MCID: PRV002
MIFTS: 39

Periventricular Nodular Heterotopia malady

Blood diseases category

Summaries for Periventricular Nodular Heterotopia

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MalaCards: Periventricular Nodular Heterotopia, also known as paroxysmal nocturnal hemoglobinuria, is related to polymicrogyria and lissencephaly. 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 cortex, brain and lung, and related mouse phenotypes are reproductive system and behavior/neurological.

Description from OMIM:46 608097,300049,300537

Aliases & Classifications for Periventricular Nodular Heterotopia

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

periventricular nodular heterotopia 8 20 22 10 44 60
paroxysmal nocturnal hemoglobinuria 60


External Ids:

Disease Ontology8 DOID:0050454
MeSH34 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 125)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria30.8GPR56
2lissencephaly30.4PAFAH1B1, GPR56, RELN, EMX2, DCX, FLNA
3hemoglobinuria11.6
4aplastic anemia11.0
5leukemia10.8
6paroxysmal nocturnal hemoglobinuria10.8
7acute leukemia10.8
8thrombocytopenia10.7
9periventricular heterotopia10.7
10paroxysmal nocturnal hemoglobinuria, somatic10.6
11retinitis10.6
12stroke, ischemic10.5
13hemosiderosis10.5
14pancytopenia10.5
15splenic infarction10.5
16hepatic vein thrombosis10.5
17complement deficiency10.5
18hemolytic anemia10.5
19hepatitis10.5
20myelofibrosis10.5
21cerebritis10.4
22neuronitis10.4
23ehlers-danlos syndrome10.4
24hydrocephalus10.4
25reading disorder10.4
26x-linked periventricular heterotopia10.4
27periventricular nodular heterotopia 310.4
28periventricular nodular heterotopia 510.4
29periventricular nodular heterotopia 610.4
30antiphospholipid syndrome10.4
31patent foramen ovale10.4
32fanconi syndrome10.4
33hepatitis a10.4
34cholangitis10.4
35chronic lymphocytic leukemia10.4
36ischemia10.4
37lymphoblastic leukemia10.4
38multiple myeloma10.4
39myeloma10.4
40papilledema10.4
41purpura10.4
42thymoma10.4
43sickle cell disease10.4
44paroxysmal nocturnal hemoglobinuria 210.4
45childhood absence epilepsy10.3
46kbg syndrome10.3
47tuberous sclerosis10.3
48temporal lobe epilepsy10.3
49syndactyly10.3
50west 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

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46OMIM
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Clinical features from OMIM:

608097,300049,300537

Drugs & Therapeutics for Periventricular Nodular Heterotopia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

32
Cortex, Brain, Lung, Temporal lobe

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

36
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

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50PubMed
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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
2
Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report. (23266946)
2014
3
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
4
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. (23636902)
2013
5
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. (23064591)
2013
6
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
7
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
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
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. (20888935)
2011
13
Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. (21907895)
2011
14
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
15
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
16
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. (19917821)
2009
17
Gray matter volumes and cognitive ability in the epileptogenic brain malformation of periventricular nodular heterotopia. (19541546)
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
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
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
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
Periventricular nodular heterotopia and Williams syndrome. (16691586)
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
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
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
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
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
41
Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities. (11019794)
2000
42
Evidence for nodular epileptogenicity and gender differences in periventricular nodular heterotopia. (9932953)
1999
43
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
1999
44
Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT. (10348206)
1999
45
Male monozygotic twins discordant for periventricular nodular heterotopia and epilepsy. (9952275)
1999
46
Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly. (10454233)
1999
47
Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis. (10933474)
1998
48
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. (9311743)
1997
49
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996
50
Familial periventricular nodular heterotopia. (8214353)
1993

Genetic Variations for Periventricular Nodular Heterotopia

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Expression for genes affiliated with Periventricular Nodular Heterotopia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Periventricular Nodular Heterotopia

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Pathways for genes affiliated with Periventricular Nodular Heterotopia

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37NCBI 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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44Novoseek
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Compounds related to Periventricular Nodular Heterotopia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine448.6ELN, 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

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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