
MIFTS: 24

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 56 73 29 6 71
Cdcbm2 56 12 73
Dysplasia ,cortical, Complex, with Other Brain Malformations, Type 2 39
Complex Cortical Dysplasia with Other Brain Malformations 2 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in utero or at birth


HPO:

31
cortical dysplasia, complex, with other brain malformations 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



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

UniProtKB/Swiss-Prot : 73 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, cortex and eye, 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

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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 global developmental delay 31 HP:0001263
3 intrauterine growth retardation 31 HP:0001511
4 microcephaly 31 HP:0000252
5 arthrogryposis multiplex congenita 31 HP:0002804
6 spastic tetraplegia 31 HP:0002510
7 absent speech 31 HP:0001344
8 fetal akinesia sequence 31 HP:0001989
9 hypoplasia of the corpus callosum 31 HP:0002079
10 polymicrogyria 31 HP:0002126
11 cortical dysplasia 31 HP:0002539

Symptoms via clinical synopsis from OMIM:

56
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:

40
Brain, Cortex, Eye

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. 56 6
24812067 2014
2
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 56 6
23603762 2013
3
Diagnostic exome sequencing in persons with severe intellectual disability. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF5C NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)SNV Pathogenic 65402 rs587777035 2:149803533-149803533 2:148947019-148947019
2 KIF5C NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)SNV Pathogenic 140740 rs587777570 2:149803532-149803532 2:148947018-148947018
3 KIF5C NM_004522.3(KIF5C):c.1864A>G (p.Ser622Gly)SNV Uncertain significance 638267 2:149847671-149847671 2:148991157-148991157
4 KIF5C NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg)SNV Uncertain significance 638380 2:149829922-149829922 2:148973408-148973408
5 KIF5C NM_004522.3(KIF5C):c.1018G>A (p.Glu340Lys)SNV Likely benign 638268 2:149818534-149818534 2:148962020-148962020

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

73
# 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 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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