BH
MCID: BND018
MIFTS: 53

Band Heterotopia (BH)

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

Aliases & Classifications for Band Heterotopia

MalaCards integrated aliases for Band Heterotopia:

Name: Band Heterotopia 57 12 72 29 6
Subcortical Band Heterotopia 12 20 43 58 29 6 15 70
Subcortical Laminar Heterotopia 12 43 58
Double Cortex Syndrome 12 20 43
Double Cortex 73 20 70
Bh 57 72
Heterotopia, Subcortical Band 43
Band Heterotopia of Brain 72
Heterotopic Cortex 12
Dc Syndrome 43
Heco 12
Sclh 43
Sbh 43
Bhy 17
Dc 20

Characteristics:

Orphanet epidemiological data:

58
subcortical band heterotopia
Inheritance: Autosomal recessive,X-linked recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
may result in early death


HPO:

31
band heterotopia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111169
OMIM® 57 600348
MeSH 44 D054221
NCIt 50 C116933
ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 71 C1848201
Orphanet 58 ORPHA99796
UMLS 70 C1848201 C2931857

Summaries for Band Heterotopia

MedlinePlus Genetics : 43 Subcortical band heterotopia is a condition in which nerve cells (neurons) do not move (migrate) to their proper locations in the fetal brain during early development. (Heterotopia means "out of place.") Normally, the neurons that make up the outer surface of the brain (cerebral cortex) are distributed in a well-organized and multi-layered way. In people with subcortical band heterotopia, some neurons that should be part of the cerebral cortex do not reach it. These neurons stop their migration process in areas of the brain where they are not supposed to be and form band-like clusters of tissue. Since these bands are located beneath the cerebral cortex, they are said to be subcortical. In most cases, the bands are symmetric, which means they occur in the same places on the right and left sides of the brain.The abnormal brain development causes neurological problems in people with subcortical band heterotopia. The signs and symptoms of the condition depend on the size of the bands and the lack of development of the cerebral cortex. The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side of the brain (focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. Subcortical band heterotopia is typically found when brain imaging is done following the onset of seizures, usually in adolescence or early adulthood.

MalaCards based summary : Band Heterotopia, also known as subcortical band heterotopia, is related to lissencephaly 1 and lissencephaly, x-linked, 1. An important gene associated with Band Heterotopia is EML1 (EMAP Like 1), and among its related pathways/superpathways are G-protein signaling G-Protein alpha-i signaling cascades and Salmonella infection (KEGG). Affiliated tissues include cortex, brain and fetal brain, and related phenotypes are macrocephaly and spasticity

Disease Ontology : 12 A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.

GARD : 20 Subcortical band heterotopia, also known as double cortex syndrome, is a condition of abnormal brain development that is present from birth. This condition which primarily affects females, occurs when neurons migrate to an area of the brain where they are not supposed to be (heterotopia), and form abnormal areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex (subcortical), creating the appearance of a double cortex. Symptoms associated with subcortical band heterotopia vary from severe intellectual disability and epilepsy to normal intelligence with mild or no epilepsy. Subcortical band heterotopia is most often caused by mutations in the DCX gene. The condition is inherited in an X-linked dominant pattern. Some cases may be caused by a small deletion on chromosome 17 involving the LIS1 gene. Management consists of seizure control.

UniProtKB/Swiss-Prot : 72 Band heterotopia: A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.

Wikipedia : 73 Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the... more...

More information from OMIM: 600348

Related Diseases for Band Heterotopia

Diseases in the Band Heterotopia family:

Familial Band Heterotopia

Diseases related to Band Heterotopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 33.0 RELN PAFAH1B1 DCX
2 lissencephaly, x-linked, 1 32.9 PAFAH1B1 DCX
3 neuronal migration disorders 31.8 WDR62 TUBGCP2 TUBA1A RELN PAFAH1B1 DYNC1H1
4 lissencephaly 31.7 WDR62 TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
5 pachygyria 31.0 TUBGCP2 TUBA1A PAFAH1B1 DCX ADGRG1
6 polymicrogyria 30.6 TUBB2B TUBA8 DYNC1H1 ADGRG1
7 west syndrome 30.5 TUBA1A PAFAH1B1 FLNA ARFGEF2
8 hypomelanosis of ito 30.3 TUBA1A PAFAH1B1 ARFGEF2
9 miller-dieker lissencephaly syndrome 29.7 WDR62 TUBG1 TUBB2B TUBA8 TUBA1A RELN
10 microcephaly 29.5 WDR62 TUBGCP2 TUBG1 TUBA8 TUBA1A KIF5C
11 periventricular nodular heterotopia 28.8 WDR62 TUBG1 TUBB2B TUBA8 TUBA1A RELN
12 pafah1b1-related lissencephaly/subcortical band heterotopia 11.4
13 lissencephaly 5 11.3
14 familial band heterotopia 11.2
15 lissencephaly 10 11.1
16 cortical dysplasia, complex, with other brain malformations 3 11.1
17 cortical dysplasia, complex, with other brain malformations 4 11.1
18 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 11.1
19 tubulinopathy 10.4 TUBB2B TUBA1A
20 tubulinopathy-associated dysgyria 10.4 TUBB2B TUBA1A
21 dcx-related disorders 10.4
22 seizure disorder 10.4
23 polymicrogyria with optic nerve hypoplasia 10.4 TUBA8 PAFAH1B1 DCX
24 lissencephaly with cerebellar hypoplasia 10.4 RELN PAFAH1B1 DCX
25 polymicrogyria, bilateral perisylvian, x-linked 10.3 TUBA1A ADGRG1
26 paralytic squint 10.3 TUBB2B TUBA1A
27 distal hereditary motor neuronopathy type 7 10.3 PAFAH1B1 DYNC1H1
28 alacrima, achalasia, and mental retardation syndrome 10.3
29 spinal muscular atrophy with lower extremity predominance 10.3 PAFAH1B1 DYNC1H1
30 aicardi syndrome 10.2 WDR62 TUBB2B FLNA ADGRG1
31 lissencephaly 2 10.2 TUBG1 TUBB2B TUBA1A RELN PAFAH1B1
32 cerebellar hypoplasia 10.2 TUBA1A RELN PAFAH1B1 FLNA DCX
33 neuronopathy, distal hereditary motor, type viib 10.2 PAFAH1B1 DYNC1H1
34 tukel syndrome 10.2 TUBG1 TUBB2B TUBA8 TUBA1A KIF5C
35 dyslexia 10.2 RELN FLNA DCX DCDC2
36 chromosome 17p13.3, centromeric, duplication syndrome 10.2 PAFAH1B1 DCX
37 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
38 hypotonia 10.2
39 epilepsy 10.1
40 focal epilepsy 10.1
41 periventricular nodular heterotopia 1 10.1
42 physical disorder 10.1 WDR62 TUBA1A RELN PAFAH1B1 FLNA DCX
43 microlissencephaly 10.1 TUBB2B TUBA1A
44 hypertelorism 10.0
45 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
46 cortical dysplasia, complex, with other brain malformations 10 10.0
47 lennox-gastaut syndrome 10.0
48 chromosomal triplication 10.0
49 hemimegalencephaly 10.0
50 febrile seizures 10.0

Graphical network of the top 20 diseases related to Band Heterotopia:



Diseases related to Band Heterotopia

Symptoms & Phenotypes for Band Heterotopia

Human phenotypes related to Band Heterotopia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 spasticity 31 HP:0001257
3 agenesis of corpus callosum 31 HP:0001274
4 sleep disturbance 31 HP:0002360
5 hydrocephalus 31 HP:0000238
6 global developmental delay 31 HP:0001263
7 intellectual disability, severe 31 HP:0010864
8 abnormality of the skeletal system 31 HP:0000924
9 ventriculomegaly 31 HP:0002119
10 polymicrogyria 31 HP:0002126
11 gray matter heterotopia 31 HP:0002282
12 seizure 31 HP:0001250
13 subcortical band heterotopia 31 HP:0032409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
intellectual disability, severe
polymicrogyria
sleep disturbances
more
Head And Neck Head:
macrocephaly (+2.5 sd)

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Clinical features from OMIM®:

600348 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Band Heterotopia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 9.17 ADGRG1 DCDC2 DCX KIF5C PAFAH1B1 RAPGEF2

MGI Mouse Phenotypes related to Band Heterotopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ADGRG1 DCDC2 DCX DYNC1H1 EML1 FLNA
2 cellular MP:0005384 10.1 ADGRG1 ARFGEF2 DCLK1 EML1 FLNA KIF2A
3 mortality/aging MP:0010768 10 ARFGEF2 DCLK1 DCX DYNC1H1 EML1 FLNA
4 nervous system MP:0003631 9.89 ADGRG1 ARFGEF2 DCDC2 DCLK1 DCX DYNC1H1
5 reproductive system MP:0005389 9.28 ADGRG1 DCLK1 DCX DYNC1H1 FLNA PAFAH1B1

Drugs & Therapeutics for Band Heterotopia

Search Clinical Trials , NIH Clinical Center for Band Heterotopia

Genetic Tests for Band Heterotopia

Genetic tests related to Band Heterotopia:

# Genetic test Affiliating Genes
1 Subcortical Band Heterotopia 29
2 Band Heterotopia 29 EML1

Anatomical Context for Band Heterotopia

MalaCards organs/tissues related to Band Heterotopia:

40
Cortex, Brain, Fetal Brain, Liver, Cerebellum, Thalamus, Thyroid

Publications for Band Heterotopia

Articles related to Band Heterotopia:

(show top 50) (show all 221)
# Title Authors PMID Year
1
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. 61 57 6
24859200 2014
2
The genetic landscape of familial congenital hydrocephalus. 57 6
28556411 2017
3
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 61 6
14581661 2003
4
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 61 6
10441340 1999
5
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 6
11502906 2001
6
Subcortical band heterotopia in a patient with phenylketonuria: Co-Existence or consequence? 61
33618142 2021
7
Doublecortin facilitates the elongation of the somatic Golgi apparatus into proximal dendrites. 61
33405953 2021
8
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. 61
33738444 2021
9
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects. 61
33453472 2021
10
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report. 61
33269262 2020
11
Acquired dysgraphia in a girl with subcortical band heterotopia. 61
32990917 2020
12
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations. 61
32570172 2020
13
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 61
31820818 2019
14
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 61
31630790 2019
15
Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia. 61
30534979 2019
16
Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia. 61
30689978 2019
17
Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice. 61
30597194 2019
18
Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia. 61
30597542 2019
19
Size of Subcortical Band Heterotopia Influences the Susceptibility to Hyperthermia-Induced Seizures in a Rat Model. 61
31680876 2019
20
Drebrin-like (Dbnl) Controls Neuronal Migration via Regulating N-Cadherin Expression in the Developing Cerebral Cortex. 61
30504273 2019
21
Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia. 61
31231230 2019
22
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 61
29671837 2018
23
Laminating the mammalian cortex during development: cell polarity protein function and Hippo signaling. 61
29921662 2018
24
Comprehensive behavioral analysis of mice deficient in Rapgef2 and Rapgef6, a subfamily of guanine nucleotide exchange factors for Rap small GTPases possessing the Ras/Rap-associating domain. 61
29747665 2018
25
Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. 61
29229923 2017
26
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome. 61
29258966 2017
27
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. 61
28828134 2017
28
Lissencephaly: Expanded imaging and clinical classification. 61
28440899 2017
29
Expression of Ccdc85C, a causative protein for murine hydrocephalus, in the mammary gland tumors of dogs. 61
27457231 2017
30
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 61
28237832 2017
31
[Subcortical laminar heterotopia 'double cortex syndrome']. 61
29213043 2017
32
Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility. 61
28701917 2017
33
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 61
28953922 2017
34
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. 61
27965181 2016
35
Advanced structural multimodal imaging of a patient with subcortical band heterotopia. 61
28413838 2016
36
Neuroanatomical characterization of the cellular and axonal architecture of subcortical band heterotopia in the BXD29-Tlr4lps-2J/J mouse cortex. 61
27595889 2016
37
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. 61
27381655 2016
38
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 61
27240540 2016
39
Visual Impairment Due to Lissencephaly. 61
27928411 2016
40
Genetic Basis of Brain Malformations. 61
27781032 2016
41
A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. 61
27292316 2016
42
Thyroid hormone-dependent formation of a subcortical band heterotopia (SBH) in the neonatal brain is not exacerbated under conditions of low dietary iron (FeD). 61
27216871 2016
43
Familial pachygyria in both genders related to a DCX mutation. 61
26743950 2016
44
Crucial Role of Rapgef2 and Rapgef6, a Family of Guanine Nucleotide Exchange Factors for Rap1 Small GTPase, in Formation of Apical Surface Adherens Junctions and Neural Progenitor Development in the Mouse Cerebral Cortex. 61
27390776 2016
45
Band Heterotopia: An Unusual Cause of Seizures. 61
27685882 2016
46
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human. 61
25817838 2015
47
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. 61
25868952 2015
48
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. 61
25645638 2015
49
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. 61
26221167 2015
50
Normotopic cortex is the major contributor to epilepsy in experimental double cortex. 61
25074818 2014

Variations for Band Heterotopia

ClinVar genetic disease variations for Band Heterotopia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EML1 NM_004434.3(EML1):c.727A>G (p.Thr243Ala) SNV Pathogenic 254259 rs886037936 GRCh37: 14:100363531-100363531
GRCh38: 14:99897194-99897194
2 EML1 NM_004434.3(EML1):c.673T>C (p.Trp225Arg) SNV Pathogenic 254260 rs886037937 GRCh37: 14:100361091-100361091
GRCh38: 14:99894754-99894754
3 EML1 NM_004434.3(EML1):c.412C>T (p.Arg138Ter) SNV Pathogenic 254258 rs886037935 GRCh37: 14:100344850-100344850
GRCh38: 14:99878513-99878513
4 EML1 NM_004434.3(EML1):c.1567C>T (p.Arg523Ter) SNV Pathogenic 548146 rs1555404109 GRCh37: 14:100380588-100380588
GRCh38: 14:99914251-99914251
5 EML1 NM_004434.3(EML1):c.1820+1G>C SNV Pathogenic 1031421 GRCh37: 14:100384187-100384187
GRCh38: 14:99917850-99917850
6 PAFAH1B1 NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) SNV Pathogenic 8076 rs121434484 GRCh37: 17:2573562-2573562
GRCh38: 17:2670268-2670268
7 PAFAH1B1 NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) SNV Pathogenic 8080 rs121434488 GRCh37: 17:2577404-2577404
GRCh38: 17:2674110-2674110
8 PAFAH1B1 NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) SNV Pathogenic 8081 rs121434489 GRCh37: 17:2541604-2541604
GRCh38: 17:2638310-2638310
9 EML1 NM_004434.3(EML1):c.1897C>T (p.Arg633Ter) SNV Likely pathogenic 1028240 GRCh37: 14:100387202-100387202
GRCh38: 14:99920865-99920865

UniProtKB/Swiss-Prot genetic disease variations for Band Heterotopia:

72
# Symbol AA change Variation ID SNP ID
1 EML1 p.Trp225Arg VAR_071075 rs886037937
2 EML1 p.Thr243Ala VAR_071076 rs886037936

Expression for Band Heterotopia

Search GEO for disease gene expression data for Band Heterotopia.

Pathways for Band Heterotopia

Pathways related to Band Heterotopia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 TUBGCP2 TUBG1 TUBB2B TUBA8 RAPGEF2
2
Show member pathways
12.28 TUBB2B TUBA8 TUBA1A KIF5C FLNA DYNC1H1
3 12.21 TUBG1 TUBA1A PAFAH1B1 FLNA DCX
4
Show member pathways
12.15 TUBB2B TUBA8 TUBA1A ARFGEF2
5
Show member pathways
11.93 TUBB2B TUBA8 TUBA1A FLNA
6 11.85 TUBB2B TUBA8 TUBA1A DYNC1H1
7
Show member pathways
11.84 TUBB2B TUBA8 TUBA1A
8
Show member pathways
11.76 TUBB2B TUBA8 TUBA1A
9 11.6 TUBB2B TUBA8 TUBA1A
10 11.54 TUBB2B TUBA8 TUBA1A DYNC1H1
11
Show member pathways
11.39 TUBG1 TUBB2B TUBA8 TUBA1A KIF5C
12 10.42 RELN PAFAH1B1 DYNC1H1 DCX

GO Terms for Band Heterotopia

Cellular components related to Band Heterotopia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.32 WDR62 TUBGCP2 TUBG1 TUBA1A RAPGEF2 PAFAH1B1
2 cytoplasm GO:0005737 10.3 WDR62 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A
3 perinuclear region of cytoplasm GO:0048471 9.95 RAPGEF2 PAFAH1B1 LAMB1 FLNA EML1 ARFGEF2
4 neuron projection GO:0043005 9.92 RELN RAPGEF2 PAFAH1B1 KIF5C DCX
5 centrosome GO:0005813 9.88 WDR62 TUBGCP2 TUBG1 PAFAH1B1 KIF2A DYNC1H1
6 microtubule organizing center GO:0005815 9.87 WDR62 TUBGCP2 TUBG1 PAFAH1B1 KIF2A DCDC2
7 cytoskeleton GO:0005856 9.83 WDR62 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A
8 centriole GO:0005814 9.74 WDR62 TUBG1 KIF2A
9 spindle pole GO:0000922 9.73 WDR62 TUBGCP2 KIF2A
10 microtubule cytoskeleton GO:0015630 9.73 TUBB2B TUBA8 TUBA1A PAFAH1B1 EML1 DCDC2
11 recycling endosome GO:0055037 9.72 TUBG1 TUBA1A ARFGEF2
12 axon cytoplasm GO:1904115 9.67 PAFAH1B1 KIF5C DYNC1H1
13 kinesin complex GO:0005871 9.63 PAFAH1B1 KIF5C KIF2A
14 microtubule associated complex GO:0005875 9.61 PAFAH1B1 EML1 DCX
15 cytoplasmic microtubule GO:0005881 9.55 TUBGCP2 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
16 gamma-tubulin complex GO:0000930 9.54 TUBGCP2 TUBG1
17 microtubule GO:0005874 9.4 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1

Biological processes related to Band Heterotopia according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.1 RAPGEF2 PAFAH1B1 KIF2A DCX DCLK1 ADGRG1
2 multicellular organism development GO:0007275 10.09 RELN RAPGEF2 PAFAH1B1 KIF2A DCX DCLK1
3 intracellular signal transduction GO:0035556 9.97 RAPGEF2 DCX DCLK1 DCDC2 ARFGEF2
4 brain development GO:0007420 9.95 TUBGCP2 RELN PAFAH1B1 EML1 DCX DCLK1
5 cell migration GO:0016477 9.91 RELN PAFAH1B1 LAMB1 ADGRG1
6 mitotic cell cycle GO:0000278 9.91 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A DYNC1H1
7 G2/M transition of mitotic cell cycle GO:0000086 9.83 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
8 nervous system development GO:0007399 9.81 WDR62 TUBB2B RAPGEF2 PAFAH1B1 KIF2A DCX
9 ciliary basal body-plasma membrane docking GO:0097711 9.8 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
10 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.78 TUBG1 TUBA1A PAFAH1B1 DYNC1H1
11 microtubule-based movement GO:0007018 9.77 KIF5C KIF2A DYNC1H1
12 mitotic spindle organization GO:0007052 9.77 WDR62 TUBG1 KIF2A EML1 DYNC1H1
13 cerebral cortex development GO:0021987 9.76 WDR62 RELN PAFAH1B1 FLNA
14 hippocampus development GO:0021766 9.73 RELN PAFAH1B1 DCX
15 cytoplasmic microtubule organization GO:0031122 9.71 TUBGCP2 TUBG1 DYNC1H1
16 dendrite morphogenesis GO:0048813 9.69 DCX DCLK1 DCDC2
17 positive regulation of neural precursor cell proliferation GO:2000179 9.65 FLNA ADGRG1
18 microtubule-based process GO:0007017 9.65 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1
19 positive regulation of dendritic spine morphogenesis GO:0061003 9.64 RELN PAFAH1B1
20 microtubule nucleation GO:0007020 9.64 TUBGCP2 TUBG1
21 cytoskeleton-dependent intracellular transport GO:0030705 9.63 TUBA1A KIF5C
22 neuroblast proliferation GO:0007405 9.62 PAFAH1B1 EML1
23 positive regulation of neuron migration GO:2001224 9.62 RAPGEF2 FLNA
24 layer formation in cerebral cortex GO:0021819 9.62 RELN PAFAH1B1 DCX ADGRG1
25 nuclear migration GO:0007097 9.61 PAFAH1B1 DYNC1H1
26 retrograde axonal transport GO:0008090 9.6 PAFAH1B1 DYNC1H1
27 central nervous system projection neuron axonogenesis GO:0021952 9.58 DCX DCLK1
28 reelin-mediated signaling pathway GO:0038026 9.58 RELN PAFAH1B1
29 microtubule cytoskeleton organization GO:0000226 9.56 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A PAFAH1B1
30 neuron migration GO:0001764 9.23 TUBGCP2 TUBB2B RELN RAPGEF2 PAFAH1B1 DCX

Molecular functions related to Band Heterotopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 WDR62 TUBGCP2 TUBG1 TUBB2B TUBA8 TUBA1A
2 nucleotide binding GO:0000166 9.86 TUBG1 TUBB2B TUBA8 TUBA1A KIF5C KIF2A
3 GTPase activity GO:0003924 9.67 TUBG1 TUBB2B TUBA8 TUBA1A
4 microtubule binding GO:0008017 9.35 PAFAH1B1 KIF5C KIF2A EML1 DCX
5 microtubule motor activity GO:0003777 9.33 KIF5C KIF2A DYNC1H1
6 structural constituent of cytoskeleton GO:0005200 8.92 TUBG1 TUBB2B TUBA8 TUBA1A

Sources for Band Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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