MCID: PRV002
MIFTS: 47

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:
65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 10 45 22 23 47 12 51 36 24 65
Periventricular Heterotopia 10 45 23 24
Periventricular Heterotopia, X-Linked 65
 
Paroxysmal Nocturnal Hemoglobinuria 65
Familial Nodular Heterotopia 23
Pnh 22

Characteristics:

Orphanet epidemiological data:

51
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant

Classifications:



External Ids:

Disease Ontology10 DOID:0050454
Orphanet51 98892
SNOMED-CT59 448227009
ICD10 via Orphanet28 Q04.8
MESH via Orphanet37 D054091
UMLS via Orphanet66 C1868720
UMLS65 C1848213, C1868720

Summaries for Periventricular Nodular Heterotopia

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NIH Rare Diseases:45 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 mahler sign, traumatic hematuria and pneumatouria. An important gene associated with Periventricular Nodular Heterotopia is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2), and among its related pathways are Reelin signaling pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, fetal brain and cortex, and related mouse phenotypes are respiratory system and growth/size/body region.

Disease Ontology:10 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

Genetics Home Reference:23 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 82)
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
10acute generalized exanthematous pustulosis10.6DCHS1, FLNA
11renal agenesis, unilateral10.5DCHS1, FAT4
12uv-sensitive syndrome10.5DCHS1, FAT4
13familial atrial fibrillation10.5FLNA, FLNB
14van maldergem syndrome 210.4
15van maldergem syndrome 110.4
16skeleto cardiac syndrome with thrombocytopenia10.4FLNA, FLNB
17dfna2 nonsyndromic hearing loss10.4DCX, PAFAH1B1
18polymicrogyria10.4
19epilepsy, familial temporal lobe, 710.3PAFAH1B1, RELN
20hajdu-cheney syndrome10.3FLNA, FLNB
21premature ovarian failure 810.3PAFAH1B1, RELN
22tn polyagglutination syndrome, somatic10.3DCX, PAFAH1B1
23subcutaneous panniculitis-like t-cell lymphoma10.2DCX, PAFAH1B1
24paroxysmal nocturnal hemoglobinuria, somatic10.2
25pachygyria with mental retardation and seizures10.2DCX, PAFAH1B1
26hydrocephalus10.2
27ehlers-danlos syndrome10.2
28cerebritis10.2
29neuronitis10.2
30megalencephaly10.2
31neuronal migration disorders10.2
32idiopathic generalized epilepsy10.1DCX, FLNA, PAFAH1B1
33aplastic anemia10.1
34leukemia10.1
35jacobsen syndrome10.0
36kbg syndrome10.0
37smith-magenis syndrome10.0
38melnick-needles syndrome10.0
39frontometaphyseal dysplasia10.0
40west syndrome10.0
41craniosynostosis10.0
42temporal lobe epilepsy10.0
43lissencephaly10.0
44left ventricular noncompaction10.0
45hemiplegia10.0
46syndactyly10.0
47arachnoiditis10.0
48tuberous sclerosis10.0
49obstructive hydrocephalus10.0
50communicating 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:


mahler sign, traumatic hematuria, pneumatouria, chyluria

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 Heterotopia22

Anatomical Context for Periventricular Nodular Heterotopia

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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

33
Brain, Fetal brain, Cortex, T cells, Thyroid, Prostate, Endothelial

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5DCHS1, EMX2, FAT4, FLNA, FLNB, SIX3
2MP:00053787.5ARFGEF2, DCHS1, DCX, EMX2, FAT4, FLNA
3MP:00036317.4ARFGEF2, DCHS1, DCX, EMX2, FAT4, FLNA

Publications for Periventricular Nodular Heterotopia

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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. (26340046)
2015
2
Concurrent neurodegenerative pathologies in periventricular nodular heterotopia. (26458987)
2015
3
Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices. (25752321)
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
Germline mosaicism in X-linked periventricular nodular heterotopia. (24906659)
2014
7
Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy. (25624936)
2014
8
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. (24196422)
2013
9
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. (23151899)
2013
10
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. (23439715)
2013
11
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. (23348762)
2013
12
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. (22642616)
2012
13
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. (22076441)
2012
14
Deletion of filamin A in two female patients with periventricular nodular heterotopia. (22522697)
2012
15
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. (22585566)
2012
16
Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation. (22886376)
2012
17
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia. (22052819)
2011
18
Novel cardiac findings in periventricular nodular heterotopia. (20014127)
2010
19
KBG syndrome associated with periventricular nodular heterotopia. (20354438)
2010
20
Absence epilepsy and periventricular nodular heterotopia. (20637656)
2010
21
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. (24206947)
2009
22
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. (18427995)
2008
23
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. (18660478)
2008
24
Periventricular nodular heterotopia. (18809025)
2008
25
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. (18384621)
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
Bilateral periventricular nodular heterotopia with amniotic band syndrome. (17560504)
2007
28
Periventricular nodular heterotopia: A challenge for epilepsy surgery. (17134919)
2007
29
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges. (16417536)
2006
30
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (15994863)
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
Steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. (16504797)
2006
33
Filamin a, periventricular nodular heterotopia, and West syndrome. (16822260)
2006
34
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. (16835933)
2006
35
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
36
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. (15753412)
2005
37
Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia. (16521297)
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
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
40
AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. (12121323)
2002
41
Periventricular nodular heterotopia: report of a pediatric series. (12088088)
2002
42
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. (12410386)
2002
43
Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome? (11748498)
2001
44
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (11532987)
2001
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
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. (9710025)
1998
48
Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosis. (8787433)
1996
49
Periventricular nodular heterotopia. (8145944)
1994
50

Variations for Periventricular Nodular Heterotopia

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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
110.0PAFAH1B1, RELN
29.8DCX, PAFAH1B1, RELN
3
Show member pathways
9.4FLNA, FLNB, TUBA3E

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 7)
idNameGO IDScoreTop Affiliating Genes
1cochlea developmentGO:009010210.2DCHS1, PAFAH1B1
2positive regulation of dendritic spine morphogenesisGO:006100310.0PAFAH1B1, RELN
3layer formation in cerebral cortexGO:002181910.0PAFAH1B1, RELN
4heart morphogenesisGO:000300710.0DCHS1, FAT4
5cell proliferation in forebrainGO:00218469.7EMX2, SIX3
6cerebral cortex developmentGO:00219879.6EMX2, RELN
7neurogenesisGO:00220089.6DCHS1, FAT4

Sources for Periventricular Nodular Heterotopia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet