CDCBM7
MCID: CRT081
MIFTS: 36

Cortical Dysplasia, Complex, with Other Brain Malformations 7 (CDCBM7)

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

Aliases & Classifications for Cortical Dysplasia, Complex, with Other Brain Malformations 7

MalaCards integrated aliases for Cortical Dysplasia, Complex, with Other Brain Malformations 7:

Name: Cortical Dysplasia, Complex, with Other Brain Malformations 7 57 75
Polymicrogyria, Symmetric or Asymmetric 57 75 13 73
Cdcbm7 57 12 75
Polymicrogyria Due to Tubb2b Mutation 12 59
Pmgysa 57 75
Dysplasia, Cortical, Complex, with Other Brain Malformations, Type 7 40
Complex Cortical Dysplasia with Other Brain Malformations 7 12
Polymicrogyria, Symmetric or Asymmetric; Pmgysa 57
Malformations of Cortical Development 44

Characteristics:

Orphanet epidemiological data:

59
polymicrogyria due to tubb2b mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable severity
may result in death in utero in severe cases


HPO:

32
cortical dysplasia, complex, with other brain malformations 7:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Cortical Dysplasia, Complex, with Other Brain Malformations 7

OMIM : 57 Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). (610031)

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 7, also known as polymicrogyria, symmetric or asymmetric, is related to cortical dysplasia, complex, with other brain malformations 1 and cortical malformations, occipital, and has symptoms including seizures An important gene associated with Cortical Dysplasia, Complex, with Other Brain Malformations 7 is TUBB2B (Tubulin Beta 2B Class IIb). Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are agenesis of corpus callosum and intellectual disability

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations characterized by autosomal dominant inheritance of abnromalities in coritcal brain development that has material basis in heterozygous mutation in the TUBB2B gene on chromosome 6p25.

UniProtKB/Swiss-Prot : 75 Cortical dysplasia, complex, with other brain malformations 7: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.

Related Diseases for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cortical dysplasia, complex, with other brain malformations 1 11.8
2 cortical malformations, occipital 11.3
3 neuronal migration disorders 11.3
4 microlissencephaly 11.3
5 focal cortical dysplasia, type ii 11.3
6 polymicrogyria, bilateral perisylvian, x-linked 11.0
7 polymicrogyria, bilateral frontoparietal 11.0
8 mental retardation, autosomal dominant 6, with or without seizures 11.0
9 cortical dysplasia, complex, with other brain malformations 2 11.0
10 cortical dysplasia, complex, with other brain malformations 3 11.0
11 cortical dysplasia, complex, with other brain malformations 4 11.0
12 cortical dysplasia, complex, with other brain malformations 6 11.0
13 epileptic encephalopathy, early infantile, 27 11.0
14 lissencephaly 6 with microcephaly 11.0
15 continuous spike-wave during slow sleep syndrome 11.0
16 epilepsy 10.3
17 tuberous sclerosis 9.9
18 polymicrogyria 9.9
19 hypertelorism 9.8
20 lipomatosis, multiple 9.8
21 septooptic dysplasia 9.8
22 tuberous sclerosis 1 9.8
23 epilepsy, idiopathic generalized 10 9.8
24 hereditary hemorrhagic telangiectasia 9.8
25 spinal muscular atrophy 9.8
26 lissencephaly 9.8
27 periventricular nodular heterotopia 9.8
28 pleomorphic lipoma 9.8
29 microcephaly 9.8
30 status epilepticus 9.8
31 focal epilepsy 9.8
32 infantile epileptic encephalopathy 9.8
33 muscular atrophy 9.8
34 congenital cytomegalovirus 9.8
35 cytomegalovirus infection 9.8
36 encephalopathy 9.8

Graphical network of the top 20 diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 7:



Diseases related to Cortical Dysplasia, Complex, with Other Brain Malformations 7

Symptoms & Phenotypes for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
pachygyria
lissencephaly
delayed motor development
agenesis of the corpus callosum
more
Head And Neck Mouth:
sialorrhea
oromotor dyspraxia

Head And Neck Head:
microcephaly

Head And Neck Eyes:
contralateral hemianopsia (1 family)
congenital fibrosis of the extraocular muscles (1 family)
limited extraocular movements (1 family)


Clinical features from OMIM:

610031

Human phenotypes related to Cortical Dysplasia, Complex, with Other Brain Malformations 7:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 abnormality of the eye 32 HP:0000478
7 specific learning disability 32 HP:0001328
8 motor delay 32 HP:0001270
9 cerebellar hypoplasia 32 HP:0001321
10 pachygyria 32 HP:0001302
11 hypoplasia of the corpus callosum 32 HP:0002079
12 hemiparesis 32 HP:0001269
13 drooling 32 HP:0002307
14 limited extraocular movements 32 occasional (7.5%) HP:0007941
15 congenital fibrosis of extraocular muscles 32 occasional (7.5%) HP:0001491
16 unilateral polymicrogyria 32 HP:0006927
17 frontoparietal cortical dysplasia 32 HP:0006930

UMLS symptoms related to Cortical Dysplasia, Complex, with Other Brain Malformations 7:


seizures

Drugs & Therapeutics for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Search Clinical Trials , NIH Clinical Center for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Cochrane evidence based reviews: malformations of cortical development

Genetic Tests for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Anatomical Context for Cortical Dysplasia, Complex, with Other Brain Malformations 7

MalaCards organs/tissues related to Cortical Dysplasia, Complex, with Other Brain Malformations 7:

41
Brain, Cortex, Cerebellum, Eye

Publications for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Articles related to Cortical Dysplasia, Complex, with Other Brain Malformations 7:

(show all 40)
# Title Authors Year
1
Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery. ( 30485578 )
2018
2
Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development. ( 29246093 )
2018
3
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. ( 28193117 )
2017
4
Mutations of KIF5C cause a neurodevelopmental disorder of infantile- onset epilepsy, absent language, and distinctive malformations of cortical development. ( 29048727 )
2017
5
The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population. ( 28059706 )
2016
6
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. ( 26639658 )
2016
7
Early resective surgery causes favorable seizure outcome in malformations of cortical development. ( 27156173 )
2016
8
Rats with Malformations of Cortical Development Exhibit Decreased Length of AIS and Hypersensitivity to Pilocarpine-Induced Status Epilepticus. ( 27286680 )
2016
9
Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series. ( 26808679 )
2016
10
mTOR signaling in epilepsy: insights from malformations of cortical development. ( 25833943 )
2015
11
An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. ( 26523971 )
2015
12
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. ( 25059107 )
2014
13
Co-occurring malformations of cortical development and SCN1A gene mutations. ( 24902755 )
2014
14
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. ( 23603762 )
2013
15
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases. ( 24256262 )
2013
16
mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis. ( 23728790 )
2013
17
Malformations of cortical development. ( 22497611 )
2012
18
Immunohistochemical expression of fibroblast growth factor-2 in developing human cerebrum and epilepsy-associated malformations of cortical development. ( 21382096 )
2011
19
Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection. ( 21648339 )
2011
20
Expression patterns of AMOG in developing human cortex and malformations of cortical development. ( 20656459 )
2010
21
Malformations of cortical development in patients with midline facial defects and ocular hypertelorism. ( 20590457 )
2010
22
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain. ( 19536565 )
2009
23
DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray. ( 19167192 )
2009
24
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. ( 17727667 )
2008
25
Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs). ( 18179408 )
2008
26
Focal cortical dysplasia type II (malformations of cortical development) aberrantly expresses apoptotic proteins. ( 18594472 )
2008
27
Differential expression patterns of chloride transporters, Na+-K+-2Cl--cotransporter and K+-Cl--cotransporter, in epilepsy-associated malformations of cortical development. ( 17207578 )
2007
28
Genetic malformations of cortical development. ( 16724181 )
2006
29
The IL-1beta system in epilepsy-associated malformations of cortical development. ( 16860990 )
2006
30
NMDA receptor composition differs among anatomically diverse malformations of cortical development. ( 16957582 )
2006
31
Clinical and electroencephalographic features of infantile spasms associated with malformations of cortical development. ( 16357497 )
2006
32
Determinants of drug brain uptake in a rat model of seizure-associated malformations of cortical development. ( 17027274 )
2006
33
Expression and cellular distribution of high- and low-affinity neurotrophin receptors in malformations of cortical development. ( 15375667 )
2004
34
Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. ( 12117363 )
2002
35
Aberrant neural circuits in malformations of cortical development and focal epilepsy. ( 10932280 )
2000
36
Septo-optic dysplasia plus: a spectrum of malformations of cortical development. ( 10762523 )
2000
37
Surgery for malformations of cortical development causing epilepsy. ( 10825348 )
2000
38
Familial epilepsy with unilateral and bilateral malformations of cortical development. ( 9924901 )
1999
39
Cortical grey matter and benzodiazepine receptors in malformations of cortical development. A voxel-based comparison of structural and functional imaging data. ( 9397014 )
1997
40
Lissencephaly and other malformations of cortical development: 1995 update. ( 7477752 )
1995

Variations for Cortical Dysplasia, Complex, with Other Brain Malformations 7

UniProtKB/Swiss-Prot genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 7:

75
# Symbol AA change Variation ID SNP ID
1 TUBB2B p.Ser172Pro VAR_063389 rs137853194
2 TUBB2B p.Ile210Thr VAR_063391
3 TUBB2B p.Leu228Pro VAR_063392 rs137853195
4 TUBB2B p.Phe265Leu VAR_063393 rs137853196
5 TUBB2B p.Thr312Met VAR_063394
6 TUBB2B p.Leu117Pro VAR_078186 rs397514569
7 TUBB2B p.Asn256Ser VAR_078188 rs397514568
8 TUBB2B p.Asp417Asn VAR_078190 rs397514567
9 TUBB2B p.Glu421Lys VAR_078191 rs398122369

ClinVar genetic disease variations for Cortical Dysplasia, Complex, with Other Brain Malformations 7:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB2B NM_178012.4(TUBB2B): c.514T> C (p.Ser172Pro) single nucleotide variant Pathogenic rs137853194 GRCh37 Chromosome 6, 3225809: 3225809
2 TUBB2B NM_178012.4(TUBB2B): c.514T> C (p.Ser172Pro) single nucleotide variant Pathogenic rs137853194 GRCh38 Chromosome 6, 3225575: 3225575
3 TUBB2B NM_178012.4(TUBB2B): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs137853195 GRCh37 Chromosome 6, 3225640: 3225640
4 TUBB2B NM_178012.4(TUBB2B): c.683T> C (p.Leu228Pro) single nucleotide variant Pathogenic rs137853195 GRCh38 Chromosome 6, 3225406: 3225406
5 TUBB2B NM_178012.4(TUBB2B): c.793T> C (p.Phe265Leu) single nucleotide variant Pathogenic rs137853196 GRCh37 Chromosome 6, 3225530: 3225530
6 TUBB2B NM_178012.4(TUBB2B): c.793T> C (p.Phe265Leu) single nucleotide variant Pathogenic rs137853196 GRCh38 Chromosome 6, 3225296: 3225296
7 TUBB2B NM_178012.4(TUBB2B): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs397514567 GRCh37 Chromosome 6, 3225074: 3225074
8 TUBB2B NM_178012.4(TUBB2B): c.1249G> A (p.Asp417Asn) single nucleotide variant Pathogenic rs397514567 GRCh38 Chromosome 6, 3224840: 3224840
9 TUBB2B NM_178012.4(TUBB2B): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs397514568 GRCh37 Chromosome 6, 3225556: 3225556
10 TUBB2B NM_178012.4(TUBB2B): c.767A> G (p.Asn256Ser) single nucleotide variant Pathogenic rs397514568 GRCh38 Chromosome 6, 3225322: 3225322
11 TUBB2B NM_178012.4(TUBB2B): c.350T> C (p.Leu117Pro) single nucleotide variant Likely pathogenic rs397514569 GRCh37 Chromosome 6, 3225973: 3225973
12 TUBB2B NM_178012.4(TUBB2B): c.350T> C (p.Leu117Pro) single nucleotide variant Likely pathogenic rs397514569 GRCh38 Chromosome 6, 3225739: 3225739
13 TUBB2B NM_178012.4(TUBB2B): c.1261G> A (p.Glu421Lys) single nucleotide variant Pathogenic rs398122369 GRCh37 Chromosome 6, 3225062: 3225062
14 TUBB2B NM_178012.4(TUBB2B): c.1261G> A (p.Glu421Lys) single nucleotide variant Pathogenic rs398122369 GRCh38 Chromosome 6, 3224828: 3224828
15 TUBB2B NM_178012.4(TUBB2B): c.1248C> T (p.Asn416=) single nucleotide variant Uncertain significance rs17145779 GRCh37 Chromosome 6, 3225075: 3225075
16 TUBB2B NM_178012.4(TUBB2B): c.1248C> T (p.Asn416=) single nucleotide variant Uncertain significance rs17145779 GRCh38 Chromosome 6, 3224841: 3224841
17 TUBB2B NM_178012.4(TUBB2B): c.1139G> T (p.Arg380Leu) single nucleotide variant Likely pathogenic rs587784498 GRCh37 Chromosome 6, 3225184: 3225184
18 TUBB2B NM_178012.4(TUBB2B): c.1139G> T (p.Arg380Leu) single nucleotide variant Likely pathogenic rs587784498 GRCh38 Chromosome 6, 3224950: 3224950
19 TUBB2B NM_178012.4(TUBB2B): c.965C> T (p.Ser322Phe) single nucleotide variant Likely pathogenic rs587784502 GRCh37 Chromosome 6, 3225358: 3225358
20 TUBB2B NM_178012.4(TUBB2B): c.965C> T (p.Ser322Phe) single nucleotide variant Likely pathogenic rs587784502 GRCh38 Chromosome 6, 3225124: 3225124
21 TUBB2B NM_178012.4(TUBB2B): c.859C> T (p.Pro287Ser) single nucleotide variant Uncertain significance rs587784501 GRCh37 Chromosome 6, 3225464: 3225464
22 TUBB2B NM_178012.4(TUBB2B): c.859C> T (p.Pro287Ser) single nucleotide variant Uncertain significance rs587784501 GRCh38 Chromosome 6, 3225230: 3225230
23 TUBB2B NM_178012.4(TUBB2B): c.498C> T (p.Thr166=) single nucleotide variant Uncertain significance rs587784499 GRCh37 Chromosome 6, 3225825: 3225825
24 TUBB2B NM_178012.4(TUBB2B): c.498C> T (p.Thr166=) single nucleotide variant Uncertain significance rs587784499 GRCh38 Chromosome 6, 3225591: 3225591
25 TUBB2B NM_178012.4(TUBB2B): c.126G> T (p.Leu42Phe) single nucleotide variant Uncertain significance rs76191712 GRCh37 Chromosome 6, 3226835: 3226835
26 TUBB2B NM_178012.4(TUBB2B): c.126G> T (p.Leu42Phe) single nucleotide variant Uncertain significance rs76191712 GRCh38 Chromosome 6, 3226601: 3226601
27 TUBB2B NM_178012.4(TUBB2B): c.111T> C (p.His37=) single nucleotide variant Uncertain significance rs11550264 GRCh37 Chromosome 6, 3226850: 3226850
28 TUBB2B NM_178012.4(TUBB2B): c.111T> C (p.His37=) single nucleotide variant Uncertain significance rs11550264 GRCh38 Chromosome 6, 3226616: 3226616
29 TUBB2B NM_178012.4(TUBB2B): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797046075 GRCh38 Chromosome 6, 3225797: 3225797
30 TUBB2B NM_178012.4(TUBB2B): c.292G> A (p.Gly98Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797046075 GRCh37 Chromosome 6, 3226031: 3226031
31 TUBB2B NM_178012.4(TUBB2B): c.716G> T (p.Cys239Phe) single nucleotide variant Pathogenic rs878853284 GRCh37 Chromosome 6, 3225607: 3225607
32 TUBB2B NM_178012.4(TUBB2B): c.716G> T (p.Cys239Phe) single nucleotide variant Pathogenic rs878853284 GRCh38 Chromosome 6, 3225373: 3225373
33 TUBB2B NM_178012.4(TUBB2B): c.43C> A (p.Gln15Lys) single nucleotide variant Uncertain significance rs1085307566 GRCh37 Chromosome 6, 3227735: 3227735
34 TUBB2B NM_178012.4(TUBB2B): c.43C> A (p.Gln15Lys) single nucleotide variant Uncertain significance rs1085307566 GRCh38 Chromosome 6, 3227501: 3227501
35 TUBB2B NM_178012.4(TUBB2B): c.33G> C (p.Gln11His) single nucleotide variant Likely pathogenic rs1135401758 GRCh37 Chromosome 6, 3227745: 3227745
36 TUBB2B NM_178012.4(TUBB2B): c.33G> C (p.Gln11His) single nucleotide variant Likely pathogenic rs1135401758 GRCh38 Chromosome 6, 3227511: 3227511
37 TUBB2B NM_178012.4(TUBB2B): c.871C> A (p.Gln291Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 3225452: 3225452
38 TUBB2B NM_178012.4(TUBB2B): c.871C> A (p.Gln291Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 3225218: 3225218
39 TUBB2B NM_178012.4(TUBB2B): c.515C> T (p.Ser172Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 3225808: 3225808
40 TUBB2B NM_178012.4(TUBB2B): c.515C> T (p.Ser172Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 3225574: 3225574
41 TUBB2B NM_178012.4(TUBB2B): c.728C> T (p.Pro243Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 3225595: 3225595
42 TUBB2B NM_178012.4(TUBB2B): c.728C> T (p.Pro243Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 3225361: 3225361
43 TUBB2B NM_178012.4(TUBB2B): c.491T> C (p.Met164Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 3225832: 3225832
44 TUBB2B NM_178012.4(TUBB2B): c.491T> C (p.Met164Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 3225598: 3225598

Expression for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Search GEO for disease gene expression data for Cortical Dysplasia, Complex, with Other Brain Malformations 7.

Pathways for Cortical Dysplasia, Complex, with Other Brain Malformations 7

GO Terms for Cortical Dysplasia, Complex, with Other Brain Malformations 7

Sources for Cortical Dysplasia, Complex, with Other Brain Malformations 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....