MCID: PRV002
MIFTS: 57

Periventricular Nodular Heterotopia malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Periventricular Nodular Heterotopia

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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 based summary: Periventricular Nodular Heterotopia, also known as heterotopia, periventricular, is related to periventricular nodular heterotopia 6 and cerebellar hypoplasia, 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 Nodular Heterotopia is FLNA (filamin A, alpha), and among its related pathways are Reelin signaling pathway and Lissencephaly gene (LIS1) in neuronal migration and development. The compounds calcium and serine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and fetal brain, and related mouse phenotypes are reproductive system and behavior/neurological.

Disease Ontology:8 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

Descriptions from OMIM:46 300537, 615544, 608098, 612881, 300049 608097 more

Aliases & Classifications for Periventricular Nodular Heterotopia

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 9diseasecard, 46OMIM, 34MeSH, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Periventricular Nodular Heterotopia, Aliases & Descriptions:

Name: Periventricular Nodular Heterotopia 8 20 22 21 10 44 48 62
Heterotopia, Periventricular 9 46
Periventricular Heterotopia 8 21
Periventricular Heterotopia, X-Linked 62
 
Periventricular Laminar Heterotopia 62
Nodular Neuronal Heterotopia 48
Familial Nodular Heterotopia 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
nodular neuronal heterotopia:
Inheritance: Autosomal recessive,X-linked dominant; Age of onset: Variable
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant


External Ids:

Disease Ontology8 DOID:0050454
MeSH34 D054091
ICD10 via Orphanet26 Q04.8
MESH via Orphanet35 D054091
UMLS via Orphanet63 C1868720

Related Diseases for Periventricular Nodular Heterotopia

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Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 3 Periventricular Nodular Heterotopia 5
Periventricular Nodular Heterotopia 6

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 631.1C6orf7, ERMARD
2cerebellar hypoplasia30.8RELN, PAFAH1B1, DCX
3ehlers-danlos syndrome30.7FLNA, ELN
4mental retardation30.4DCX, FLNA, ELN, RELN, STS
5lissencephaly30.0GPR56, EMX2, DCX, FLNA, PAFAH1B1, RELN
6polymicrogyria10.7
7x-linked periventricular heterotopia10.7
8periventricular nodular heterotopia 310.6
9periventricular nodular heterotopia 510.6
10hydrocephalus10.5
11neuronitis10.5
12cerebritis10.5
13megalencephaly10.5
14neuronal migration disorders10.5
15subcortical laminar heterotopia10.4PAFAH1B1
16periventricular heterotopia, autosomal recessive10.4
17periventricular heterotopia, ehlers-danlos variant10.4
18periventricular heterotopia with microcephaly10.3
19heterotopia, periventricular, ed variant10.3
20west syndrome10.3
21craniosynostosis10.3
22temporal lobe epilepsy10.3
23kbg syndrome10.3
24obstructive hydrocephalus10.3
25childhood absence epilepsy10.3
26tuberous sclerosis10.3
27syndactyly10.3
28communicating hydrocephalus10.3
29constipation10.3
30dystonia10.3
31hemiplegia10.3
32learning disability10.3
33pterygium10.3
34smith magenis syndrome10.3
35williams syndrome10.3
36amniotic band syndrome10.3
37bilateral perisylvian polymicrogyria10.3
38frontometaphyseal dysplasia10.3
39frontonasal dysplasia10.3
40jacobsen syndrome10.3
41left ventricular noncompaction10.3
42limb reduction defect10.3
43headache10.3
44van maldergem syndrome 210.3
45van maldergem syndrome 110.3
46lissencephaly x-linked10.3DCX, PAFAH1B1
47infantile epileptic encephalopathy10.3PAFAH1B1, FLNA
48lissencephaly 110.2DCX, PAFAH1B1, RELN
49cataract10.2
50ectodermal dysplasia10.2

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



Diseases related to periventricular nodular heterotopia

Symptoms for Periventricular Nodular Heterotopia

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Symptoms by clinical synopsis from OMIM:

300049

Clinical features from OMIM:

300537,615544,608098,612881,300049,608097

Symptoms:

48
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal dominant inheritance

HPO human phenotypes related to Periventricular Nodular Heterotopia:

(show all 12)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 abnormality of neuronal migration hallmark (90%) HP:0002269
3 eeg abnormality hallmark (90%) HP:0002353
4 seizures HP:0001250
5 intellectual disability, mild HP:0001256
6 stroke HP:0001297
7 x-linked dominant inheritance HP:0001423
8 patent ductus arteriosus HP:0001643
9 bicuspid aortic valve HP:0001647
10 abnormality of neuronal migration HP:0002269
11 heterotopia HP:0002282
12 abnormality of the coagulation cascade HP:0003256

Drugs & Therapeutics for Periventricular Nodular Heterotopia

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Drug clinical trials:

Search ClinicalTrials for Periventricular Nodular Heterotopia

Search NIH Clinical Center for Periventricular Nodular Heterotopia

Genetic Tests for Periventricular Nodular Heterotopia

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Genetic tests related to Periventricular Nodular Heterotopia:

id Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia20 22

Anatomical Context for Periventricular Nodular Heterotopia

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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

32
Brain, Cortex, Fetal brain, Lung, Temporal lobe

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3PCYT1B, RELN, PAFAH1B1, FLNA, DCX, EMX2
2MP:00053868.2GPR56, EMX2, DCX, FLNA, FLNB, PAFAH1B1
3MP:00107688.1ARFGEF2, RELN, ELN, PAFAH1B1, FLNB, FLNA
4MP:00036318.0GPR56, ARFGEF2, RELN, PAFAH1B1, FLNB, FLNA

Publications for Periventricular Nodular Heterotopia

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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Germline mosaicism in X-linked periventricular nodular heterotopia. (24906659)
2014
2
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
3
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
4
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
5
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
6
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
7
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. (22076441)
2012
8
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
9
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
10
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
11
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
2012
12
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
13
Novel cardiac findings in periventricular nodular heterotopia. (20014127)
2010
14
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
15
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
16
Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. (20358608)
2010
17
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
18
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
19
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
20
Periventricular nodular heterotopia. (18809025)
2008
21
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
22
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
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
Bilateral periventricular nodular heterotopia with amniotic band syndrome. (17560504)
2007
25
Periventricular nodular heterotopia: A challenge for epilepsy surgery. (17134919)
2007
26
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
27
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
2006
28
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
29
Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. (16504797)
2006
30
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
31
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
32
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (16434687)
2006
33
Electroencephalographic recordings of focal seizures in patients affected by periventricular nodular heterotopia: role of the heterotopic nodules in the genesis of epileptic discharges. (15921241)
2005
34
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
35
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia. (16521297)
2005
36
A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. (16060947)
2005
37
Periventricular nodular heterotopia with overlying polymicrogyria. (16311271)
2005
38
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. (14988809)
2004
39
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
40
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
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
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
44
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
45
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. (9932953)
1999
46
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
1999
47
Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT. (10348206)
1999
48
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. (9710025)
1998
49
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996
50
Periventricular nodular heterotopia. (8145944)
1994

Variations for Periventricular Nodular Heterotopia

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UniProtKB/Swiss-Prot genetic disease variations for Periventricular Nodular Heterotopia:

64
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 Nodular Heterotopia:

6 (show all 14)
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
11ARFGEF2NM_006420.2(ARFGEF2): c.625G> A (p.Glu209Lys)single nucleotide variantPathogenicrs28937880GRCh37Chr 20, 47570114: 47570114
12ARFGEF2ARFGEF2, PRO81GLN, VAL83LEU, 249delAdeletionPathogenic
13ERMARDNM_001278532.1(ERMARD): c.752T> A (p.Ile251Asn)single nucleotide variantPathogenicrs398122410GRCh37Chr 6, 170169706: 170169706
14ARFGEF2NM_006420.2(ARFGEF2): c.1958+1G> Asingle nucleotide variantPathogenicrs398122523GRCh37Chr 20, 47592737: 47592737

Expression for genes affiliated with Periventricular Nodular Heterotopia

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Expression patterns in normal tissues for genes affiliated with Periventricular Nodular Heterotopia

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia.

Pathways for genes affiliated with Periventricular Nodular Heterotopia

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Pathways related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PAFAH1B1, RELN
29.7DCX, PAFAH1B1, RELN
3
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.5FLNA, FLNB, RELN
49.3DCX, FLNA, FLNB, PAFAH1B1

Compounds for genes affiliated with Periventricular Nodular Heterotopia

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 50 24 1111.7FLNA, PAFAH1B1, ELN, RELN, STS, DCX
2serine448.4STS, RELN, ELN, PAFAH1B1, FLNA, DCX

GO Terms for genes affiliated with Periventricular Nodular Heterotopia

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

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:0058759.7PAFAH1B1, DCX
2cytosolGO:0058298.7ARFGEF2, GSTA2, PAFAH1B1, FLNB, FLNA, DCX

Biological processes related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1layer formation in cerebral cortexGO:0218199.9PAFAH1B1, GPR56
2neuron migrationGO:0017649.7RELN, PAFAH1B1, DCX
3skeletal muscle tissue developmentGO:0075199.6ELN, FLNB
4hippocampus developmentGO:0217669.6RELN, PAFAH1B1
5brain developmentGO:0074209.4GPR56, DCX, RELN

Molecular functions related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.7ELN, GPR56

Products for genes affiliated with Periventricular Nodular Heterotopia

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Sources for Periventricular Nodular Heterotopia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet