MCID: PRV002
MIFTS: 50

Periventricular Nodular Heterotopia

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Periventricular Nodular Heterotopia

MalaCards integrated aliases for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 12 54 26 60 38 30 56 6 45 15 74
Periventricular Heterotopia 12 54 26 30 6
Heterotopia, Periventricular 13 41
Pvnh 54 60
Periventricular Heterotopia, X-Linked 74
Familial Nodular Heterotopia 26

Characteristics:

Orphanet epidemiological data:

60
periventricular nodular heterotopia
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050454
KEGG 38 H00270
MeSH 45 D054091
MESH via Orphanet 46 D054091
ICD10 via Orphanet 35 Q04.8
UMLS via Orphanet 75 C1868720
Orphanet 60 ORPHA98892

Summaries for Periventricular Nodular Heterotopia

NIH Rare Diseases : 54 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.

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 Hippo signaling pathway - multiple species. 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.

Genetics Home Reference : 26 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

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 73)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 35.1 FLNA LOC105373386
2 van maldergem syndrome 1 33.0 DCHS1 FAT4
3 melnick-needles syndrome 30.8 FLNA LOC105373386
4 frontometaphyseal dysplasia 30.8 FLNA LOC105373386
5 west syndrome 30.7 ARFGEF2 FLNA PAFAH1B1
6 cerebellar hypoplasia 30.5 DCX PAFAH1B1 RELN
7 lissencephaly 30.3 DCX PAFAH1B1 RELN TMTC3
8 band heterotopia 30.3 DCX FLNA PAFAH1B1 RELN
9 periventricular nodular heterotopia 7 12.9
10 flna-related periventricular nodular heterotopia 12.9
11 periventricular nodular heterotopia 6 12.8
12 periventricular nodular heterotopia 8 12.8
13 periventricular nodular heterotopia 3 12.5
14 periventricular heterotopia with microcephaly, autosomal recessive 12.2
15 chromosome 5q14.3 deletion syndrome, distal 11.7
16 van maldergem syndrome 2 11.6
17 epilepsy 10.8
18 polymicrogyria 10.6
19 chromosome 17p13.3, centromeric, duplication syndrome 10.4 DCX PAFAH1B1
20 van maldergem syndrome 10.4 DCHS1 FAT4
21 orthostatic intolerance 10.3 DCHS1 ELN FLNA
22 atelosteogenesis 10.3 FLNA FLNB
23 cleft palate, isolated 10.3
24 hydrocephalus, congenital, 1 10.3
25 alacrima, achalasia, and mental retardation syndrome 10.3
26 hydrocephalus 10.3
27 ehlers-danlos syndrome 10.3
28 congenital hydrocephalus 10.3
29 megalencephaly 10.3
30 lissencephaly, x-linked, 1 10.3 DCX PAFAH1B1
31 physical disorder 10.3 DCX FLNA PAFAH1B1
32 lissencephaly with cerebellar hypoplasia 10.2 DCX PAFAH1B1 RELN
33 renal hypoplasia 10.2 DCHS1 FAT4
34 lissencephaly 1 10.2 DCX PAFAH1B1 RELN
35 frontonasal dysplasia 1 10.1
36 jacobsen syndrome 10.1
37 kbg syndrome 10.1
38 smith-magenis syndrome 10.1
39 chromosome 2q35 duplication syndrome 10.1
40 williams-beuren syndrome 10.1
41 multiple pterygium syndrome, escobar variant 10.1
42 fg syndrome 2 10.1
43 polymicrogyria, bilateral perisylvian, x-linked 10.1
44 craniosynostosis 10.1
45 temporal lobe epilepsy 10.1
46 left ventricular noncompaction 10.1
47 hemiplegia 10.1
48 patulous eustachian tube 10.1
49 tuberous sclerosis 10.1
50 obstructive hydrocephalus 10.1

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:

60 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 Very frequent (99-80%)
2 gastroesophageal reflux 60 Very frequent (99-80%)
3 abnormal bleeding 60 Very frequent (99-80%)
4 abnormality of the heart valves 60 Frequent (79-30%)
5 hernia 60 Very frequent (99-80%)
6 patent ductus arteriosus 60 Frequent (79-30%)
7 thin skin 60 Frequent (79-30%)
8 abnormality of nervous system morphology 60 Frequent (79-30%)
9 aortic dilatation 60 Occasional (29-5%)
10 joint hypermobility 60 Frequent (79-30%)
11 focal-onset seizure 60 Frequent (79-30%)
12 patellar dislocation 60 Occasional (29-5%)
13 pyloric stenosis 60 Very frequent (99-80%)
14 shoulder dislocation 60 Occasional (29-5%)
15 aortic regurgitation 60 Frequent (79-30%)
16 periventricular gray matter heterotopia 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 ARF1 ARFGEF2 DCHS1 DCX FAT4 FLNA
2 nervous system MP:0003631 9.36 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 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 30
2 Periventricular Heterotopia 30

Anatomical Context for Periventricular Nodular Heterotopia

MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

42
Brain, Fetal Brain, Cortex, Skin, Heart, Temporal Lobe, Bone

Publications for Periventricular Nodular Heterotopia

Articles related to Periventricular Nodular Heterotopia:

(show top 50) (show all 184)
# Title Authors Year
1
Long term seizure freedom on perampanel in highly drug-resistant epilepsy caused by bilateral periventricular nodular heterotopia: A case report. ( 30891403 )
2019
2
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. ( 30683929 )
2019
3
Re: Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation. ( 30938478 )
2019
4
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. ( 31028281 )
2019
5
A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia. ( 30271470 )
2018
6
Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation. ( 29062687 )
2018
7
Bilateral periventricular nodular heterotopia detected on fetal and maternal MRI attributable to novel filamin A gene mutation. ( 29266454 )
2018
8
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. ( 29449050 )
2018
9
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. ( 29738522 )
2018
10
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome. ( 30391507 )
2018
11
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. ( 30393983 )
2018
12
Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration. ( 30480026 )
2018
13
High-frequency oscillations and spikes running down after SEEG-guided thermocoagulations in the epileptogenic network of periventricular nodular heterotopia. ( 30610969 )
2018
14
RF-ablation in periventricular heterotopia-related epilepsy. ( 28705474 )
2018
15
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. ( 27787898 )
2017
16
Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals. ( 28158406 )
2017
17
Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations. ( 28411558 )
2017
18
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
19
Region-specific connectivity in patients with periventricular nodular heterotopia and epilepsy: A study combining diffusion tensor imaging and functional MRI. ( 28850831 )
2017
20
Perilesional and contralateral white matter evolution and integrity in patients with periventricular nodular heterotopia and epilepsy: a longitudinal diffusion tensor imaging study. ( 28872216 )
2017
21
Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies. ( 28880999 )
2017
22
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. ( 28973161 )
2017
23
Filamin A Gene Associated Periventricular Nodular Heterotopia and Epilepsy in a Cohort of Chinese Patients. ( 29052574 )
2017
24
Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome. ( 27144976 )
2016
25
Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging. ( 26990213 )
2016
26
Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. ( 27355897 )
2016
27
Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication. ( 27386127 )
2016
28
Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. ( 27461957 )
2016
29
A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia. ( 27625105 )
2016
30
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. ( 27694961 )
2016
31
Detection of a novel c.7106_7110delinsT heterozygous mutation in the FLNA gene in an asymptomatic mother with periventricular nodular heterotopia during prenatal genetic counseling. ( 28040145 )
2016
32
Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome. ( 26110114 )
2015
33
Graves' hyperthyroidism-induced psychosis in a patient with periventricular nodular heterotopia. ( 25918012 )
2015
34
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. ( 25755106 )
2015
35
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. ( 25475607 )
2015
36
Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. ( 25524841 )
2015
37
Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices. ( 25752321 )
2015
38
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? ( 26241618 )
2015
39
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. ( 26340046 )
2015
40
Concurrent neurodegenerative pathologies in periventricular nodular heterotopia. ( 26458987 )
2015
41
47 patients with FLNA associated periventricular nodular heterotopia. ( 26471271 )
2015
42
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6. ( 26213576 )
2015
43
A brain and heart connection: X-linked periventricular heterotopia. ( 25557968 )
2015
44
Rcan1 deficiency impairs neuronal migration and causes periventricular heterotopia. ( 25589755 )
2015
45
Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia. ( 25883548 )
2015
46
Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation. ( 25160555 )
2014
47
Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia. ( 25131162 )
2014
48
Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy. ( 25624936 )
2014
49
Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report. ( 23266946 )
2014
50
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014

