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 75 29 6
Subcortical Band Heterotopia 12 53 25 59 29 6 15 73
Subcortical Laminar Heterotopia 12 25 59
Double Cortex Syndrome 12 53 25
Double Cortex 76 53 73
Bh 57 75
Heterotopia, Subcortical Band 25
Band Heterotopia of Brain 75
Heterotopic Cortex 12
Dc Syndrome 25
Heco 12
Sclh 25
Sbh 25
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:

OMIM 57 600348
Disease Ontology 12 DOID:0111169
MeSH 44 D054221
NCIt 50 C116933
Orphanet 59 ORPHA99796
UMLS via Orphanet 74 C1848201
ICD10 via Orphanet 34 Q04.3

Summaries for Band Heterotopia

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. 

MalaCards based summary : Band Heterotopia, also known as subcortical band heterotopia, is related to lissencephaly, x-linked, 1 and lissencephaly 1. An important gene associated with Band Heterotopia is EML1 (Echinoderm Microtubule Associated Protein Like 1), and among its related pathways/superpathways are Neuroscience and Regulation of CFTR activity (norm and CF). Affiliated tissues include cortex, brain and thyroid, and related phenotypes are macrocephaly and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 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 : 76 Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the... more...

Description 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 all 46)
# Related Disease Score Top Affiliating Genes
1 lissencephaly, x-linked, 1 33.6 DCX PAFAH1B1
2 lissencephaly 1 33.3 DCX PAFAH1B1 RELN
3 neuronal migration disorders 31.1 DCX EMX2 FLNA PAFAH1B1 RELN
4 lissencephaly 30.5 DCX PAFAH1B1 RELN TUBA1A
5 pachygyria 30.0 KIF2A PAFAH1B1 TUBA1A TUBG1
6 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.5
7 familial band heterotopia 12.3
8 breath-holding spells 12.1
9 lissencephaly 5 11.3
10 chromosome 17p13.1 deletion syndrome 11.3
11 cortical dysplasia, complex, with other brain malformations 3 11.2
12 cortical dysplasia, complex, with other brain malformations 4 11.2
13 phenylketonuria 10.4
14 chromosome 17p13.3, centromeric, duplication syndrome 10.2 DCX PAFAH1B1
15 tubulinopathy-associated dysgyria 10.1 TUBA1A TUBB3
16 epilepsy 10.0
17 polymicrogyria 10.0
18 lissencephaly with cerebellar hypoplasia 10.0 DCX PAFAH1B1 RELN
19 cerebellar hypoplasia 10.0 DCX PAFAH1B1 RELN
20 hypertension, essential 10.0
21 coronary heart disease 1 10.0
22 osteonecrosis 10.0
23 heart disease 10.0
24 onchocerciasis 10.0
25 dysentery 10.0
26 thyroid cancer 10.0
27 cholecystitis 10.0
28 differentiated thyroid carcinoma 10.0
29 classic phenylketonuria 10.0
30 pseudobulbar palsy 9.9 SIX3 SRPX2
31 spastic cerebral palsy 9.9 SIX3 TUBB3
32 hydranencephaly 9.9 SIX3 TUBA1A
33 baraitser-winter syndrome 9.9
34 lipomatosis 9.9
35 zellweger syndrome 9.9
36 facial infiltrating lipomatosis 9.9
37 hemimegalencephaly 9.9
38 megalencephaly 9.9
39 deafness, autosomal dominant 28 9.8 SIX3 TUBB3
40 acquired schizencephaly 9.8 EMX2 SIX3
41 schizencephaly 9.8 EMX2 SIX3
42 lennox-gastaut syndrome 9.8
43 mitochondrial encephalomyopathy 9.6
44 physical disorder 9.5 DCX FLNA PAFAH1B1 SIX3 TUBA1A TUBB3
45 congenital nervous system abnormality 9.4 DCX FLNA PAFAH1B1 RELN SIX3 TUBA1A
46 periventricular nodular heterotopia 9.0 DCX EMX2 FLNA PAFAH1B1 RELN SIX3

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



Diseases related to Band Heterotopia

Symptoms & Phenotypes for Band Heterotopia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
intellectual disability, severe
polymicrogyria
agenesis of the corpus callosum
more
Head And Neck Head:
macrocephaly (+2.5 sd)

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems


Clinical features from OMIM:

600348

Human phenotypes related to Band Heterotopia:

32 (show all 12)
# 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 heterotopia 32 HP:0002282

MGI Mouse Phenotypes related to Band Heterotopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 DCX EML1 EMX2 FLNA KIF2A LAMB1
2 cellular MP:0005384 9.85 DCLK1 EML1 EMX2 FLNA KIF2A PAFAH1B1
3 mortality/aging MP:0010768 9.7 DCLK1 DCX EMX2 FLNA KIF2A LAMB1
4 nervous system MP:0003631 9.44 DCLK1 DCX EML1 EMX2 FLNA KIF2A

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, Thyroid, Cerebellum, Thalamus, Heart

Publications for Band Heterotopia

Articles related to Band Heterotopia:

(show top 50) (show all 78)
# Title Authors Year
1
Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia. ( 30534979 )
2018
2
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. ( 28828134 )
2017
3
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. ( 27965181 )
2016
4
Band Heterotopia: An Unusual Cause of Seizures. ( 27685882 )
2016
5
Advanced structural multimodal imaging of a patient with subcortical band heterotopia. ( 28413838 )
2016
6
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. ( 27292316 )
2016
7
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
8
Neuroanatomical characterization of the cellular and axonal architecture of subcortical band heterotopia in the BXD29-Tlr4(lps-2J)/J mouse cortex. ( 27595889 )
2016
9
Thyroid hormone-dependent formation of a subcortical band heterotopia (SBH) in the neonatal brain is not exacerbated under conditions of low dietary iron (FeD). ( 27216871 )
2016
10
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. ( 26221167 )
2015
11
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. ( 25645638 )
2015
12
Subcortical band heterotopia in rat offspring following maternal hypothyroxinaemia: structural and functional characteristics. ( 24889016 )
2014
13
Lissencephaly with subcortical band heterotopia in an Indian family. ( 24493317 )
2014
14
The diagnosis of band heterotopia. ( 24810876 )
2014
15
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. ( 23583063 )
2013
16
Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia. ( 23958594 )
2013
17
'Double cortex' sign on FDG-PET/CT in diffuse band heterotopia. ( 24379541 )
2013
18
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. ( 22408144 )
2012
19
Mosaic DCX deletion causes subcortical band heterotopia in males. ( 22833188 )
2012
20
Widespread symmetrical subcortical band heterotopia. ( 21856581 )
2011
21
Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. ( 21145942 )
2011
22
Double inversion recovery magnetic resonance imaging of subcortical band heterotopia: a report of 2 cases. ( 21245686 )
2011
23
A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. ( 19808989 )
2010
24
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. ( 20859836 )
2010
25
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
26
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene. ( 19619967 )
2010
27
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. ( 20331703 )
2010
28
A Ten year-old Girl with Band Heterotopia or Double Cortex (two brains). ( 21509097 )
2010
29
Band heterotopia. ( 21702305 )
2010
30
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions. ( 19380077 )
2009
31
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. ( 19098909 )
2009
32
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. ( 19050731 )
2009
33
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia. ( 19050725 )
2009
34
Neuropsychological profile of children with subcortical band heterotopia. ( 19416314 )
2009
35
Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits. ( 18562329 )
2009
36
Ictal/interictal EEG patterns and functional neuroimaging findings in subcortical band heterotopia: report of three cases and review of the literature. ( 18318419 )
2008
37
Voxel-based 3D MRI analysis helps to detect subtle forms of subcortical band heterotopia. ( 18047585 )
2008
38
Subcortical laminar (band) heterotopia. ( 18809026 )
2008
39
Brief report: the impact of subcortical band heterotopia and associated complications on the neuropsychological functioning of a 13-year-old child. ( 17160462 )
2007
40
Lissencephaly variant of band heterotopia: PET peeves. ( 18021933 )
2007
41
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. ( 17283321 )
2007
42
Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome). ( 17272920 )
2007
43
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia. ( 16100463 )
2005
44
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. ( 15921231 )
2005
45
Preserved episodic memory in subcortical band heterotopia. ( 15101838 )
2004
46
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. ( 15007136 )
2004
47
Subcortical band heterotopia with simplified gyral pattern and syndactyly. ( 12749065 )
2003
48
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. ( 14581661 )
2003
49
A neuropathological, stereo-EEG, and MRI study of subcortical band heterotopia. ( 12796544 )
2003
50
Metabolic properties of band heterotopia differ from those of other cortical dysplasias: a proton magnetic resonance spectroscopy study. ( 12614392 )
2003

Variations for Band Heterotopia

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

75
# Symbol AA change Variation ID SNP ID
1 EML1 p.Trp225Arg VAR_071075 rs886037937
2 EML1 p.Thr243Ala VAR_071076 rs886037936

ClinVar genetic disease variations for Band Heterotopia:

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

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 cytoskeleton GO:0005856 9.56 DCX EML1 FLNA KIF2A PAFAH1B1 TUBA1A
2 spindle GO:0005819 9.54 KIF2A PAFAH1B1 TUBG1
3 microtubule cytoskeleton GO:0015630 9.5 EML1 PAFAH1B1 TUBA1A
4 cytoplasmic microtubule GO:0005881 9.43 PAFAH1B1 TUBA1A TUBG1
5 spindle microtubule GO:0005876 9.4 KIF2A TUBG1
6 microtubule associated complex GO:0005875 9.33 DCX EML1 PAFAH1B1
7 microtubule GO:0005874 9.17 DCX EML1 KIF2A PAFAH1B1 TUBA1A TUBB3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 DCLK1 DCX EMX2 KIF2A PAFAH1B1 RELN
2 nervous system development GO:0007399 9.9 DCLK1 DCX KIF2A PAFAH1B1
3 mitotic cell cycle GO:0000278 9.76 TUBA1A TUBB3 TUBG1
4 G2/M transition of mitotic cell cycle GO:0000086 9.73 PAFAH1B1 TUBA1A TUBG1
5 central nervous system development GO:0007417 9.72 DCLK1 DCX RELN
6 ciliary basal body-plasma membrane docking GO:0097711 9.7 PAFAH1B1 TUBA1A TUBG1
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.67 PAFAH1B1 TUBA1A TUBG1
8 neuron migration GO:0001764 9.67 DCLK1 DCX PAFAH1B1 RELN
9 forebrain development GO:0030900 9.65 DCLK1 EMX2 RELN
10 hippocampus development GO:0021766 9.63 DCX PAFAH1B1 RELN
11 cerebral cortex development GO:0021987 9.62 EMX2 FLNA PAFAH1B1 RELN
12 dendrite morphogenesis GO:0048813 9.61 DCLK1 DCX
13 mitotic spindle assembly GO:0090307 9.61 FLNA KIF2A
14 mitotic spindle organization GO:0007052 9.61 EML1 KIF2A TUBG1
15 axon extension GO:0048675 9.59 DCLK1 DCX
16 neuroblast proliferation GO:0007405 9.58 EML1 PAFAH1B1
17 positive regulation of dendritic spine morphogenesis GO:0061003 9.57 PAFAH1B1 RELN
18 cell proliferation in forebrain GO:0021846 9.54 EMX2 SIX3
19 central nervous system projection neuron axonogenesis GO:0021952 9.51 DCLK1 DCX
20 brain development GO:0007420 9.5 DCLK1 DCX EML1 EMX2 PAFAH1B1 RELN
21 microtubule-based process GO:0007017 9.46 PAFAH1B1 TUBA1A TUBB3 TUBG1
22 layer formation in cerebral cortex GO:0021819 9.43 DCX PAFAH1B1 RELN
23 microtubule cytoskeleton organization GO:0000226 9.1 EML1 KIF2A PAFAH1B1 TUBA1A TUBB3 TUBG1

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 TUBA1A TUBB3 TUBG1
2 microtubule binding GO:0008017 8.92 DCX EML1 KIF2A PAFAH1B1

Sources for Band Heterotopia

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
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