MCID: PRV002
MIFTS: 46

Periventricular Nodular Heterotopia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Periventricular Nodular Heterotopia

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 11 46 23 24 13 52 25 48 37 66
Periventricular Heterotopia 11 46 24 25
Periventricular Heterotopia, X-Linked 66
 
Paroxysmal Nocturnal Hemoglobinuria 66
Familial Nodular Heterotopia 24
Pnh 23

Characteristics:

Orphanet epidemiological data:

52
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant

Classifications:



External Ids:

Disease Ontology11 DOID:0050454
MeSH37 D054091
Orphanet52 ORPHA98892
SNOMED-CT60 448227009
ICD10 via Orphanet29 Q04.8
MESH via Orphanet38 D054091
UMLS via Orphanet67 C1868720

Summaries for Periventricular Nodular Heterotopia

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NIH Rare Diseases:46 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 periventricular nodular heterotopia 6 and flna-related periventricular nodular heterotopia, and has symptoms including chyluria, pneumatouria and traumatic hematuria. An important gene associated with Periventricular Nodular Heterotopia is ERMARD (ER Membrane Associated RNA Degradation), and among its related pathways are Lissencephaly gene (LIS1) in neuronal migration and development and Regulation of CFTR activity (norm and CF). Affiliated tissues include brain, fetal brain and cortex, and related mouse phenotypes are respiratory system and growth/size/body region.

Disease Ontology:11 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

Genetics Home Reference:24 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 81)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 612.5
2flna-related periventricular nodular heterotopia12.5
3periventricular nodular heterotopia 312.3
4periventricular nodular heterotopia 512.3
5periventricular heterotopia with microcephaly11.9
6heterotopia, periventricular11.8
7paroxysmal nocturnal hemoglobinuria11.8
8heterotopia, periventricular, ed variant11.4
9hemoglobinuria10.7
10celiac trunk compression syndrome10.6DCHS1, FLNA
11epilepsy10.6
12interstitial nephritis10.6ELN, FLNA
13transient pseudohypoaldosteronism10.5DCHS1, FAT4
14synpolydactyly10.5DCHS1, FAT4
15boomerang dysplasia10.5FLNA, FLNB
16van maldergem syndrome 210.4
17van maldergem syndrome 110.4
18polymicrogyria10.4
19dfnx1 nonsyndromic hearing loss and deafness10.2DCX, PAFAH1B1
20noonan syndrome 1010.2DCX, PAFAH1B1
21paroxysmal nocturnal hemoglobinuria, somatic10.2
22hydrocephalus10.2
23ehlers-danlos syndrome10.2
24cerebritis10.2
25neuronitis10.2
26megalencephaly10.2
27neuronal migration disorders10.2
28mental retardation, x-linked, syndromic 1510.2DCX, PAFAH1B1
29atrioventricular septal defect10.1FLNA, FLNB
30dcma syndrome10.1DCX, PAFAH1B1
31aplastic anemia10.1
32leukemia10.1
33mixed receptive-expressive language disorder10.1ARFGEF2, SIX3, SRPX2
34myopathy with deficiency of iron-sulfur cluster assembly enzyme10.1DCX, PAFAH1B1
35jacobsen syndrome10.0
36kbg syndrome10.0
37smith-magenis syndrome10.0
38melnick-needles syndrome10.0
39frontometaphyseal dysplasia10.0
40cerebellar hypoplasia10.0
41west syndrome10.0
42craniosynostosis10.0
43temporal lobe epilepsy10.0
44lissencephaly10.0
45left ventricular noncompaction10.0
46hemiplegia10.0
47syndactyly10.0
48arachnoiditis10.0
49tuberous sclerosis10.0
50obstructive hydrocephalus10.0

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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UMLS symptoms related to Periventricular Nodular Heterotopia:


chyluria, pneumatouria, traumatic hematuria, mahler sign

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 Heterotopia25 23
2 Periventricular Heterotopia25

Anatomical Context for Periventricular Nodular Heterotopia

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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8DCHS1, EMX2, FAT4, FLNA, FLNB, SIX3
2MP:00053787.2ARFGEF2, DCHS1, DCX, EMX2, FAT4, FLNA
3MP:00036316.1ARFGEF2, 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 106)
idTitleAuthorsYear
1
Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. (27355897)
2016
2
Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. (27461957)
2016
3
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. (26340046)
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
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
7
Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report. (23266946)
2014
8
Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. (24518890)
2014
9
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
10
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
11
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
12
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
13
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. (23636902)
2013
14
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. (23064591)
2013
15
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
16
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
17
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. (23571663)
2012
18
FLNA genomic rearrangements cause periventricular nodular heterotopia. (22238415)
2012
19
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. (22366253)
2012
20
Successful treatment of epilepsy by resection of periventricular nodular heterotopia. (23254583)
2012
21
Radiofrequency lesioning for epileptogenic periventricular nodular heterotopia: a rational approach. (21899532)
2011
22
Initiation of epileptiform activity in a rat model of periventricular nodular heterotopia. (21933177)
2011
23
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
24
Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. (20358608)
2010
25
FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia. (20844545)
2010
26
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
27
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
2008
28
Alpha-[11C]methyl-L-tryptophan uptake in patients with periventricular nodular heterotopia and epilepsy. (18363710)
2008
29
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
30
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
31
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
32
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
33
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
34
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (16434687)
2006
35
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
36
A distinct asymmetrical pattern of cortical malformation: large unilateral malformation of cortical development with contralateral periventricular nodular heterotopia in three pediatric cases. (16060947)
2005
37
Intrinsic epileptogenicity of an isolated periventricular nodular heterotopia. (16087931)
2005
38
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
39
Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms. (15146004)
2004
40
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
2002
41
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
42
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
43
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. (11100490)
2000
44
Unilateral periventricular nodular heterotopia associated with diffuse areas of cerebral functional abnormalities. (11019794)
2000
45
Periventricular nodular heterotopia and childhood absence epilepsy. (10328284)
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
Periventricular nodular heterotopia: epileptogenic findings. (9579917)
1997
49
Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection. (9153529)
1997
50
Periventricular nodular heterotopia. (8145944)
1994

Variations for Periventricular Nodular Heterotopia

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Copy number variations for Periventricular Nodular Heterotopia from CNVD:

6 (show all 22)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1137431127800000Deletionperiventricular nodular heterotopia
2158162213050000046944323MicrodeletionAP001042.1periventricular nodular heterotopia
3158165213050000046944323MicrodeletionBRWD1periventricular nodular heterotopia
4158168213050000046944323MicrodeletionC21orf24periventricular nodular heterotopia
5158171213050000046944323MicrodeletionDSCR10periventricular nodular heterotopia
6158174213050000046944323MicrodeletionDSCR3periventricular nodular heterotopia
7158177213050000046944323MicrodeletionDSCR4periventricular nodular heterotopia
8158180213050000046944323MicrodeletionDSCR6periventricular nodular heterotopia
9158183213050000046944323MicrodeletionDSCR8periventricular nodular heterotopia
10158186213050000046944323MicrodeletionDSCR9periventricular nodular heterotopia
11158189213050000046944323MicrodeletionDYRK1Aperiventricular nodular heterotopia
12158192213050000046944323MicrodeletionERGperiventricular nodular heterotopia
13158195213050000046944323MicrodeletionETS2periventricular nodular heterotopia
14158198213050000046944323MicrodeletionHLCSperiventricular nodular heterotopia
15158201213050000046944323MicrodeletionKCNJ15periventricular nodular heterotopia
16158204213050000046944323MicrodeletionKCNJ6periventricular nodular heterotopia
17158207213050000046944323MicrodeletionPIGPperiventricular nodular heterotopia
18158210213050000046944323MicrodeletionPSMG1periventricular nodular heterotopia
19158214213050000046944323MicrodeletionTTC3periventricular nodular heterotopia
20160229221180000024300000Deletionperiventricular nodular heterotopia
2122769077180000077400000Deletionperiventricular nodular heterotopia
222601920146900000154913754Copy numberperiventricular nodular heterotopia

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 pathwaysScoreTop Affiliating Genes
19.7DCX, PAFAH1B1
2
Show member pathways
9.5FLNA, FLNB, TUBA1A
38.8DCX, FLNA, FLNB, PAFAH1B1, TUBA1A

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
1hippo signalingGO:003532910.3DCHS1, FAT4
2ossification involved in bone maturationGO:004393110.3DCHS1, FAT4
3condensed mesenchymal cell proliferationGO:007213710.3DCHS1, FAT4
4cochlea developmentGO:009010210.2DCHS1, PAFAH1B1
5nephron developmentGO:007200610.1DCHS1, FAT4
6layer formation in cerebral cortexGO:002181910.0DCX, PAFAH1B1
7regulation of ARF protein signal transductionGO:003201210.0ARFGEF2, GBF1
8cerebral cortex developmentGO:00219879.8EMX2, FAT4, PAFAH1B1
9cell proliferation in forebrainGO:00218469.6EMX2, SIX3
10brain developmentGO:00074208.9DCX, EMX2, PAFAH1B1, SIX3

Molecular functions related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ARF guanyl-nucleotide exchange factor activityGO:00050869.6ARFGEF2, GBF1

Sources for Periventricular Nodular Heterotopia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet