BH
MCID: BND018
MIFTS: 51

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 74 29 6
Subcortical Band Heterotopia 12 53 25 59 29 6 15 72
Subcortical Laminar Heterotopia 12 25 59
Double Cortex Syndrome 12 53 25
Double Cortex 75 53 72
Bh 57 74
Heterotopia, Subcortical Band 25
Band Heterotopia of Brain 74
Heterotopic Cortex 12
Dc Syndrome 25
Heco 12
Sclh 25
Sbh 25
Bhy 17
Dc 53

Characteristics:

Orphanet epidemiological data:

59
subcortical band heterotopia
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
may result in early death


HPO:

32
band heterotopia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111169
OMIM 57 600348
MeSH 44 D054221
NCIt 50 C116933
ICD10 via Orphanet 34 Q04.3
UMLS via Orphanet 73 C1848201
Orphanet 59 ORPHA99796
UMLS 72 C1848201 C2931857

Summaries for Band Heterotopia

Genetics Home Reference : 25 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 Cytoskeletal Signaling and Regulation of CFTR activity (norm and CF). Affiliated tissues include cortex, brain and fetal brain, and related phenotypes are macrocephaly and agenesis of corpus callosum

NIH Rare Diseases : 53 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 : 74 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 : 75 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 147)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 1 33.7 RELN PAFAH1B1 DCX
2 lissencephaly, x-linked, 1 33.5 PAFAH1B1 DCX
3 lissencephaly 32.4 TUBA1A RELN PAFAH1B1 DCX
4 neuronal migration disorders 30.9 RELN PAFAH1B1 FLNA EMX2 DCX ADGRG1
5 pachygyria 30.3 TUBA1A PAFAH1B1 KIF2A ADGRG1
6 lennox-gastaut syndrome 29.7 EMX2 DCX ADGRG1
7 periventricular nodular heterotopia 27.8 TUBA1A RELN PAFAH1B1 FLNA EMX2 DCX
8 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.7
9 familial band heterotopia 12.4
10 breath-holding spells 12.0
11 lissencephaly 5 11.5
12 chromosome 17p13.1 deletion syndrome 11.4
13 cortical dysplasia, complex, with other brain malformations 3 11.3
14 cortical dysplasia, complex, with other brain malformations 4 11.3
15 phenylketonuria 10.4
16 acute leukemia 10.4
17 dcx-related disorders 10.4
18 seizure disorder 10.3
19 chromosome 17p13.3, centromeric, duplication syndrome 10.3 PAFAH1B1 DCX
20 lymphocytic leukemia 10.3
21 visual epilepsy 10.3
22 oral squamous cell carcinoma 10.3
23 squamous cell carcinoma 10.3
24 alacrima, achalasia, and mental retardation syndrome 10.2
25 myeloid leukemia 10.2
26 periventricular nodular heterotopia 1 10.2
27 encephalopathy 10.2
28 dermatitis 10.2
29 lissencephaly with cerebellar hypoplasia 10.2 RELN PAFAH1B1 DCX
30 cerebellar hypoplasia 10.1 RELN PAFAH1B1 DCX
31 schistosoma mansoni infection, susceptibility/ 10.1
32 lymphoma 10.1
33 neutropenia 10.1
34 schistosomiasis 10.1
35 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
36 focal epilepsy 10.1
37 polymicrogyria 10.1
38 hepatic adenomas, familial 10.1
39 mycobacterium tuberculosis 1 10.1
40 hepatocellular adenoma 10.1
41 hyperinsulinism 10.1
42 hemangioma 10.1
43 cystadenoma 10.1
44 cystadenocarcinoma 10.1
45 adenoma 10.1
46 hypertelorism 10.0
47 miller-dieker lissencephaly syndrome 10.0
48 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
49 cortical dysplasia, complex, with other brain malformations 7 10.0
50 west syndrome 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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 agenesis of corpus callosum 32 HP:0001274
3 hydrocephalus 32 HP:0000238
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 sleep disturbance 32 HP:0002360
7 global developmental delay 32 HP:0001263
8 intellectual disability, severe 32 HP:0010864
9 abnormality of the skeletal system 32 HP:0000924
10 ventriculomegaly 32 HP:0002119
11 polymicrogyria 32 HP:0002126
12 gray matter heterotopia 32 HP:0002282
13 subcortical band heterotopia 32 HP:0032409

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Band Heterotopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ADGRG1 DCX EML1 EMX2 FLNA KIF2A
2 cellular MP:0005384 10.03 ADGRG1 DCLK1 EML1 EMX2 FLNA KIF2A
3 mortality/aging MP:0010768 9.9 CCDC85C DCLK1 DCX EMX2 FLNA KIF2A
4 nervous system MP:0003631 9.8 ADGRG1 CCDC85C DCLK1 DCX EML1 EMX2
5 reproductive system MP:0005389 9.17 DCLK1 DCX EMX2 FLNA PAFAH1B1 RELN

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:

41
Cortex, Brain, Fetal Brain, Testes, Thyroid, Cerebellum, Thalamus

Publications for Band Heterotopia

Articles related to Band Heterotopia:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. 38 8 71
24859200 2014
2
The genetic landscape of familial congenital hydrocephalus. 8 71
28556411 2017
3
Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia. 38
30689978 2019
4
Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia. 38
30597542 2019
5
Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice. 38
30597194 2019
6
Drebrin-like (Dbnl) Controls Neuronal Migration via Regulating N-Cadherin Expression in the Developing Cerebral Cortex. 38
30504273 2019
7
Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia. 38
31231230 2019
8
Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia. 38
30534979 2018
9
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. 38
29671837 2018
10
Laminating the mammalian cortex during development: cell polarity protein function and Hippo signaling. 38
29921662 2018
11
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. 38
29747665 2018
12
Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex. 38
29229923 2017
13
Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome. 38
29258966 2017
14
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. 38
28828134 2017
15
Lissencephaly: Expanded imaging and clinical classification. 38
28440899 2017
16
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. 38
28237832 2017
17
Expression of Ccdc85C, a causative protein for murine hydrocephalus, in the mammary gland tumors of dogs. 38
27457231 2017
18
Distinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility. 38
28701917 2017
19
[Subcortical laminar heterotopia 'double cortex syndrome']. 38
29213043 2017
20
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. 38
28953922 2017
21
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. 38
27965181 2016
22
Advanced structural multimodal imaging of a patient with subcortical band heterotopia. 38
28413838 2016
23
Neuroanatomical characterization of the cellular and axonal architecture of subcortical band heterotopia in the BXD29-Tlr4lps-2J/J mouse cortex. 38
27595889 2016
24
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. 38
27381655 2016
25
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 38
27240540 2016
26
Visual Impairment Due to Lissencephaly. 38
27928411 2016
27
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. 38
27292316 2016
28
Genetic Basis of Brain Malformations. 38
27781032 2016
29
Thyroid hormone-dependent formation of a subcortical band heterotopia (SBH) in the neonatal brain is not exacerbated under conditions of low dietary iron (FeD). 38
27216871 2016
30
Familial pachygyria in both genders related to a DCX mutation. 38
26743950 2016
31
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. 38
27390776 2016
32
Band Heterotopia: An Unusual Cause of Seizures. 38
27685882 2016
33
A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human. 38
25817838 2015
34
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. 38
25868952 2015
35
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. 38
25645638 2015
36
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. 38
26221167 2015
37
Normotopic cortex is the major contributor to epilepsy in experimental double cortex. 38
25074818 2014
38
Proliferative defects and formation of a double cortex in mice lacking Mltt4 and Cdh2 in the dorsal telencephalon. 38
25100583 2014
39
Lissencephaly with subcortical band heterotopia in an Indian family. 38
24493317 2014
40
Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia. 38
23958594 2014
41
Subcortical band heterotopia in rat offspring following maternal hypothyroxinaemia: structural and functional characteristics. 38
24889016 2014
42
Somatic mutations in cerebral cortical malformations. 38
25140959 2014
43
The diagnosis of band heterotopia. 38
24810876 2014
44
Chronic unlimited recording electrocorticography-guided resective epilepsy surgery: technology-enabled enhanced fidelity in seizure focus localization with improved surgical efficacy. 38
24655096 2014
45
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 38
24585383 2014
46
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. 38
24497998 2014
47
The role of α-E-catenin in cerebral cortex development: radial glia specific effect on neuronal migration. 38
25147501 2014
48
'Double cortex' sign on FDG-PET/CT in diffuse band heterotopia. 38
24379541 2013
49
[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation]. 38
24205692 2013
50
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. 38
23583063 2013

Variations for Band Heterotopia

ClinVar genetic disease variations for Band Heterotopia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EML1 NM_004434.3(EML1): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs1555404109 14:100380588-100380588 14:99914251-99914251
2 PAFAH1B1 NM_000430.4(PAFAH1B1): c.505T> C (p.Ser169Pro) single nucleotide variant Pathogenic rs121434484 17:2573562-2573562 17:2670268-2670268
3 PAFAH1B1 NM_000430.4(PAFAH1B1): c.722G> C (p.Arg241Pro) single nucleotide variant Pathogenic rs121434488 17:2577404-2577404 17:2674110-2674110
4 PAFAH1B1 NM_000430.4(PAFAH1B1): c.22C> T (p.Arg8Ter) single nucleotide variant Pathogenic rs121434489 17:2541604-2541604 17:2638310-2638310
5 EML1 NM_004434.3(EML1): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs886037935 14:100344850-100344850 14:99878513-99878513
6 EML1 NM_004434.3(EML1): c.727A> G (p.Thr243Ala) single nucleotide variant Pathogenic rs886037936 14:100363531-100363531 14:99897194-99897194
7 EML1 NM_004434.3(EML1): c.673T> C (p.Trp225Arg) single nucleotide variant Pathogenic rs886037937 14:100361091-100361091 14:99894754-99894754

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

74
# 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

GO Terms for Band Heterotopia

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

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.61 TUBG1 PAFAH1B1 KIF2A
2 cytoskeleton GO:0005856 9.61 TUBG1 TUBB2B TUBA1A PAFAH1B1 KIF5C KIF2A
3 microtubule cytoskeleton GO:0015630 9.56 TUBB2B TUBA1A PAFAH1B1 EML1
4 kinesin complex GO:0005871 9.54 PAFAH1B1 KIF5C KIF2A
5 cytoplasmic microtubule GO:0005881 9.5 TUBG1 TUBA1A PAFAH1B1
6 spindle microtubule GO:0005876 9.4 TUBG1 KIF2A
7 microtubule associated complex GO:0005875 9.33 PAFAH1B1 EML1 DCX
8 microtubule GO:0005874 9.23 TUBG1 TUBB2B TUBA1A PAFAH1B1 KIF5C KIF2A

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.91 TUBB2B PAFAH1B1 KIF2A DCX DCLK1 ADGRG1
2 cell migration GO:0016477 9.8 RELN PAFAH1B1 ADGRG1
3 mitotic cell cycle GO:0000278 9.77 TUBG1 TUBB2B TUBA1A
4 G2/M transition of mitotic cell cycle GO:0000086 9.74 TUBG1 TUBA1A PAFAH1B1
5 central nervous system development GO:0007417 9.73 RELN DCX DCLK1
6 ciliary basal body-plasma membrane docking GO:0097711 9.72 TUBG1 TUBA1A PAFAH1B1
7 neuron migration GO:0001764 9.72 TUBB2B RELN PAFAH1B1 DCX DCLK1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.71 TUBG1 TUBA1A PAFAH1B1
9 forebrain development GO:0030900 9.69 RELN EMX2 DCLK1
10 hippocampus development GO:0021766 9.67 RELN PAFAH1B1 DCX
11 microtubule-based process GO:0007017 9.67 TUBG1 TUBB2B TUBA1A PAFAH1B1
12 cerebral cortex development GO:0021987 9.65 RELN PAFAH1B1 FLNA EMX2 CCDC85C
13 dendrite morphogenesis GO:0048813 9.63 DCX DCLK1
14 mitotic spindle organization GO:0007052 9.63 TUBG1 KIF2A EML1
15 mitotic spindle assembly GO:0090307 9.61 KIF2A FLNA
16 axon extension GO:0048675 9.61 DCX DCLK1
17 positive regulation of neural precursor cell proliferation GO:2000179 9.59 FLNA ADGRG1
18 positive regulation of dendritic spine morphogenesis GO:0061003 9.58 RELN PAFAH1B1
19 neuroblast proliferation GO:0007405 9.58 PAFAH1B1 EML1
20 central nervous system projection neuron axonogenesis GO:0021952 9.52 DCX DCLK1
21 brain development GO:0007420 9.5 RELN PAFAH1B1 EMX2 EML1 DCX DCLK1
22 cerebral cortex regionalization GO:0021796 9.48 EMX2 ADGRG1
23 layer formation in cerebral cortex GO:0021819 9.46 RELN PAFAH1B1 DCX ADGRG1
24 microtubule cytoskeleton organization GO:0000226 9.1 TUBG1 TUBB2B TUBA1A PAFAH1B1 KIF2A EML1
25 cell differentiation GO:0030154 10.02 PAFAH1B1 KIF2A DCX DCLK1 ADGRG1
26 multicellular organism development GO:0007275 10.01 RELN PAFAH1B1 KIF2A EMX2 DCX DCLK1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 TUBG1 TUBB2B TUBA1A
2 microtubule binding GO:0008017 9.02 PAFAH1B1 KIF5C KIF2A EML1 DCX

Sources for Band Heterotopia

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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