MCID: PRV002
MIFTS: 42

Periventricular Nodular Heterotopia malady

Genetic diseases (common), Neuronal diseases, Blood diseases categories
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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 periventricular nodular heterotopia 6 and ehlers-danlos 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 cortex, brain and lung, and related mouse phenotypes are reproductive system and behavior/neurological.

Description from OMIM:47 300049,608097,300537

Aliases & Classifications for Periventricular Nodular Heterotopia

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 35MeSH
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Classifications:

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


Aliases & Descriptions:

periventricular nodular heterotopia 8 20 22 10 45 62
paroxysmal nocturnal hemoglobinuria 62


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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 630.8ERMARD, C6orf7
2ehlers-danlos syndrome30.7FLNA, ELN
3mental retardation30.6RELN, STS, DCX, FLNA, ELN
4cerebellar hypoplasia30.5DCX, PAFAH1B1, RELN
5lissencephaly30.3RELN, PAFAH1B1, DCX, EMX2, GPR56, FLNA
6periventricular heterotopia10.7
7polymicrogyria10.6
8x-linked periventricular heterotopia10.5
9neuronitis10.5
10cerebritis10.5
11hydrocephalus10.5
12megalencephaly10.5
13neuronal migration disorders10.5
14periventricular nodular heterotopia 310.5
15periventricular nodular heterotopia 510.5
16childhood absence epilepsy10.3
17kbg syndrome10.3
18tuberous sclerosis10.3
19temporal lobe epilepsy10.3
20syndactyly10.3
21west syndrome10.3
22obstructive hydrocephalus10.3
23communicating hydrocephalus10.3
24constipation10.3
25craniosynostosis10.3
26learning disability10.3
27pterygium10.3
28williams syndrome10.3
29amniotic band syndrome10.3
30bilateral perisylvian polymicrogyria10.3
31frontometaphyseal dysplasia10.3
32frontonasal dysplasia10.3
33jacobsen syndrome10.3
34left ventricular noncompaction10.3
35limb reduction defect10.3
36headache10.3
37van maldergem syndrome 210.3
38van maldergem syndrome 110.3
39subcortical laminar heterotopia10.1PAFAH1B1
40lissencephaly x-linked10.1DCX, PAFAH1B1
41infantile epileptic encephalopathy10.1PAFAH1B1, FLNA
42lissencephaly 110.0RELN, PAFAH1B1, DCX
43ganglioglioma10.0DCX, RELN
44lymphedema10.0RELN, ELN
45developmental disabilities10.0ELN, PAFAH1B1, DCX
46epilepsy syndrome10.0DCX, FLNA, PAFAH1B1, RELN
47skeletal dysplasias10.0FLNA, FLNB
48endometriosis10.0ELN, EMX2, STS
49focal epilepsy10.0GPR56, EMX2, DCX, PAFAH1B1

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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47OMIM
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Clinical features from OMIM:

300049,608097,300537

Drugs & Therapeutics for Periventricular Nodular Heterotopia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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
Cortex, Brain, Lung, Temporal lobe

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4PCYT1B, RELN, PAFAH1B1, FLNA, DCX, EMX2
2MP:00053868.3GPR56, EMX2, DCX, FLNA, FLNB, PAFAH1B1
3MP:00107688.2ARFGEF2, RELN, ELN, PAFAH1B1, FLNB, FLNA
4MP:00036318.2GPR56, ARFGEF2, RELN, PAFAH1B1, FLNB, FLNA

Publications for Periventricular Nodular Heterotopia

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52PubMed
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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 83)
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
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
5
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
6
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. (22076441)
2012
7
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
8
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
9
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
10
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
2012
11
FLNA genomic rearrangements cause periventricular nodular heterotopia. (22238415)
2012
12
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
13
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
14
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
15
Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. (20358608)
2010
16
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
17
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
18
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
19
Periventricular nodular heterotopia. (18809025)
2008
20
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
21
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
2008
22
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
23
Bilateral periventricular nodular heterotopia with amniotic band syndrome. (17560504)
2007
24
Periventricular nodular heterotopia: A challenge for epilepsy surgery. (17134919)
2007
25
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
26
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
2006
27
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
28
Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. (16504797)
2006
29
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
30
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
31
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (16434687)
2006
32
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
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
A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. (16060947)
2005
36
Periventricular nodular heterotopia with overlying polymicrogyria. (16311271)
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
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
39
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
2002
40
Periventricular nodular heterotopia: report of a pediatric series. (12088088)
2002
41
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
42
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
43
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
44
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. (11100490)
2000
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Periventricular Nodular Heterotopia:

1
id Gene Name Type Significance SNP ID Assembly Location
1TERCNR_001566.1(TERC): n.-100C> Gsingle nucleotide variantPathogenicrs199422256GRCh37Chr 3, 169482948: 169482948

Expression for genes affiliated with Periventricular Nodular Heterotopia

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 5Cell Signaling Technology
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Pathways related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0RELN, PAFAH1B1
29.7RELN, PAFAH1B1, DCX
3
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.6RELN, FLNB, FLNA
49.4DCX, FLNA, FLNB, PAFAH1B1

Compounds for genes affiliated with Periventricular Nodular Heterotopia

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 51 24 1111.8FLNA, PAFAH1B1, ELN, RELN, STS, DCX
2serine458.5STS, RELN, ELN, PAFAH1B1, FLNA, DCX

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:0058759.7PAFAH1B1, DCX
2cytosolGO:0058298.8ARFGEF2, 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
2skeletal muscle tissue developmentGO:0075199.7ELN, FLNB
3neuron migrationGO:0017649.7RELN, PAFAH1B1, DCX
4hippocampus developmentGO:0217669.7RELN, PAFAH1B1
5brain developmentGO:0074209.5GPR56, DCX, RELN

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.8ELN, GPR56

Products for genes affiliated with Periventricular Nodular Heterotopia

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Sources for Periventricular Nodular Heterotopia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet