MCID: PRV002
MIFTS: 43

Periventricular Nodular Heterotopia malady

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

Aliases & Classifications for Periventricular Nodular Heterotopia

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 10 45 22 23 47 12 51 24 65 36
Periventricular Heterotopia 10 45 23
Periventricular Heterotopia, X-Linked 65
 
Familial Nodular Heterotopia 23
Pnh 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant


External Ids:

Disease Ontology10 DOID:0050454
MeSH36 D054091
Orphanet51 98892
UMLS via Orphanet66 C1868720
ICD10 via Orphanet28 Q04.8
MESH via Orphanet37 D054091

Summaries for Periventricular Nodular Heterotopia

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NIH Rare Diseases:45 Periventricular heterotopia is a condition in which the 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. affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. some cases are caused by changes (mutations) in the flna gene and are inherited in an x-linked dominant manner. others are caused by mutations in the arfgef2 gene and are inherited in an autosomal recessive manner. rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. treatment is generally focused on managing recurrent seizures with medications. last updated: 10/6/2015

MalaCards based summary: Periventricular Nodular Heterotopia, also known as periventricular heterotopia, is related to paroxysmal nocturnal hemoglobinuria and hemoglobinuria. 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. Affiliated tissues include brain, fetal brain and cortex, and related mouse phenotypes are skeleton and respiratory system.

Disease Ontology:10 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

Genetics Home Reference:23 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.

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 Flna-Related Periventricular Nodular Heterotopia

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal nocturnal hemoglobinuria10.9
2hemoglobinuria10.9
3periventricular nodular heterotopia 610.8
4flna-related periventricular nodular heterotopia10.8
5heterotopia, periventricular10.7
6polymicrogyria10.7
7periventricular heterotopia with microcephaly10.6
8heterotopia, periventricular, ed variant10.6
9periventricular nodular heterotopia 310.6
10periventricular nodular heterotopia 510.6
11aplastic anemia10.6
12myelodysplastic syndrome10.5
13deficiency anemia10.5
14hemolytic anemia10.5
15van maldergem syndrome 210.5
16van maldergem syndrome 110.5
17hydrocephalus10.5
18neuronitis10.5
19cerebritis10.5
20ehlers-danlos syndrome10.5
21megalencephaly10.5
22neuronal migration disorders10.5
23paroxysmal nocturnal hemoglobinuria 210.5
24urinary system disease10.4
25c syndrome10.3
26bone marrow cancer10.3
27jacobsen syndrome10.3
28kbg syndrome10.3
29smith-magenis syndrome10.3
30melnick-needles syndrome10.3
31frontometaphyseal dysplasia10.3
32west syndrome10.3
33craniosynostosis10.3
34temporal lobe epilepsy10.3
35lissencephaly10.3
36arachnoiditis10.3
37tuberous sclerosis10.3
38childhood absence epilepsy10.3
39obstructive hydrocephalus10.3
40communicating hydrocephalus10.3
41constipation10.3
42dystonia10.3
43hemiplegia10.3
44hyperthyroidism10.3
45learning disability10.3
46syndactyly10.3
4715q11.2 microdeletion10.3
48amniotic band syndrome10.3
49arachnoid cysts10.3
50cerebellar hypoplasia10.3

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epilepsy Phenome/Genome ProjectActive, not recruitingNCT00552045

Search NIH Clinical Center for Periventricular Nodular Heterotopia


Cochrane evidence based reviews: 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 Heterotopia22 24

Anatomical Context for Periventricular Nodular Heterotopia

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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

33
Brain, Fetal brain, Cortex, Temporal lobe, Lung

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4DCHS1, ELN, EMX2, FAT4, FLNA, FLNB
2MP:00053888.2DCHS1, ELN, EMX2, FAT4, FLNA, SIX3
3MP:00107687.1ARFGEF2, DCHS1, DCX, ELN, EMX2, FAT4
4MP:00036316.7ARFGEF2, CALB2, DCHS1, DCX, EMX2, FAT4

Publications for Periventricular Nodular Heterotopia

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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 100)
idTitleAuthorsYear
1
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. (26340046)
2015
2
Concurrent neurodegenerative pathologies in periventricular nodular heterotopia. (26458987)
2015
3
Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices. (25752321)
2015
4
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? (26241618)
2015
5
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. (25475607)
2015
6
Germline mosaicism in X-linked periventricular nodular heterotopia. (24906659)
2014
7
Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy. (25624936)
2014
8
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
9
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
10
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
11
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
12
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
13
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. (22076441)
2012
14
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
15
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
16
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
17
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
18
Novel cardiac findings in periventricular nodular heterotopia. (20014127)
2010
19
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
20
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
21
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
22
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
23
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
24
Periventricular nodular heterotopia. (18809025)
2008
25
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
26
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
2008
27
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
28
Bilateral periventricular nodular heterotopia with amniotic band syndrome. (17560504)
2007
29
Periventricular nodular heterotopia: A challenge for epilepsy surgery. (17134919)
2007
30
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
31
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
2006
32
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
33
Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. (16504797)
2006
34
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
35
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
36
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
37
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
38
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia. (16521297)
2005
39
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
40
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
41
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
2002
42
Periventricular nodular heterotopia: report of a pediatric series. (12088088)
2002
43
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
44
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
45
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
46
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. (9932953)
1999
47
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
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:

5 (show all 31)
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.720+2T> Csingle nucleotide variantPathogenicGRCh37Chr X, 153596007: 153596007
3FLNANM_001110556.1(FLNA): c.623-3C> Gsingle nucleotide variantPathogenicrs398123622GRCh37Chr X, 153596109: 153596109
4FLNANM_001110556.1(FLNA): c.373+1G> Asingle nucleotide variantPathogenicGRCh38Chr X, 154370872: 154370872
5FLNANM_001110556.1(FLNA): c.287_291delGGCCCdeletionPathogenicGRCh37Chr X, 153599323: 153599327
6FLNANM_001110556.1(FLNA): c.1966C> T (p.Leu656Phe)single nucleotide variantPathogenicrs137853311GRCh37Chr X, 153592950: 153592950
7FLNANM_001110556.1(FLNA): c.6915C> Gsingle nucleotide variantPathogenicrs781910090GRCh37Chr X, 153580057: 153580057
8FLNANM_001110556.1(FLNA): c.245A> T (p.Glu82Val)single nucleotide variantPathogenicrs28935169GRCh37Chr X, 153599369: 153599369
9FLNANM_001110556.1(FLNA): c.760G> A (p.Glu254Lys)single nucleotide variantPathogenicrs28935470GRCh37Chr X, 153595873: 153595873
10FLNAFLNA, 1-BP DEL, 2762GdeletionPathogenic
11FLNANM_001110556.1(FLNA): c.4147delGdeletionPathogenicGRCh38Chr X, 154359402: 154359402
12FLNANM_001110556.1(FLNA): c.116C> G (p.Ala39Gly)single nucleotide variantPathogenicrs137853313GRCh37Chr X, 153599498: 153599498
13FLNANM_001110556.1(FLNA): c.383C> T (p.Ala128Val)single nucleotide variantPathogenicrs137853315GRCh37Chr X, 153596449: 153596449
14FLNANM_001110556.1(FLNA): c.1923C> T (p.Gly641=)single nucleotide variantPathogenicrs80338841GRCh37Chr X, 153592993: 153592993
15FLNANM_001110556.1(FLNA): c.7757-1G> Csingle nucleotide variantPathogenicrs797044496GRCh37Chr X, 153577405: 153577405
16FLNANM_001110556.1(FLNA): c.7153C> T (p.Gln2385Ter)single nucleotide variantPathogenicrs727503931GRCh37Chr X, 153579280: 153579280
17FLNANM_001110556.1(FLNA): c.1430-1G> Tsingle nucleotide variantPathogenicrs786205177GRCh38Chr X, 154365487: 154365487
18FLNANM_001110556.1(FLNA): c.6635_6638delTCAG (p.Val2212Alafs)deletionPathogenicrs786205178GRCh37Chr X, 153580680: 153580683
19FLNANM_001110556.1(FLNA): c.1829-2A> Gsingle nucleotide variantPathogenicrs786205183GRCh38Chr X, 154364721: 154364721
20FLNANM_001110556.1(FLNA): c.2565+1G> Csingle nucleotide variantPathogenicrs786205186GRCh38Chr X, 154362417: 154362417
21FLNANM_001110556.1(FLNA): c.6355_6356delAA (p.Lys2119Valfs)deletionPathogenicrs786205201GRCh38Chr X, 154352795: 154352796
22FLNANM_001110556.1(FLNA): c.4269_4277delCCTCAACGTinsTGGC (p.Leu1424Glyfs)indelPathogenicrs797044690GRCh37Chr X, 153587640: 153587648
23FLNANM_001110556.1(FLNA): c.4778_4779insAA (p.Thr1594Argfs)insertionPathogenicrs786200973GRCh37Chr X, 153585968: 153585969
24FLNANM_001110556.1(FLNA): c.5854delG (p.Val1952Serfs)deletionPathogenicrs797044724GRCh37Chr X, 153581928: 153581928
25FLNANM_001110556.1(FLNA): c.7896G> A (p.Trp2632Ter)single nucleotide variantPathogenicrs398122812GRCh37Chr X, 153577265: 153577265
26FLNANM_001110556.1(FLNA): c.2761C> T (p.Arg921Ter)single nucleotide variantPathogenicrs398123614GRCh37Chr X, 153590412: 153590412
27FLNANM_001110556.1(FLNA): c.3153dupC (p.Val1052Argfs)duplicationPathogenicrs398123616GRCh37Chr X, 153589730: 153589730
28FLNANM_001110556.1(FLNA): c.42delC (p.Ala15Argfs)deletionPathogenicrs398123619GRCh37Chr X, 153599572: 153599572
29FLNANM_001110556.1(FLNA): c.4447_4448insAT (p.Leu1483Tyrfs)insertionPathogenicrs398123620GRCh37Chr X, 153587378: 153587379
30FLNANM_001110556.1(FLNA): c.4543C> T (p.Arg1515Ter)single nucleotide variantPathogenicrs186214592GRCh37Chr X, 153586868: 153586868
31FLNANM_001110556.1(FLNA): c.5132_5133delTCinsAA (p.Phe1711Ter)indelPathogenicrs398123621GRCh37Chr X, 153583277: 153583278

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
110.0PAFAH1B1, RELN
29.8DCX, PAFAH1B1, RELN
39.5DCX, FLNA, FLNB, PAFAH1B1
4
Show member pathways
9.4FLNA, FLNB, TUBA3E

GO Terms for genes affiliated with Periventricular Nodular Heterotopia

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cochlea developmentGO:009010210.4DCHS1, PAFAH1B1
2ossification involved in bone maturationGO:004393110.4DCHS1, FAT4
3positive regulation of dendritic spine morphogenesisGO:006100310.4PAFAH1B1, RELN
4layer formation in cerebral cortexGO:002181910.4PAFAH1B1, RELN
5hippo signalingGO:003532910.4DCHS1, FAT4
6neuron migrationGO:000176410.0DCX, PAFAH1B1, RELN
7cell proliferation in forebrainGO:002184610.0EMX2, SIX3
8actin cytoskeleton organizationGO:00300369.7FLNA, FLNB, PAFAH1B1
9cerebral cortex developmentGO:00219878.9EMX2, FAT4, PAFAH1B1, RELN
10brain developmentGO:00074208.8DCX, EMX2, PAFAH1B1, RELN, SIX3

Sources for Periventricular Nodular Heterotopia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet