MCID: PRV012
MIFTS: 46

Periventricular Heterotopia malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases categories

Summaries for Periventricular Heterotopia

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect, eeg anomalies and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Periventricular Heterotopia is FLNA (filamin A, alpha), and among its related pathways are Salmonella infection and SMAD Signaling Network. Affiliated tissues include brain, cortex and pituitary, and related mouse phenotypes are craniofacial and mortality/aging.

Description from OMIM:48 300049,608097,608098,612881,615544

Aliases & Classifications for Periventricular Heterotopia

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22Genetics Home Reference, 50Orphanet, 63UMLS, 48OMIM, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 22
periventricular nodular heterotopia 22 50 63
periventricular heterotopia, x-linked 63
periventricular laminar heterotopia 63
familial nodular heterotopia 22
nodular neuronal heterotopia 50
heterotopia, periventricular 48


External Ids:

ICD10 via Orphanet27 Q04.8
UMLS via Orphanet64 C1868720
MESH via Orphanet37 D054091

Related Diseases for Periventricular Heterotopia

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18GeneCards, 19GeneDecks
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Diseases in the Periventricular Heterotopia family:

Heterotopia, Periventricular, Ed Variant

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia32.0FLNA, ARFGEF2
2lissencephaly30.5FLNA, YWHAE
3hydrocephalus30.3FLNA, NAPA
4skeletal dysplasias30.2FLNA, FLNB
5x-linked periventricular heterotopia10.8
6cerebritis10.5
7megalencephaly10.5
8neuronal migration disorders10.5
9periventricular nodular heterotopia 310.5
10periventricular nodular heterotopia 510.5
11periventricular nodular heterotopia 610.5
12ehlers-danlos syndrome10.4
13periventricular heterotopia, autosomal recessive10.4
14periventricular heterotopia, ehlers-danlos variant10.4
15neuronitis10.3
16periventricular heterotopia with microcephaly10.3
17heterotopia, periventricular, ed variant10.3
18childhood absence epilepsy10.3
19kbg syndrome10.3
20tuberous sclerosis10.3
21temporal lobe epilepsy10.3
22syndactyly10.3
23obstructive hydrocephalus10.3
24communicating hydrocephalus10.3
25constipation10.3
26craniosynostosis10.3
27learning disability10.3
28pterygium10.3
29williams syndrome10.3
30amniotic band syndrome10.3
31bilateral perisylvian polymicrogyria10.3
32cerebellar hypoplasia10.3
33frontometaphyseal dysplasia10.3
34frontonasal dysplasia10.3
35jacobsen syndrome10.3
36left ventricular noncompaction10.3
37limb reduction defect10.3
38headache10.3
39van maldergem syndrome 210.3
40van maldergem syndrome 110.3
41dyslexia10.2
42west syndrome10.2
43fragile x syndrome10.2
44cataract10.2
45polymicrogyria10.2
46x-linked protoporphyria10.2
47baraitser-winter syndrome10.2
48ectodermal dysplasia10.2
49pachygyria10.2
50subcortical band heterotopia10.2

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



Diseases related to periventricular heterotopia

Symptoms for Periventricular Heterotopia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300049

Clinical features from OMIM:

300049,608097,608098,612881,615544

Symptoms:

50
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal dominant inheritance

Drugs & Therapeutics for Periventricular Heterotopia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Periventricular Heterotopia

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34MalaCards
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MalaCards organs/tissues related to Periventricular Heterotopia:

34
Brain, Cortex, Pituitary

Animal Models for Periventricular Heterotopia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Periventricular Heterotopia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.4NAPA, FLNA, FLNB, HESX1
2MP:00107687.7YWHAE, NAPA, FLNA, FLNB, HESX1, ARFGEF2
3MP:00036317.6YWHAE, NAPA, FLNA, FLNB, HESX1, ARFGEF2

Publications for Periventricular Heterotopia

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53PubMed
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Articles related to Periventricular Heterotopia:

(show all 47)
idTitleAuthorsYear
1
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. (23032111)
2013
2
Neurological picture. Periventricular heterotopia in refractory epilepsy. (23715917)
2013
3
Neuropsychiatric disease in patients with periventricular heterotopia. (23487190)
2013
4
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia. (23240987)
2013
5
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (24056535)
2013
6
Integration of gray matter nodules into functional cortical circuits in periventricular heterotopia. (24090774)
2013
7
Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease. (24278701)
2012
8
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. (22678982)
2012
9
Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia. (22740120)
2012
10
Periventricular heterotopia: identifying homogeneity among heterogeneity. (22914843)
2012
11
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. (22315185)
2012
12
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males. (21484998)
2011
13
Periventricular heterotopia in common microdeletion syndromes. (20648244)
2010
14
A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. (19477093)
2010
15
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. (19635726)
2010
16
Mutation in PQBP1 is associated with periventricular heterotopia. (20886605)
2010
17
Electric stimulation of periventricular heterotopia: participation in higher cerebral functions. (19084612)
2009
18
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. (19073947)
2009
19
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. (18996916)
2009
20
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. (19289478)
2009
21
Functional interactions in brain networks underlying epileptic seizures in bilateral diffuse periventricular heterotopia. (18032101)
2008
22
Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p. (18243084)
2008
23
Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case. (17621503)
2007
24
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. (16320251)
2006
25
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. (16684786)
2006
26
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. (16417552)
2006
27
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. (16596669)
2006
28
Periventricular heterotopia with complete agenesis of the corpus callosum : a case report. (16906346)
2006
29
Periventricular heterotopia in fragile X syndrome. (16924033)
2006
30
Periventricular heterotopia. (15996530)
2005
31
Filamin A mutations cause periventricular heterotopia with Ehlers- Danlos syndrome. (15668422)
2005
32
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. (16303888)
2005
33
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. (15165674)
2004
34
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (15249610)
2004
35
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. (15459826)
2004
36
Autosomal recessive form of periventricular heterotopia. (12682315)
2003
37
Periventricular heterotopia associated with chromosome 5p anomalies. (12654978)
2003
38
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? (12372734)
2002
39
Cortical periventricular heterotopia with ectodermal dysplasia. (12457413)
2002
40
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. (11914408)
2002
41
Periventricular heterotopia may result from radial glial fiber disruption. (11556542)
2001
42
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. (10364512)
1999
43
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. (9883725)
1998
44
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. (8562093)
1996
45
Hemimegaloencephaly with periventricular heterotopia--case report. (7526246)
1994
46
Periventricular heterotopia and epilepsy. (8290091)
1994
47
X-Linked Periventricular Heterotopia (20301392)
1993

Variations for Periventricular Heterotopia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Periventricular Heterotopia:

65
id Symbol AA change Variation ID SNP ID
1FLNAp.Leu656PheVAR_012834
2FLNAp.Glu82ValVAR_015699rs28935169
3FLNAp.Met102ValVAR_031305
4FLNAp.Ser149PheVAR_031307
5FLNAp.Val528MetVAR_031309rs143873938

Clinvar genetic disease variations for Periventricular Heterotopia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.544C> T (p.Gln182Ter)single nucleotide variantPathogenicrs137853310GRCh37Chr X, 153596288: 153596288
2FLNAFLNA, IVS4DS, T-C, +2single nucleotide variantPathogenic
3FLNAFLNA, IVS3AS, C-G, -3single nucleotide variantPathogenic
4FLNAFLNA, IVS2DS, G-A, +1single nucleotide variantPathogenic
5FLNAFLNA, 5-BP DEL, NT287deletionPathogenic
6FLNANM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe)single nucleotide variantPathogenicrs137853311GRCh37Chr X, 153592950: 153592950
7FLNAFLNA, 5915C-Gsingle nucleotide variantPathogenic
8FLNANM_001110556.1(FLNA): c.245A> T (p.Glu82Val)single nucleotide variantPathogenicrs28935169GRCh37Chr X, 153599369: 153599369
9FLNANM_001110556.1(FLNA): c.1923C> T (p.Gly641=)single nucleotide variantPathogenicrs80338841GRCh37Chr X, 153592993: 153592993
10FLNANM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter)single nucleotide variantPathogenicrs398122812GRCh37Chr X, 153577265: 153577265

Expression for genes affiliated with Periventricular Heterotopia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Periventricular Heterotopia

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Pathways for genes affiliated with Periventricular Heterotopia

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51PathCards, 31KEGG, 54QIAGEN, 61Thomson Reuters
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Pathways related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6FLNB, FLNA
29.6FLNB, FLNA
3
Show member pathways
9.6FLNB, FLNA

Compounds for genes affiliated with Periventricular Heterotopia

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GO Terms for genes affiliated with Periventricular Heterotopia

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17Gene Ontology
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Cellular components related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1trans-Golgi networkGO:0058029.8FLNA, ARFGEF2
2extracellular vesicular exosomeGO:0700628.2NAPA, FLNA, FLNB, YWHAE
3cytosolGO:0058298.0NAPA, ARFGEF2, FLNB, FLNA, YWHAE

Products for genes affiliated with Periventricular Heterotopia

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  • Antibodies
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  • Antibodies

Sources for Periventricular Heterotopia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet