MCID: PRV012
MIFTS: 41

Periventricular Heterotopia malady

Neuronal, Fetal, Genetic categories

Summaries for Periventricular Heterotopia

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.

MalaCards: Periventricular Heterotopia, also known as periventricular nodular heterotopia, is related to periventricular nodular heterotopia and lissencephaly, and has symptoms including eeg anomalies, seizures/epilepsy/absences/spasms/status epilepticus and autosomal dominant inheritance. An important gene associated with Periventricular Heterotopia is FLNA (filamin A, alpha), and among its related pathways is Salmonella infection. Affiliated tissues include brain, lung and cortex, and related mouse phenotypes are craniofacial and nervous system.

Description from OMIM:47 300049,608097,608098,612881,615544

Aliases & Classifications for Periventricular Heterotopia

Sources:
21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
nodular neuronal heterotopia:
Inheritance: Autosomal recessive,X-linked dominant; Age of onset: Variable
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant


Aliases & Descriptions:

periventricular heterotopia 21
periventricular nodular heterotopia 21 49 61
periventricular heterotopia, x-linked 61
periventricular laminar heterotopia 61
familial nodular heterotopia 21
nodular neuronal heterotopia 49
heterotopia, periventricular 47


External Ids:

ICD10 via Orphanet26 Q04.8
UMLS via Orphanet62 C1868720
MESH via Orphanet36 D054091

Related Diseases for Periventricular Heterotopia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Periventricular Heterotopia family:

periventricular heterotopia with microcephaly heterotopia, periventricular, ed variant

Diseases related to Periventricular Heterotopia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia31.9FLNA, ARFGEF2
2lissencephaly30.4YWHAE, FLNA
3n syndrome10.8
4x-linked periventricular heterotopia10.7
5periventricular heterotopia, autosomal recessive10.4
6megalencephaly10.4
7periventricular nodular heterotopia 310.4
8periventricular nodular heterotopia 510.4
9periventricular nodular heterotopia 610.4
10ehlers–danlos syndrome10.4
11periventricular heterotopia, ehlers-danlos variant10.4
12periventricular heterotopia with microcephaly10.3
13heterotopia, periventricular, ed variant10.3
14childhood absence epilepsy10.3
15tuberous sclerosis10.3
16temporal lobe epilepsy10.3
17syndactyly10.3
18obstructive hydrocephalus10.3
19williams syndrome10.3
20amniotic band syndrome10.3
21bilateral perisylvian polymicrogyria10.3
22cerebellar hypoplasia10.3
23jacobsen syndrome10.3
24chromosome 1p deletion10.3
25frontometaphyseal dysplasia10.3
26frontonasal dysplasia10.3
27left ventricular noncompaction10.3
28limb reduction defect10.3
29polymicrogyria, asymmetric10.3
30headache10.3
31van maldergem syndrome 210.3
32van maldergem syndrome 110.3
33dyslexia10.1
34west syndrome10.1
35micro syndrome10.1
36polymicrogyria10.1
37x-linked protoporphyria10.1
38corpus callosum agenesis10.1
39baraitser-winter syndrome10.1
40pachygyria10.1
41subcortical band heterotopia10.1
42ectodermal dysplasia10.1
43mental retardation epilepsy10.1
44mental retardation10.1
45cataract, congenital10.1
46short stature10.0HESX1, PQBP1
47skeletal dysplasias10.0FLNA, FLNB

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



Diseases related to periventricular heterotopia

Clinical Features for Periventricular Heterotopia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300049,608097,608098,612881,615544

Clinical synopsis from OMIM:

300049

Symptoms:

49 (see all 4)
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal dominant inheritance
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect

Drugs & Therapeutics for Periventricular Heterotopia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Periventricular Heterotopia

Drug clinical trials:

Search ClinicalTrials for Periventricular Heterotopia

Search NIH Clinical Center for Periventricular Heterotopia

Search CenterWatch for Periventricular Heterotopia

Genetic Tests for Periventricular Heterotopia

Anatomical Context for Periventricular Heterotopia

Sources:
33MalaCards
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MalaCards organs/tissues related to Periventricular Heterotopia:

33
Brain, Lung, Cortex, Fetal brain, Cingulate cortex, Temporal lobe, Pituitary

Animal Models for Periventricular Heterotopia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Periventricular Heterotopia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7NAPA, FLNA, FLNB, HESX1
2MP:00036317.4YWHAE, HESX1, ARFGEF2, FLNB, FLNA, NAPA

Publications for Periventricular Heterotopia

Sources:
51PubMed
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Articles related to Periventricular Heterotopia:

(show top 50)    (show all 134)
idTitleAuthorsYear
1
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
2
Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report. (23266946)
2014
3
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
4
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. (23032111)
2013
5
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. (23636902)
2013
6
Integration of gray matter nodules into functional cortical circuits in periventricular heterotopia. (24090774)
2013
7
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. (22678982)
2012
8
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
2012
9
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. (22740120)
2012
10
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. (21484998)
2011
11
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
12
Periventricular nodular heterotopia and cardiovascular defects. (22196066)
2011
13
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. (20888935)
2011
14
Radiofrequency lesioning for epileptogenic periventricular nodular heterotopia: a rational approach. (21899532)
2011
15
Initiation of epileptiform activity in a rat model of periventricular nodular heterotopia. (21933177)
2011
16
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
17
Periventricular heterotopia in common microdeletion syndromes. (20648244)
2010
18
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (19477093)
2010
19
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
20
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. (18996916)
2009
21
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
22
Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p. (18243084)
2008
23
Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). (17355480)
2007
24
Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case. (17621503)
2007
25
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. (16684786)
2006
26
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. (16299064)
2006
27
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
28
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
29
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. (16417552)
2006
30
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (16434687)
2006
31
Periventricular nodular heterotopia and Williams syndrome. (16691586)
2006
32
Periventricular nodular heterotopia with overlying polymicrogyria. (16311271)
2005
33
Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. (16087931)
2005
34
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. (16303888)
2005
35
The role of periventricular nodular heterotopia in epileptogenesis. (15659421)
2005
36
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (15249610)
2004
37
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. (14684696)
2003
38
Periventricular heterotopia associated with chromosome 5p anomalies. (12654978)
2003
39
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? (12372734)
2002
40
Cortical periventricular heterotopia with ectodermal dysplasia. (12457413)
2002
41
Periventricular nodular heterotopia: report of a pediatric series. (12088088)
2002
42
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
43
Periventricular heterotopia may result from radial glial fiber disruption. (11556542)
2001
44
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. (11100490)
2000
45
Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome). (10342602)
1999
46
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. (9932953)
1999
47
Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis. (10933474)
1998
48
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996
49
Hemimegaloencephaly with periventricular heterotopia--case report. (7526246)
1994
50
Familial periventricular nodular heterotopia. (8214353)
1993

Genetic Variations for Periventricular Heterotopia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Periventricular Heterotopia:

63
id Symbol AA change Variation SNP ID
1FLNAp.Leu656PheVAR_012834
2FLNAp.Glu82ValVAR_015699rs28935169
3FLNAp.Met102ValVAR_031305
4FLNAp.Ser149PheVAR_031307
5FLNAp.Val528MetVAR_031309rs143873938

Expression for genes affiliated with Periventricular Heterotopia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Periventricular Heterotopia

Search GEO for disease gene expression data for Periventricular Heterotopia.

Pathways for genes affiliated with Periventricular Heterotopia

Sources:
30KEGG
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Pathways related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FLNA, FLNB

Compounds for genes affiliated with Periventricular Heterotopia

GO Terms for genes affiliated with Periventricular Heterotopia

Sources:
16Gene Ontology
See all sources

Cellular components related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.5YWHAE, FLNA

Products for genes affiliated with Periventricular Heterotopia

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Sources for Periventricular Heterotopia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet