MCID: PRV002
MIFTS: 37

Periventricular Nodular Heterotopia malady

Blood category

Summaries for Periventricular Nodular Heterotopia

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47OMIM, 33MalaCards
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MalaCards: Periventricular Nodular Heterotopia, also known as paroxysmal nocturnal hemoglobinuria, is related to polymicrogyria and mental retardation. An important gene associated with Periventricular Nodular Heterotopia is FLNA (filamin A, alpha), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Cytoskeletal Signaling. The compound serine have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and cortex, and related mouse phenotypes are reproductive system and behavior/neurological.

Description from OMIM:47 608097,300049,300537

Aliases & Classifications for Periventricular Nodular Heterotopia

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

periventricular nodular heterotopia 8 20 22 10 45 61
paroxysmal nocturnal hemoglobinuria 61


External Ids:

Disease Ontology8 DOID:0050454
MeSH35 D054091

Related Diseases for Periventricular Nodular Heterotopia

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17GeneCards, 18GeneDecks
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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 119)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria30.8GPR56
2mental retardation30.6ELN, TSC2, RELN, DCX, FLNA, STS
3cerebellar hypoplasia30.4DCX, RELN, PAFAH1B1
4lissencephaly30.4PAFAH1B1, GPR56, RELN, EMX2, DCX, FLNA
5paroxysmal nocturnal hemoglobinuria11.7
6hemoglobinuria11.7
7periventricular heterotopia11.3
8aplastic anemia11.0
9hemoglobin so11.0
10paroxysmal nocturnal hemoglobinuria, somatic10.9
11hemoglobin d disease10.8
12n syndrome10.8
13acute leukemia10.8
14hemoglobin c disease10.7
15thrombocytopenia10.7
16venous thrombosis10.7
17paroxysmal nocturnal hemoglobinuria 210.7
18hemoglobin e disease10.6
19heparin-induced thrombocytopenia10.6
20myelodysplastic syndromes10.6
21stroke, ischemic10.5
22hemosiderosis10.5
23pancytopenia10.5
24protein c deficiency10.5
25hepatic vein thrombosis10.5
26ehlers–danlos syndrome10.4
27x-linked periventricular heterotopia10.4
28megalencephaly10.4
29periventricular nodular heterotopia 310.4
30periventricular nodular heterotopia 510.4
31periventricular nodular heterotopia 610.4
32antiphospholipid syndrome10.4
33patent foramen ovale10.4
34fanconi syndrome10.4
35splenic infarction10.4
36thymoma10.4
37sickle cell disease10.4
38myeloproliferative disorder10.4
39sickle cell - hemoglobin d disease10.4
40sickle cell - hemoglobin c disease10.4
41hematopoietic stem cell transplantation10.4
42childhood absence epilepsy10.3
43tuberous sclerosis10.3
44temporal lobe epilepsy10.3
45syndactyly10.3
46west syndrome10.3
47obstructive hydrocephalus10.3
48williams syndrome10.3
49x-linked protoporphyria10.3
50amniotic band syndrome10.3

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



Diseases related to periventricular nodular heterotopia

Clinical Features for Periventricular Nodular Heterotopia

Sources:
47OMIM
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Clinical features from OMIM:

608097,300049,300537

Drugs & Therapeutics for Periventricular Nodular Heterotopia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Periventricular Nodular Heterotopia

Drug clinical trials:

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Search NIH Clinical Center for Periventricular Nodular Heterotopia

Search CenterWatch for Periventricular Nodular Heterotopia

Genetic Tests for Periventricular Nodular Heterotopia

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

33
Brain, Lung, Cortex, Temporal lobe

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1FLNA, DCX, EMX2, PCYT1B, RELN, PAFAH1B1
2MP:00053868.1FLNA, DCX, EMX2, RELN, GPR56, PAFAH1B1
3MP:00036317.4TSC2, ARFGEF2, FLNB, FLNA, DCX, EMX2

Publications for Periventricular Nodular Heterotopia

Sources:
51PubMed
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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
2
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
3
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
4
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
5
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
6
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
7
FLNA genomic rearrangements cause periventricular nodular heterotopia. (22238415)
2012
8
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. (22366253)
2012
9
Cerebro-cerebellar functional connectivity profile of an epilepsy patient with periventricular nodular heterotopia. (22542195)
2012
10
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
11
Periventricular nodular heterotopia and cardiovascular defects. (22196066)
2011
12
Radiofrequency lesioning for epileptogenic periventricular nodular heterotopia: a rational approach. (21899532)
2011
13
Initiation of epileptiform activity in a rat model of periventricular nodular heterotopia. (21933177)
2011
14
Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. (21907895)
2011
15
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
16
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
17
FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia. (20844545)
2010
18
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
19
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. (19917821)
2009
20
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
21
Periventricular nodular heterotopia. (18809025)
2008
22
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
2008
23
Periventricular nodular heterotopia and epilepsy. (18808564)
2008
24
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. (18925681)
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
De Morsier syndrome associated with periventricular nodular heterotopia: case report. (17876417)
2007
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
Periventricular nodular heterotopia and Williams syndrome. (16691586)
2006
33
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
34
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia. (16521297)
2005
35
Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. (16087931)
2005
36
The role of periventricular nodular heterotopia in epileptogenesis. (15659421)
2005
37
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
38
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
2002
39
Periventricular nodular heterotopia: report of a pediatric series. (12088088)
2002
40
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
41
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
42
Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities. (11019794)
2000
43
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. (9932953)
1999
44
Male monozygotic twins discordant for periventricular nodular heterotopia and epilepsy. (9952275)
1999
45
Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly. (10454233)
1999
46
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. (9710025)
1998
47
Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis. (10933474)
1998
48
Periventricular nodular heterotopia: epileptogenic findings. (9579917)
1997
49
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. (9339687)
1997
50
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996

Genetic Variations for Periventricular Nodular Heterotopia

Expression for genes affiliated with Periventricular Nodular Heterotopia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PAFAH1B1, RELN, DCX
29.4PAFAH1B1, DCX, FLNA, FLNB

Compounds for genes affiliated with Periventricular Nodular Heterotopia

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45Novoseek
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Compounds related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine458.6ELN, TSC2, PAFAH1B1, RELN, DCX, FLNA

GO Terms for genes affiliated with Periventricular Nodular Heterotopia

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16Gene Ontology
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Cellular components related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:00587510.1PAFAH1B1, DCX
2cell cortexGO:0059389.3PAFAH1B1, FLNA, FLNB

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

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:0017649.8PAFAH1B1, RELN, DCX
2layer formation in cerebral cortexGO:0218199.6PAFAH1B1, GPR56
3brain developmentGO:0074209.2RAB3GAP1, GPR56, RELN, DCX

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.9ELN, GPR56

Products for genes affiliated with Periventricular Nodular Heterotopia

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Sources for Periventricular Nodular 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