PVNH
MCID: PRV002
MIFTS: 54

Periventricular Nodular Heterotopia (PVNH)

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

Aliases & Classifications for Periventricular Nodular Heterotopia

MalaCards integrated aliases for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 12 52 25 58 36 29 54 6 43 15 71
Periventricular Heterotopia 12 52 25 29 6
Pvnh 52 58
Periventricular Heterotopia, X-Linked 71
Familial Nodular Heterotopia 25
Heterotopia, Periventricular 39

Characteristics:

Orphanet epidemiological data:

58
periventricular nodular heterotopia
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050454
KEGG 36 H00270
MeSH 43 D054091
MESH via Orphanet 44 D054091
ICD10 via Orphanet 33 Q04.8
UMLS via Orphanet 72 C1868720
Orphanet 58 ORPHA98892
UMLS 71 C1848213 C1868720

Summaries for Periventricular Nodular Heterotopia

Genetics Home Reference : 25 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. Periventricular heterotopia usually becomes evident when seizures first appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some people with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have other features including more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, stomach problems, or lung disease. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels.

MalaCards based summary : Periventricular Nodular Heterotopia, also known as periventricular heterotopia, is related to periventricular nodular heterotopia 1 and van maldergem syndrome 1. An important gene associated with Periventricular Nodular Heterotopia is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and Reelin signaling pathway. Affiliated tissues include brain, fetal brain and cortex, and related phenotypes are scoliosis and gastroesophageal reflux

Disease Ontology : 12 A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.

NIH Rare Diseases : 52 Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during early development of the fetal brain. People with this condition typically develop recurrent seizures (epilepsy ) beginning in mid-adolescence. Intelligence is usually normal, but some people may have mild intellectual disability , including difficulty with reading or spelling. Less common features 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. Other cases are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with a duplication of genetic material on chromosome 5 . Treatment is generally focused on managing recurrent seizures with medications.

KEGG : 36 Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.

Related Diseases for Periventricular Nodular Heterotopia

Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7
Periventricular Nodular Heterotopia 8 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 152)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 35.7 LOC107988032 FLNA
2 van maldergem syndrome 1 33.6 FAT4 DCHS1
3 west syndrome 31.7 RELN PVALB PAFAH1B1 FLNA ARFGEF2
4 neuronal migration disorders 31.5 RELN PAFAH1B1 DCX ARFGEF2
5 frontometaphyseal dysplasia 31.5 LOC107988032 FLNA
6 lissencephaly 31.4 TMTC3 RELN PAFAH1B1 MAP1B DCX
7 melnick-needles syndrome 31.4 LOC107988032 FLNA
8 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 31.3 LOC107988032 FLNA
9 fg syndrome 2 31.2 LOC107988032 FLNA
10 lissencephaly 1 31.2 RELN PAFAH1B1 DCX
11 focal epilepsy 31.2 RELN PVALB DCX
12 dyslexia 31.2 RELN NEDD4L FLNA DCX
13 miller-dieker lissencephaly syndrome 31.2 RELN PAFAH1B1 DCX ARFGEF2
14 type i ehlers-danlos syndrome 31.1 LOC107988032 FLNA
15 lissencephaly, x-linked, 1 31.0 PAFAH1B1 DCX
16 band heterotopia 30.9 RELN PAFAH1B1 MAP1B FLNA ERMARD DCX
17 periventricular nodular heterotopia 7 13.0
18 flna-related periventricular nodular heterotopia 13.0
19 periventricular nodular heterotopia 6 13.0
20 periventricular nodular heterotopia 8 12.9
21 periventricular nodular heterotopia 3 12.6
22 periventricular heterotopia with microcephaly, autosomal recessive 12.4
23 chromosome 5q14.3 deletion syndrome, distal 11.8
24 van maldergem syndrome 2 11.7
25 frontometaphyseal dysplasia 1 10.7 LOC107988032 FLNA
26 van maldergem syndrome 10.7 FAT4 ERMARD DCHS1 ARFGEF2
27 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.7
28 epilepsy 10.7
29 polymicrogyria 10.7
30 seizure disorder 10.7
31 lissencephaly with cerebellar hypoplasia 10.7 RELN PAFAH1B1 DCX
32 terminal osseous dysplasia 10.6 LOC107988032 FLNA
33 congenital nervous system abnormality 10.6 RELN PAFAH1B1 FLNA DCX ARFGEF2
34 alacrima, achalasia, and mental retardation syndrome 10.6
35 physical disorder 10.6 RELN PAFAH1B1 FLNA DCX ARFGEF2
36 walker-warburg syndrome 10.6 TMTC3 RELN PAFAH1B1 ARFGEF2
37 senile ectropion 10.6 FLNA ELN
38 orthostatic intolerance 10.6 FLNA ELN DCHS1
39 visual epilepsy 10.6
40 ganglioglioma 10.6 RELN PVALB DCX
41 paroxysmal dystonia 10.6 PVALB CALB2
42 chromosome 17p13.3, centromeric, duplication syndrome 10.6 PAFAH1B1 DCX
43 hypomelanosis of ito 10.6 PAFAH1B1 ARFGEF2
44 boomerang dysplasia 10.6 FLNB FLNA
45 cortical dysplasia, complex, with other brain malformations 7 10.5
46 atelosteogenesis 10.5 FLNB FLNA
47 cleft palate, isolated 10.5
48 chromosome 2q35 duplication syndrome 10.5
49 hydrocephalus, congenital, 1 10.5
50 hypotonia 10.5

Graphical network of the top 20 diseases related to Periventricular Nodular Heterotopia:



Diseases related to Periventricular Nodular Heterotopia

Symptoms & Phenotypes for Periventricular Nodular Heterotopia

Human phenotypes related to Periventricular Nodular Heterotopia:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 abnormal bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0001892
4 hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100790
5 pyloric stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002021
6 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
7 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
8 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
9 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
10 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
11 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
12 periventricular heterotopia 31 frequent (33%) HP:0007165
13 patellar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002999
14 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
15 aortic aneurysm 31 occasional (7.5%) HP:0004942
16 abnormality of nervous system morphology 58 Frequent (79-30%)
17 aortic dilatation 58 Occasional (29-5%)
18 periventricular gray matter heterotopia 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ARF1 ARFGEF2 DCHS1 DCX FAT4 FLNA
2 nervous system MP:0003631 9.4 ARFGEF2 CALB2 DCHS1 DCX FAT4 FLNA

Drugs & Therapeutics for Periventricular Nodular Heterotopia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy Completed NCT00552045

Search NIH Clinical Center for Periventricular Nodular Heterotopia

Cochrane evidence based reviews: periventricular nodular heterotopia

Genetic Tests for Periventricular Nodular Heterotopia

Genetic tests related to Periventricular Nodular Heterotopia:

# Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia 29
2 Periventricular Heterotopia 29

Anatomical Context for Periventricular Nodular Heterotopia

MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

40
Brain, Fetal Brain, Cortex, Lung, Skin, Heart, Testes

Publications for Periventricular Nodular Heterotopia

Articles related to Periventricular Nodular Heterotopia:

(show top 50) (show all 400)
# Title Authors PMID Year
1
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. 54 61
19917821 2009
2
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. 54 61
19289478 2009
3
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. 54 61
18996916 2009
4
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. 54 61
18660478 2008
5
A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. 54 61
18427995 2008
6
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. 54 61
18384621 2008
7
Bilateral periventricular nodular heterotopia with amniotic band syndrome. 54 61
17560504 2007
8
MEKK4 signaling regulates filamin expression and neuronal migration. 54 61
17145501 2006
9
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 54 61
16684786 2006
10
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 54 61
16299064 2006
11
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 54 61
15994863 2006
12
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. 54 61
16417552 2006
13
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. 54 61
16320251 2006
14
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 54 61
15668422 2005
15
BIG1 and BIG2, brefeldin A-inhibited guanine nucleotide-exchange factors for ADP-ribosylation factors. 54 61
16413268 2005
16
Functional disomy resulting from duplications of distal Xq in four unrelated patients. 54 61
15338277 2004
17
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. 54 61
15459826 2004
18
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 54 61
15249610 2004
19
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. 54 61
14988809 2004
20
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 54 61
14647276 2004
21
Presence of filamin in the astrocytic inclusions of Aicardi syndrome. 54 61
14738943 2004
22
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 54 61
12612583 2003
23
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. 54 61
12393796 2002
24
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 54 61
11914408 2002
25
Periventricular heterotopia may result from radial glial fiber disruption. 54 61
11556542 2001
26
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. 54 61
11100490 2000
27
Filamin is required for ring canal assembly and actin organization during Drosophila oogenesis. 54 61
10477759 1999
28
Functional and resting-state characterizations of a periventricular heterotopic nodule associated with epileptogenic activity. 61
32006947 2020
29
[Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant]. 61
31922594 2020
30
Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Epilepsy: Systematic Review of Technique, Indications, and Outcomes. 61
31980831 2020
31
Resting-state functional connectivity alterations in periventricular nodular heterotopia related epilepsy. 61
31804610 2019
32
Periventricular nodular heterotopia. 61
31686471 2019
33
Stereo-EEG ictal/interictal patterns and underlying pathologies. 61
31606703 2019
34
A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes. 61
31489630 2019
35
Experience on the use of Vagus Nerve Stimulation during pregnancy. 61
31446283 2019
36
Reading deficits correlate with cortical and subcortical volume changes in a genetic migration disorder. 61
31490406 2019
37
MAP1B related syndrome: Case presentation and review of literature. 61
31317654 2019
38
Role of magnetic resonance imaging in fetuses with mild or moderate ventriculomegaly in the era of fetal neurosonography: systematic review and meta-analysis. 61
30549340 2019
39
Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings. 61
31163364 2019
40
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. 61
31028281 2019
41
Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. 61
30987847 2019
42
[Periventricular nodular heterotopia : a pediatric case]. 61
31373451 2019
43
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. 61
30683929 2019
44
Derepression of sonic hedgehog signaling upon Gpr161 deletion unravels forebrain and ventricular abnormalities. 61
30914320 2019
45
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 61
30142437 2019
46
Re: Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation. 61
30938478 2019
47
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. 61
30879067 2019
48
Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia. 61
30858616 2019
49
A transient window of hypothyroidism alters neural progenitor cells and results in abnormal brain development. 61
30874585 2019
50
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review. 61
30922288 2019

Variations for Periventricular Nodular Heterotopia

ClinVar genetic disease variations for Periventricular Nodular Heterotopia:

6 (show top 50) (show all 96) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP1B NM_005909.5(MAP1B):c.819del (p.Leu274fs)deletion Likely pathogenic 548635 rs1554054827 5:71490000-71490000 5:72194173-72194173
2 MAP1B NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)SNV Likely pathogenic 548632 rs1554054831 5:71490089-71490089 5:72194262-72194262
3 MAP1B NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter)SNV Likely pathogenic 548633 rs1554054880 5:71490776-71490776 5:72194949-72194949
4 MAP1B NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)SNV Likely pathogenic 548634 rs1554055106 5:71492498-71492498 5:72196671-72196671
5 MAP1B NM_005909.5(MAP1B):c.2134del (p.Glu712fs)deletion risk factor 800720 5:71491315-71491315 5:72195488-72195488
6 MAP1B NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter)SNV risk factor 800721 5:71492276-71492276 5:72196449-72196449
7 MAP1B NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)SNV risk factor 800722 5:71494172-71494172 5:72198345-72198345
8 ARFGEF2 NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)SNV Conflicting interpretations of pathogenicity 128441 rs151221957 20:47634040-47634040 20:49017503-49017503
9 ARFGEF2 NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)SNV Conflicting interpretations of pathogenicity 128445 rs149172723 20:47570296-47570296 20:48953759-48953759
10 ARFGEF2 NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)SNV Conflicting interpretations of pathogenicity 128446 rs143570842 20:47570300-47570300 20:48953763-48953763
11 ARFGEF2 NM_006420.3(ARFGEF2):c.1275C>T (p.His425=)SNV Conflicting interpretations of pathogenicity 128427 rs117131028 20:47587741-47587741 20:48971204-48971204
12 ARFGEF2 NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)SNV Conflicting interpretations of pathogenicity 128432 rs147534008 20:47589800-47589800 20:48973263-48973263
13 ARFGEF2 NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)SNV Conflicting interpretations of pathogenicity 128433 rs73113975 20:47558417-47558417 20:48941880-48941880
14 ARFGEF2 NM_006420.3(ARFGEF2):c.2686-9C>TSNV Conflicting interpretations of pathogenicity 128434 rs200945599 20:47606084-47606084 20:48989547-48989547
15 ARFGEF2 NM_006420.3(ARFGEF2):c.2815-7G>ASNV Conflicting interpretations of pathogenicity 128435 rs187176143 20:47607570-47607570 20:48991033-48991033
16 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>A (p.Ser1059=)SNV Conflicting interpretations of pathogenicity 128436 rs61748373 20:47612375-47612375 20:48995838-48995838
17 ARFGEF2 NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)SNV Conflicting interpretations of pathogenicity 210228 rs146772848 20:47592666-47592666 20:48976129-48976129
18 ARFGEF2 NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=)SNV Conflicting interpretations of pathogenicity 210234 rs61748373 20:47612375-47612375 20:48995838-48995838
19 ARFGEF2 NM_006420.3(ARFGEF2):c.-43G>ASNV Conflicting interpretations of pathogenicity 338679 rs370864802 20:47538384-47538384 20:48921847-48921847
20 ARFGEF2 NM_006420.3(ARFGEF2):c.3507T>G (p.Leu1169=)SNV Conflicting interpretations of pathogenicity 338696 rs117818460 20:47621681-47621681 20:49005144-49005144
21 ARFGEF2 NM_006420.3(ARFGEF2):c.1425+15G>ASNV Conflicting interpretations of pathogenicity 338688 rs374522450 20:47587906-47587906 20:48971369-48971369
22 ARFGEF2 NM_006420.3(ARFGEF2):c.1425+11C>TSNV Conflicting interpretations of pathogenicity 338687 rs74970217 20:47587902-47587902 20:48971365-48971365
23 ARFGEF2 NM_006420.3(ARFGEF2):c.2831A>T (p.Tyr944Phe)SNV Uncertain significance 338694 rs886056756 20:47607593-47607593 20:48991056-48991056
24 ARFGEF2 NM_006420.3(ARFGEF2):c.4061T>C (p.Val1354Ala)SNV Uncertain significance 338698 rs771148216 20:47630379-47630379 20:49013842-49013842
25 ARFGEF2 NM_006420.3(ARFGEF2):c.5105C>T (p.Ser1702Phe)SNV Uncertain significance 338706 rs767531219 20:47648627-47648627 20:49032090-49032090
26 ARFGEF2 NM_006420.3(ARFGEF2):c.*141G>ASNV Uncertain significance 338711 rs200664908 20:47649877-47649877 20:49033340-49033340
27 ARFGEF2 NM_006420.3(ARFGEF2):c.*215G>TSNV Uncertain significance 338712 rs886056760 20:47649951-47649951 20:49033414-49033414
28 ARFGEF2 NM_006420.3(ARFGEF2):c.*1016G>ASNV Uncertain significance 338718 rs534792055 20:47650752-47650752 20:49034215-49034215
29 ARFGEF2 NM_006420.3(ARFGEF2):c.*1200A>GSNV Uncertain significance 338720 rs886056762 20:47650936-47650936 20:49034399-49034399
30 ARFGEF2 NM_006420.3(ARFGEF2):c.*1422A>GSNV Uncertain significance 338722 rs145729807 20:47651158-47651158 20:49034621-49034621
31 ARFGEF2 NM_006420.3(ARFGEF2):c.*2451A>CSNV Uncertain significance 338735 rs886056770 20:47652187-47652187 20:49035650-49035650
32 ARFGEF2 NM_006420.3(ARFGEF2):c.*2609C>TSNV Uncertain significance 338739 rs780728922 20:47652345-47652345 20:49035808-49035808
33 ARFGEF2 NM_006420.3(ARFGEF2):c.*2758A>TSNV Uncertain significance 338740 rs886056771 20:47652494-47652494 20:49035957-49035957
34 ARFGEF2 NM_006420.3(ARFGEF2):c.*2898C>TSNV Uncertain significance 338746 rs562341163 20:47652634-47652634 20:49036097-49036097
35 ARFGEF2 NM_006420.3(ARFGEF2):c.1497C>T (p.Val499=)SNV Uncertain significance 338689 rs745336226 20:47588934-47588934 20:48972397-48972397
36 ARFGEF2 NM_006420.3(ARFGEF2):c.4924+13A>GSNV Uncertain significance 338704 rs886056758 20:47642031-47642031 20:49025494-49025494
37 ARFGEF2 NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile)SNV Uncertain significance 338705 rs145439001 20:47645205-47645205 20:49028668-49028668
38 ARFGEF2 NM_006420.3(ARFGEF2):c.-68C>ASNV Uncertain significance 338677 rs886056751 20:47538359-47538359 20:48921822-48921822
39 ARFGEF2 NM_006420.3(ARFGEF2):c.-60C>TSNV Uncertain significance 338678 rs562458873 20:47538367-47538367 20:48921830-48921830
40 ARFGEF2 NM_006420.3(ARFGEF2):c.-5G>ASNV Uncertain significance 338680 rs375056092 20:47538422-47538422 20:48921885-48921885
41 ARFGEF2 NM_006420.3(ARFGEF2):c.1064C>T (p.Ser355Leu)SNV Uncertain significance 338684 rs886056752 20:47585688-47585688 20:48969151-48969151
42 ARFGEF2 NM_006420.3(ARFGEF2):c.1182A>G (p.Pro394=)SNV Uncertain significance 338685 rs886056753 20:47585806-47585806 20:48969269-48969269
43 ARFGEF2 NM_006420.3(ARFGEF2):c.*32G>TSNV Uncertain significance 338708 rs755592884 20:47649768-47649768 20:49033231-49033231
44 ARFGEF2 NM_006420.3(ARFGEF2):c.*1603A>GSNV Uncertain significance 338724 rs138230360 20:47651339-47651339 20:49034802-49034802
45 ARFGEF2 NM_006420.3(ARFGEF2):c.*2067G>CSNV Uncertain significance 338733 rs886056769 20:47651803-47651803 20:49035266-49035266
46 ARFGEF2 NM_006420.3(ARFGEF2):c.*2240A>CSNV Uncertain significance 338734 rs544204791 20:47651976-47651976 20:49035439-49035439
47 ARFGEF2 NM_006420.3(ARFGEF2):c.*2806deldeletion Uncertain significance 338743 rs397957165 20:47652531-47652531 20:49035994-49035994
48 ARFGEF2 NM_006420.3(ARFGEF2):c.*1608T>CSNV Uncertain significance 338725 rs886056765 20:47651344-47651344 20:49034807-49034807
49 ARFGEF2 NM_006420.3(ARFGEF2):c.*2805_*2807deldeletion Uncertain significance 338744 rs547552436 20:47652541-47652543 20:49036004-49036006
50 ARFGEF2 NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His)SNV Uncertain significance 338681 rs140989375 20:47570184-47570184 20:48953647-48953647

Copy number variations for Periventricular Nodular Heterotopia from CNVD:

7 (show all 22)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13743 1 1 27800000 Deletion periventricular nodular heterotopia
2 158162 21 30500000 46944323 Microdeletion AP001042.1 periventricular nodular heterotopia
3 158165 21 30500000 46944323 Microdeletion BRWD1 periventricular nodular heterotopia
4 158168 21 30500000 46944323 Microdeletion C21orf24 periventricular nodular heterotopia
5 158171 21 30500000 46944323 Microdeletion DSCR10 periventricular nodular heterotopia
6 158174 21 30500000 46944323 Microdeletion DSCR3 periventricular nodular heterotopia
7 158177 21 30500000 46944323 Microdeletion DSCR4 periventricular nodular heterotopia
8 158180 21 30500000 46944323 Microdeletion DSCR6 periventricular nodular heterotopia
9 158183 21 30500000 46944323 Microdeletion DSCR8 periventricular nodular heterotopia
10 158186 21 30500000 46944323 Microdeletion DSCR9 periventricular nodular heterotopia
11 158189 21 30500000 46944323 Microdeletion DYRK1A periventricular nodular heterotopia
12 158192 21 30500000 46944323 Microdeletion ERG periventricular nodular heterotopia
13 158195 21 30500000 46944323 Microdeletion ETS2 periventricular nodular heterotopia
14 158198 21 30500000 46944323 Microdeletion HLCS periventricular nodular heterotopia
15 158201 21 30500000 46944323 Microdeletion KCNJ15 periventricular nodular heterotopia
16 158204 21 30500000 46944323 Microdeletion KCNJ6 periventricular nodular heterotopia
17 158207 21 30500000 46944323 Microdeletion PIGP periventricular nodular heterotopia
18 158210 21 30500000 46944323 Microdeletion PSMG1 periventricular nodular heterotopia
19 158214 21 30500000 46944323 Microdeletion TTC3 periventricular nodular heterotopia
20 160229 22 11800000 24300000 Deletion periventricular nodular heterotopia
21 227690 7 71800000 77400000 Deletion periventricular nodular heterotopia
22 260192 X 146900000 154913754 Copy number periventricular nodular heterotopia

Expression for Periventricular Nodular Heterotopia

Search GEO for disease gene expression data for Periventricular Nodular Heterotopia.

Pathways for Periventricular Nodular Heterotopia

Pathways related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.95 PAFAH1B1 FLNB FLNA DCX
2 10.59 RELN PAFAH1B1 MAP1B
3 10.42 RELN PAFAH1B1 MAP1B DCX

GO Terms for Periventricular Nodular Heterotopia

Cellular components related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.8 PAFAH1B1 MAP1B FLNA ARFGEF2 ARF1
2 neuronal cell body GO:0043025 9.65 PVALB PAFAH1B1 MAP1B FLNB FLNA
3 apical dendrite GO:0097440 9.37 MAP1B FLNA
4 stereocilium GO:0032420 9.33 PVALB PAFAH1B1 CALB2
5 cuticular plate GO:0032437 9.32 PVALB CALB2
6 microtubule associated complex GO:0005875 9.13 PAFAH1B1 MAP1B DCX
7 neuron projection GO:0043005 9.1 RELN PAFAH1B1 FLNB DCX CALB2 ARF1

Biological processes related to Periventricular Nodular Heterotopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hippocampus development GO:0021766 9.58 RELN PAFAH1B1 DCX
2 positive regulation of endocytosis GO:0045807 9.48 NEDD4L ARF1
3 positive regulation of dendritic spine morphogenesis GO:0061003 9.46 RELN PAFAH1B1
4 neuron migration GO:0001764 9.46 RELN PAFAH1B1 MAP1B DCX
5 nephron development GO:0072006 9.43 FAT4 DCHS1
6 cochlea development GO:0090102 9.43 PVALB PAFAH1B1 DCHS1
7 ossification involved in bone maturation GO:0043931 9.37 FAT4 DCHS1
8 condensed mesenchymal cell proliferation GO:0072137 9.32 FAT4 DCHS1
9 cerebral cortex development GO:0021987 9.26 RELN PAFAH1B1 FLNA FAT4
10 layer formation in cerebral cortex GO:0021819 8.8 RELN PAFAH1B1 DCX

Sources for Periventricular Nodular Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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