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
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 posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
4
Automated morphometric magnetic resonance imaging analysis for the detection of periventricular nodular heterotopia. (23330738)
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
FLNA genomic rearrangements cause periventricular nodular heterotopia. (22238415)
2012
10
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. (22366253)
2012
11
Cerebro-cerebellar functional connectivity profile of an epilepsy patient with periventricular nodular heterotopia. (22542195)
2012
12
Successful treatment of epilepsy by resection of periventricular nodular heterotopia. (23254583)
2012
13
Radiofrequency lesioning for epileptogenic periventricular nodular heterotopia: a rational approach. (21899532)
2011
14
Initiation of epileptiform activity in a rat model of periventricular nodular heterotopia. (21933177)
2011
15
Novel cardiac findings in periventricular nodular heterotopia. (20014127)
2010
16
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
17
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
18
Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. (20358608)
2010
19
FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia. (20844545)
2010
20
Functional MRI interactions between dysplastic nodules and overlying cortex in periventricular nodular heterotopia. (21030316)
2010
21
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. (19917821)
2009
22
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
23
Periventricular nodular heterotopia. (18809025)
2008
24
Periventricular nodular heterotopia and epilepsy. (18808564)
2008
25
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
26
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
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
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
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
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
33
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (16434687)
2006
34
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
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
Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms. (15146004)
2004
39
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
40
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
41
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. (11100490)
2000
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
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. (9710025)
1998
45
Periventricular nodular heterotopia: epileptogenic findings. (9579917)
1997
46
Bilateral periventricular nodular heterotopia. PET and MRI of a patient with focal seizures. (9031771)
1997
47
Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. (9153529)
1997
48
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. (9339687)
1997
49
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996
50
Periventricular nodular heterotopia. (8145944)
1994

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
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
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43NINDS
44Novoseek
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50PubMed
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57SNOMED-CT via Orphanet
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