CDCBM7
MCID: CRT081
MIFTS: 31

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental 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 56 73
Polymicrogyria, Symmetric or Asymmetric 56 73 13 71
Cdcbm7 56 12 73
Complex Cortical Dysplasia with Other Brain Malformations 7 12 15
Polymicrogyria Due to Tubb2b Mutation 12 58
Pmgysa 56 73
Dysplasia, Cortical, Complex, with Other Brain Malformations, Type 7 39
Polymicrogyria, Symmetric or Asymmetric; Pmgysa 56

Characteristics:

Orphanet epidemiological data:

58
polymicrogyria due to tubb2b mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cortical dysplasia, complex, with other brain malformations 7:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

OMIM : 56 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, is also known as polymicrogyria, symmetric or asymmetric, 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 cognitive impairment and cortical dysplasia

Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has material basis in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.

UniProtKB/Swiss-Prot : 73 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.

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

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

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
2 cortical dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002539
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
7 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
8 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
9 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
10 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
11 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
12 gray matter heterotopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002282
13 hemianopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012377
14 abnormal temper tantrums 58 31 occasional (7.5%) Occasional (29-5%) HP:0025160
15 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
16 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
17 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
18 abnormal caudate nucleus morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002339
19 oromotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007301
20 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
21 frontoparietal polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0007095
22 dysgenesis of the basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0025102
23 cavum septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002389
24 limited extraocular movements 31 occasional (7.5%) HP:0007941
25 congenital fibrosis of extraocular muscles 31 occasional (7.5%) HP:0001491
26 agenesis of corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0001274
27 schizencephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0010636
28 seizures 58 Occasional (29-5%)
29 specific learning disability 31 HP:0001328
30 motor delay 31 HP:0001270
31 abnormality of the eye 31 HP:0000478
32 polymicrogyria 58 Very frequent (99-80%)
33 cerebellar hypoplasia 31 HP:0001321
34 lissencephaly 58 Very rare (<4-1%)
35 abnormality of brainstem morphology 58 Occasional (29-5%)
36 drooling 31 HP:0002307
37 abnormal corpus callosum morphology 58 Occasional (29-5%)
38 unilateral polymicrogyria 31 HP:0006927
39 seizure 31 HP:0001250
40 frontoparietal cortical dysplasia 31 HP:0006930

Symptoms via clinical synopsis from OMIM:

56
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

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

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:

40
Brain, Cortex, Cerebellum, Eye, Caudate Nucleus, Pons

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

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

(show all 11)
# Title Authors PMID Year
1
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. 6 56
26732629 2016
2
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 56 6
25059107 2014
3
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 56 6
23001566 2012
4
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. 6 56
22333901 2012
5
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. 6 56
19465910 2009
6
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. 56 6
11425694 2001
7
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. 56
17036343 2006
8
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. 56
16401865 2006
9
Congenital Fibrosis of the Extraocular Muscles 6
20301522 2004
10
Focal polymicrogyria in mother and son. 56
10891642 2000
11
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings. 61
32281916 2020

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

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

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB2B NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro)SNV Pathogenic 426 rs137853194 6:3225809-3225809 6:3225575-3225575
2 TUBB2B NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)SNV Pathogenic 427 rs137853195 6:3225640-3225640 6:3225406-3225406
3 TUBB2B NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)SNV Pathogenic 428 rs137853196 6:3225530-3225530 6:3225296-3225296
4 TUBB2B NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn)SNV Pathogenic 39720 rs397514567 6:3225074-3225074 6:3224840-3224840
5 TUBB2B NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)SNV Pathogenic 88897 rs398122369 6:3225062-3225062 6:3224828-3224828
6 TUBB2B NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe)SNV Pathogenic 236255 rs878853284 6:3225607-3225607 6:3225373-3225373
7 TUBB2B NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)SNV Pathogenic/Likely pathogenic 212497 rs797046075 6:3226031-3226031 6:3225797-3225797
8 TUBB2B NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro)SNV Likely pathogenic 39722 rs397514569 6:3225973-3225973 6:3225739-3225739
9 TUBB2B NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)SNV Likely pathogenic 160177 rs587784498 6:3225184-3225184 6:3224950-3224950
10 TUBB2B NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)SNV Likely pathogenic 160187 rs587784502 6:3225358-3225358 6:3225124-3225124
11 TUBB2B NM_178012.5(TUBB2B):c.33G>C (p.Gln11His)SNV Likely pathogenic 431080 rs1135401758 6:3227745-3227745 6:3227511-3227511
12 TUBB2B NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)SNV Likely pathogenic 437125 rs1554126886 6:3225452-3225452 6:3225218-3225218
13 TUBB2B NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)SNV Likely pathogenic 437128 rs1554126925 6:3225808-3225808 6:3225574-3225574
14 TUBB2B NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)SNV Likely pathogenic 692087 6:3225253-3225253 6:3225019-3225019
15 TUBB2B NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe)SNV Likely pathogenic 864868 6:3225721-3225721 6:3225487-3225487
16 TUBB2B NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)SNV Conflicting interpretations of pathogenicity 39721 rs397514568 6:3225556-3225556 6:3225322-3225322
17 TUBB2B NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val)SNV Conflicting interpretations of pathogenicity 381699 rs777598117 6:3225580-3225580 6:3225346-3225346
18 TUBB2B NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=)SNV Uncertain significance 160178 rs17145779 6:3225075-3225075 6:3224841-3224841
19 TUBB2B NM_178012.5(TUBB2B):c.498C>T (p.Thr166=)SNV Uncertain significance 160181 rs587784499 6:3225825-3225825 6:3225591-3225591
20 TUBB2B NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe)SNV Uncertain significance 160179 rs76191712 6:3226835-3226835 6:3226601-3226601
21 TUBB2B NM_178012.5(TUBB2B):c.111T>C (p.His37=)SNV Uncertain significance 160176 rs11550264 6:3226850-3226850 6:3226616-3226616
22 TUBB2B NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser)SNV Uncertain significance 160186 rs587784501 6:3225464-3225464 6:3225230-3225230
23 TUBB2B NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys)SNV Uncertain significance 426326 rs1085307566 6:3227735-3227735 6:3227501-3227501
24 TUBB2B NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)SNV Uncertain significance 800842 6:3227774-3227774 6:3227540-3227540
25 TUBB2B NM_178012.5(TUBB2B):c.728C>T (p.Pro243Leu)SNV Uncertain significance 495257 rs1554126902 6:3225595-3225595 6:3225361-3225361
26 TUBB2B NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr)SNV Uncertain significance 560248 rs1561826815 6:3225832-3225832 6:3225598-3225598
27 TUBB2B NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)SNV Likely benign 160182 rs146544321 6:3225770-3225770 6:3225536-3225536

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

73
# 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.Cys239Phe VAR_078187 rs878853284
8 TUBB2B p.Asn256Ser VAR_078188 rs397514568
9 TUBB2B p.Asp417Asn VAR_078190 rs397514567
10 TUBB2B p.Glu421Lys VAR_078191 rs398122369

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

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