MCID: PRV002
MIFTS: 41

Periventricular Nodular Heterotopia malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

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 periventricular heterotopia, is related to periventricular nodular heterotopia 6 and west syndrome. 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, fetal brain and cortex, and related mouse phenotypes are reproductive system and behavior/neurological.

Disease Ontology:9 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

Aliases & Classifications for Periventricular Nodular Heterotopia

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Sources:
9Disease Ontology, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Periventricular Nodular Heterotopia, Aliases & Descriptions:

Name: Periventricular Nodular Heterotopia 9 20 21 11 43 47 22 60
Periventricular Heterotopia 9 21
 
Periventricular Heterotopia, X-Linked 60
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):

47
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant


External Ids:

Disease Ontology9 DOID:0050454
MeSH33 D054091
Orphanet47 98892
MESH via Orphanet34 D054091
ICD10 via Orphanet26 Q04.8
UMLS via Orphanet61 C1868720

Related Diseases for Periventricular Nodular Heterotopia

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Diseases in the Periventricular Nodular Heterotopia family:

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

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

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 631.3ERMARD, C6orf7
2west syndrome30.9PAFAH1B1, FLNA
3cerebellar hypoplasia30.7DCX, PAFAH1B1, RELN
4ehlers-danlos syndrome30.7FLNA, ELN
5mental retardation30.4RELN, STS, DCX, FLNA, ELN
6lissencephaly29.9RELN, PAFAH1B1, DCX, EMX2, GPR56, FLNA
7polymicrogyria10.7
8periventricular nodular heterotopia 310.6
9periventricular nodular heterotopia 510.6
10periventricular heterotopia with microcephaly10.6
11heterotopia, periventricular10.6
12hydrocephalus10.5
13neuronitis10.5
14cerebritis10.5
15x-linked periventricular heterotopia10.5
16neuronal migration disorders10.5
17lissencephaly 110.4PAFAH1B1
18heterotopia, periventricular, ed variant10.4
19van maldergem syndrome 210.3
20van maldergem syndrome 110.3
21jacobsen syndrome10.3
22kbg syndrome10.3
23smith-magenis syndrome10.3
24melnick-needles syndrome10.3
25frontometaphyseal dysplasia10.3
26craniosynostosis10.3
27temporal lobe epilepsy10.3
28childhood absence epilepsy10.3
29tuberous sclerosis10.3
30arachnoiditis10.3
31obstructive hydrocephalus10.3
32communicating hydrocephalus10.3
33constipation10.3
34dystonia10.3
35hemiplegia10.3
36learning disability10.3
37syndactyly10.3
38amniotic band syndrome10.3
39arachnoid cysts10.3
40encephalocele10.3
41left ventricular noncompaction10.3
42limb reduction defect10.3
43headache10.3
44lissencephaly, x-linked10.3DCX, PAFAH1B1
45fragile x syndrome10.2
46cataract10.2
47ectodermal dysplasia10.2
48dyslexia10.2
49baraitser-winter syndrome10.2
50agenesis of the corpus callosum10.2

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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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:

31
Brain, Fetal brain, Cortex, Lung, Temporal lobe

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

35
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 96)
idTitleAuthorsYear
1
Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices. (25752321)
2015
2
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. (25475607)
2015
3
Germline mosaicism in X-linked periventricular nodular heterotopia. (24906659)
2014
4
Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy. (25624936)
2014
5
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
6
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
7
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
8
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
9
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
10
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. (22076441)
2012
11
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
12
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
13
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
14
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
2012
15
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
16
Novel cardiac findings in periventricular nodular heterotopia. (20014127)
2010
17
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
18
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
19
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
20
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
21
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
22
Periventricular nodular heterotopia. (18809025)
2008
23
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
24
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
2008
25
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
26
Bilateral periventricular nodular heterotopia with amniotic band syndrome. (17560504)
2007
27
Periventricular nodular heterotopia: A challenge for epilepsy surgery. (17134919)
2007
28
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
29
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
2006
30
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
31
Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. (16504797)
2006
32
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
33
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
34
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
35
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
36
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia. (16521297)
2005
37
A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. (16060947)
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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Clinvar genetic disease variations for Periventricular Nodular Heterotopia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FLNANM_001110556.1(FLNA): c.544C> T (p.Gln182Ter)single nucleotide variantPathogenicrs137853310GRCh37Chr X, 153596288: 153596288
2FLNANM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe)single nucleotide variantPathogenicrs137853311GRCh37Chr X, 153592950: 153592950
3FLNANM_001110556.1(FLNA): c.245A> T (p.Glu82Val)single nucleotide variantPathogenicrs28935169GRCh37Chr X, 153599369: 153599369
4FLNANM_001110556.1(FLNA): c.1923C> T (p.Gly641=)single nucleotide variantPathogenicrs80338841GRCh37Chr X, 153592993: 153592993
5FLNANM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter)single nucleotide variantPathogenicrs398122812GRCh37Chr X, 153577265: 153577265

Expression for genes affiliated with Periventricular Nodular Heterotopia

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9PAFAH1B1, RELN
29.7DCX, PAFAH1B1, RELN
3
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.5FLNA, FLNB, RELN
49.3DCX, FLNA, FLNB, PAFAH1B1

Compounds for genes affiliated with Periventricular Nodular Heterotopia

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
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Compounds related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calcium43 49 24 1211.7DCX, FLNA, PAFAH1B1, ELN, RELN, STS
2serine438.4DCX, FLNA, PAFAH1B1, ELN, RELN, STS

GO Terms for genes affiliated with Periventricular Nodular Heterotopia

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Cellular components related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:00058759.7PAFAH1B1, DCX
2cytosolGO:00058298.7ARFGEF2, GSTA2, PAFAH1B1, FLNB, FLNA, DCX

Biological processes related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1layer formation in cerebral cortexGO:00218199.9GPR56, PAFAH1B1
2neuron migrationGO:00017649.7RELN, DCX, PAFAH1B1
3skeletal muscle tissue developmentGO:00075199.6FLNB, ELN
4hippocampus developmentGO:00217669.6RELN, PAFAH1B1
5brain developmentGO:00074209.4RELN, DCX, GPR56

Molecular functions related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.7ELN, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet