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 58 12 76 30 6
Subcortical Band Heterotopia 12 54 26 60 30 6 15 74
Subcortical Laminar Heterotopia 12 26 60
Double Cortex Syndrome 12 54 26
Double Cortex 77 54 74
Bh 58 76
Heterotopia, Subcortical Band 26
Band Heterotopia of Brain 76
Heterotopic Cortex 12
Dc Syndrome 26
Heco 12
Sclh 26
Sbh 26
Dc 54

Characteristics:

Orphanet epidemiological data:

60
subcortical band heterotopia
Inheritance: Autosomal recessive,X-linked recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
may result in early death


HPO:

33
band heterotopia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111169
OMIM 58 600348
MeSH 45 D054221
NCIt 51 C116933
ICD10 via Orphanet 35 Q04.3
UMLS via Orphanet 75 C1848201
Orphanet 60 ORPHA99796

Summaries for Band Heterotopia

NIH Rare Diseases : 54 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 (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 thyroid, and related phenotypes are macrocephaly and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 76 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 : 77 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 45)
# 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 30.6 ADGRG1 DCX EMX2 FLNA PAFAH1B1 RELN
4 lissencephaly 30.5 DCX PAFAH1B1 RELN TUBA1A
5 pachygyria 29.6 ADGRG1 KIF2A PAFAH1B1 TUBA1A
6 lennox-gastaut syndrome 29.2 ADGRG1 DCX EMX2
7 pafah1b1-associated lissencephaly/subcortical band heterotopia 12.5
8 familial band heterotopia 12.3
9 breath-holding spells 12.1
10 lissencephaly 5 11.4
11 chromosome 17p13.1 deletion syndrome 11.3
12 cortical dysplasia, complex, with other brain malformations 3 11.2
13 cortical dysplasia, complex, with other brain malformations 4 11.2
14 phenylketonuria 10.4
15 chromosome 17p13.3, centromeric, duplication syndrome 10.3 DCX PAFAH1B1
16 lissencephaly with cerebellar hypoplasia 10.1 DCX PAFAH1B1 RELN
17 epilepsy 10.0
18 polymicrogyria 10.0
19 cerebellar hypoplasia 10.0 DCX PAFAH1B1 RELN
20 tubulinopathy-associated dysgyria 10.0 TUBA1A TUBB2B
21 diabetes mellitus, noninsulin-dependent 10.0
22 hypertension, essential 10.0
23 coronary heart disease 1 10.0
24 osteonecrosis 10.0
25 heart disease 10.0
26 onchocerciasis 10.0
27 dysentery 10.0
28 thyroid cancer 10.0
29 cholecystitis 10.0
30 nonalcoholic steatohepatitis 10.0
31 differentiated thyroid carcinoma 10.0
32 classic phenylketonuria 10.0
33 microlissencephaly 9.9 TUBA1A TUBB2B
34 miller-dieker lissencephaly syndrome 9.9 PAFAH1B1 TUBA1A
35 physical disorder 9.9 DCX FLNA PAFAH1B1 TUBA1A
36 baraitser-winter syndrome 9.9
37 tuberous sclerosis 9.9
38 lipomatosis 9.9
39 zellweger syndrome 9.9
40 facial infiltrating lipomatosis 9.9
41 hemimegalencephaly 9.9
42 megalencephaly 9.9
43 mitochondrial encephalomyopathy 9.6
44 congenital nervous system abnormality 9.4 DCX FLNA PAFAH1B1 RELN TUBA1A TUBB2B
45 periventricular nodular heterotopia 9.0 ADGRG1 DCX EMX2 FLNA PAFAH1B1 RELN

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:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 agenesis of corpus callosum 33 HP:0001274
3 hydrocephalus 33 HP:0000238
4 seizures 33 HP:0001250
5 spasticity 33 HP:0001257
6 sleep disturbance 33 HP:0002360
7 global developmental delay 33 HP:0001263
8 intellectual disability, severe 33 HP:0010864
9 abnormality of the skeletal system 33 HP:0000924
10 ventriculomegaly 33 HP:0002119
11 polymicrogyria 33 HP:0002126
12 heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Band Heterotopia:

47
# 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 9.85 DCLK1 DCX EMX2 FLNA KIF2A LAMB1
4 nervous system MP:0003631 9.77 ADGRG1 DCLK1 DCX EML1 EMX2 FLNA
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 30
2 Band Heterotopia 30

Anatomical Context for Band Heterotopia

MalaCards organs/tissues related to Band Heterotopia:

42
Cortex, Brain, Thyroid, Cerebellum, Thalamus

Publications for Band Heterotopia

Articles related to Band Heterotopia:

(show top 50) (show all 81)
# Title Authors Year
1
Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia. ( 30597542 )
2019
2
Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heteropia. ( 30689978 )
2019
3
Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia. ( 30534979 )
2018
4
Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice. ( 30597194 )
2018
5
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia. ( 28828134 )
2017
6
Stimulation of the bilateral anterior nuclei of the thalamus in the treatment of refractory epilepsy: two cases of subcortical band heterotopia. ( 27965181 )
2016
7
Band Heterotopia: An Unusual Cause of Seizures. ( 27685882 )
2016
8
Advanced structural multimodal imaging of a patient with subcortical band heterotopia. ( 28413838 )
2016
9
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
10
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. ( 27381655 )
2016
11
Neuroanatomical characterization of the cellular and axonal architecture of subcortical band heterotopia in the BXD29-Tlr4(lps-2J)/J mouse cortex. ( 27595889 )
2016
12
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
13
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report. ( 26221167 )
2015
14
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. ( 25645638 )
2015
15
Subcortical band heterotopia in rat offspring following maternal hypothyroxinaemia: structural and functional characteristics. ( 24889016 )
2014
16
Lissencephaly with subcortical band heterotopia in an Indian family. ( 24493317 )
2014
17
The diagnosis of band heterotopia. ( 24810876 )
2014
18
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing. ( 23583063 )
2013
19
Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia. ( 23958594 )
2013
20
'Double cortex' sign on FDG-PET/CT in diffuse band heterotopia. ( 24379541 )
2013
21
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. ( 22408144 )
2012
22
Mosaic DCX deletion causes subcortical band heterotopia in males. ( 22833188 )
2012
23
Widespread symmetrical subcortical band heterotopia. ( 21856581 )
2011
24
Disturbances in the positioning, proliferation and apoptosis of neural progenitors contribute to subcortical band heterotopia formation. ( 21145942 )
2011
25
Double inversion recovery magnetic resonance imaging of subcortical band heterotopia: a report of 2 cases. ( 21245686 )
2011
26
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
27
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. ( 20859836 )
2010
28
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. ( 19477093 )
2010
29
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene. ( 19619967 )
2010
30
The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. ( 20331703 )
2010
31
A Ten year-old Girl with Band Heterotopia or Double Cortex (two brains). ( 21509097 )
2010
32
Band heterotopia. ( 21702305 )
2010
33
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions. ( 19380077 )
2009
34
Dcx reexpression reduces subcortical band heterotopia and seizure threshold in an animal model of neuronal migration disorder. ( 19098909 )
2009
35
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. ( 19050731 )
2009
36
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia. ( 19050725 )
2009
37
Neuropsychological profile of children with subcortical band heterotopia. ( 19416314 )
2009
38
Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits. ( 18562329 )
2009
39
Ictal/interictal EEG patterns and functional neuroimaging findings in subcortical band heterotopia: report of three cases and review of the literature. ( 18318419 )
2008
40
Voxel-based 3D MRI analysis helps to detect subtle forms of subcortical band heterotopia. ( 18047585 )
2008
41
Subcortical laminar (band) heterotopia. ( 18809026 )
2008
42
Brief report: the impact of subcortical band heterotopia and associated complications on the neuropsychological functioning of a 13-year-old child. ( 17160462 )
2007
43
Lissencephaly variant of band heterotopia: PET peeves. ( 18021933 )
2007
44
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia. ( 17283321 )
2007
45
Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome). ( 17272920 )
2007
46
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia. ( 16100463 )
2005
47
Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered. ( 15921231 )
2005
48
Preserved episodic memory in subcortical band heterotopia. ( 15101838 )
2004
49
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia. ( 15007136 )
2004
50
Subcortical band heterotopia with simplified gyral pattern and syndactyly. ( 12749065 )
2003

Variations for Band Heterotopia

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

76
# 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 rs1555404109 GRCh37 Chromosome 14, 100380588: 100380588
14 EML1 NM_004434.2(EML1): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs1555404109 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 9.61 DCX EML1 FLNA KIF2A KIF5C PAFAH1B1
2 spindle GO:0005819 9.58 KIF2A PAFAH1B1 TUBG1
3 microtubule cytoskeleton GO:0015630 9.56 EML1 PAFAH1B1 TUBA1A TUBB2B
4 kinesin complex GO:0005871 9.54 KIF2A KIF5C PAFAH1B1
5 cytoplasmic microtubule GO:0005881 9.5 PAFAH1B1 TUBA1A TUBG1
6 spindle microtubule GO:0005876 9.43 KIF2A TUBG1
7 microtubule associated complex GO:0005875 9.33 DCX EML1 PAFAH1B1
8 microtubule GO:0005874 9.23 DCX EML1 KIF2A KIF5C PAFAH1B1 TUBA1A

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 ADGRG1 DCLK1 DCX EMX2 KIF2A PAFAH1B1
2 nervous system development GO:0007399 9.88 ADGRG1 DCLK1 DCX KIF2A PAFAH1B1 TUBB2B
3 cell migration GO:0016477 9.8 ADGRG1 PAFAH1B1 RELN
4 mitotic cell cycle GO:0000278 9.77 TUBA1A TUBB2B TUBG1
5 G2/M transition of mitotic cell cycle GO:0000086 9.74 PAFAH1B1 TUBA1A TUBG1
6 central nervous system development GO:0007417 9.73 DCLK1 DCX RELN
7 ciliary basal body-plasma membrane docking GO:0097711 9.72 PAFAH1B1 TUBA1A TUBG1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.7 PAFAH1B1 TUBA1A TUBG1
9 forebrain development GO:0030900 9.69 DCLK1 EMX2 RELN
10 hippocampus development GO:0021766 9.67 DCX PAFAH1B1 RELN
11 cerebral cortex development GO:0021987 9.67 EMX2 FLNA PAFAH1B1 RELN
12 neuron migration GO:0001764 9.65 DCLK1 DCX PAFAH1B1 RELN TUBB2B
13 dendrite morphogenesis GO:0048813 9.63 DCLK1 DCX
14 mitotic spindle organization GO:0007052 9.63 EML1 KIF2A TUBG1
15 mitotic spindle assembly GO:0090307 9.62 FLNA KIF2A
16 microtubule-based process GO:0007017 9.62 PAFAH1B1 TUBA1A TUBB2B TUBG1
17 axon extension GO:0048675 9.61 DCLK1 DCX
18 positive regulation of neural precursor cell proliferation GO:2000179 9.59 ADGRG1 FLNA
19 neuroblast proliferation GO:0007405 9.58 EML1 PAFAH1B1
20 positive regulation of dendritic spine morphogenesis GO:0061003 9.58 PAFAH1B1 RELN
21 central nervous system projection neuron axonogenesis GO:0021952 9.54 DCLK1 DCX
22 brain development GO:0007420 9.5 ADGRG1 DCLK1 DCX EML1 EMX2 PAFAH1B1
23 cerebral cortex regionalization GO:0021796 9.48 ADGRG1 EMX2
24 layer formation in cerebral cortex GO:0021819 9.46 ADGRG1 DCX PAFAH1B1 RELN
25 microtubule cytoskeleton organization GO:0000226 9.1 EML1 KIF2A PAFAH1B1 TUBA1A TUBB2B TUBG1
26 cell differentiation GO:0030154 10.01 ADGRG1 DCLK1 DCX KIF2A PAFAH1B1

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 TUBB2B TUBG1
2 microtubule binding GO:0008017 9.02 DCX EML1 KIF2A KIF5C PAFAH1B1

Sources for Band Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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