Variations for Periventricular Nodular Heterotopia

ClinVar genetic disease variations for Periventricular Nodular Heterotopia:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARFGEF2 NM_006420.2(ARFGEF2): c.1275C> T (p.His425=) single nucleotide variant Conflicting interpretations of pathogenicity rs117131028 GRCh37 Chromosome 20, 47587741: 47587741
2 ARFGEF2 NM_006420.2(ARFGEF2): c.1275C> T (p.His425=) single nucleotide variant Conflicting interpretations of pathogenicity rs117131028 GRCh38 Chromosome 20, 48971204: 48971204
3 ARFGEF2 NM_006420.2(ARFGEF2): c.1644G> A (p.Glu548=) single nucleotide variant Conflicting interpretations of pathogenicity rs147534008 GRCh37 Chromosome 20, 47589800: 47589800
4 ARFGEF2 NM_006420.2(ARFGEF2): c.1644G> A (p.Glu548=) single nucleotide variant Conflicting interpretations of pathogenicity rs147534008 GRCh38 Chromosome 20, 48973263: 48973263
5 ARFGEF2 NM_006420.2(ARFGEF2): c.169C> T (p.Pro57Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs73113975 GRCh37 Chromosome 20, 47558417: 47558417
6 ARFGEF2 NM_006420.2(ARFGEF2): c.169C> T (p.Pro57Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs73113975 GRCh38 Chromosome 20, 48941880: 48941880
7 ARFGEF2 NM_006420.2(ARFGEF2): c.2686-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200945599 GRCh37 Chromosome 20, 47606084: 47606084
8 ARFGEF2 NM_006420.2(ARFGEF2): c.2686-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200945599 GRCh38 Chromosome 20, 48989547: 48989547
9 ARFGEF2 NM_006420.2(ARFGEF2): c.2815-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs187176143 GRCh37 Chromosome 20, 47607570: 47607570
10 ARFGEF2 NM_006420.2(ARFGEF2): c.2815-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs187176143 GRCh38 Chromosome 20, 48991033: 48991033
11 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> A (p.Ser1059=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748373 GRCh37 Chromosome 20, 47612375: 47612375
12 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> A (p.Ser1059=) single nucleotide variant Conflicting interpretations of pathogenicity rs61748373 GRCh38 Chromosome 20, 48995838: 48995838
13 ARFGEF2 NM_006420.2(ARFGEF2): c.3663T> C (p.Gly1221=) single nucleotide variant Benign/Likely benign rs2295580 GRCh37 Chromosome 20, 47626847: 47626847
14 ARFGEF2 NM_006420.2(ARFGEF2): c.3663T> C (p.Gly1221=) single nucleotide variant Benign/Likely benign rs2295580 GRCh38 Chromosome 20, 49010310: 49010310
15 ARFGEF2 NM_006420.2(ARFGEF2): c.4131C> T (p.Ile1377=) single nucleotide variant Benign/Likely benign rs2281582 GRCh37 Chromosome 20, 47630449: 47630449
16 ARFGEF2 NM_006420.2(ARFGEF2): c.4131C> T (p.Ile1377=) single nucleotide variant Benign/Likely benign rs2281582 GRCh38 Chromosome 20, 49013912: 49013912
17 ARFGEF2 NM_006420.2(ARFGEF2): c.423+3A> G single nucleotide variant Benign/Likely benign rs2295029 GRCh37 Chromosome 20, 47568009: 47568009
18 ARFGEF2 NM_006420.2(ARFGEF2): c.423+3A> G single nucleotide variant Benign/Likely benign rs2295029 GRCh38 Chromosome 20, 48951472: 48951472
19 ARFGEF2 NM_006420.2(ARFGEF2): c.4462A> T (p.Thr1488Ser) single nucleotide variant Uncertain significance rs151221957 GRCh37 Chromosome 20, 47634040: 47634040
20 ARFGEF2 NM_006420.2(ARFGEF2): c.4462A> T (p.Thr1488Ser) single nucleotide variant Uncertain significance rs151221957 GRCh38 Chromosome 20, 49017503: 49017503
21 ARFGEF2 NM_006420.2(ARFGEF2): c.807C> T (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs149172723 GRCh37 Chromosome 20, 47570296: 47570296
22 ARFGEF2 NM_006420.2(ARFGEF2): c.807C> T (p.Asp269=) single nucleotide variant Conflicting interpretations of pathogenicity rs149172723 GRCh38 Chromosome 20, 48953759: 48953759
23 ARFGEF2 NM_006420.2(ARFGEF2): c.811C> G (p.Pro271Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143570842 GRCh37 Chromosome 20, 47570300: 47570300
24 ARFGEF2 NM_006420.2(ARFGEF2): c.811C> G (p.Pro271Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143570842 GRCh38 Chromosome 20, 48953763: 48953763
25 ARFGEF2 NM_006420.2(ARFGEF2): c.1888G> A (p.Val630Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146772848 GRCh38 Chromosome 20, 48976129: 48976129
26 ARFGEF2 NM_006420.2(ARFGEF2): c.1888G> A (p.Val630Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146772848 GRCh37 Chromosome 20, 47592666: 47592666
27 ARFGEF2 NM_006420.2(ARFGEF2): c.2253A> G (p.Ala751=) single nucleotide variant Uncertain significance rs770578384 GRCh38 Chromosome 20, 48985590: 48985590
28 ARFGEF2 NM_006420.2(ARFGEF2): c.2253A> G (p.Ala751=) single nucleotide variant Uncertain significance rs770578384 GRCh37 Chromosome 20, 47602127: 47602127
29 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> T (p.Ser1059=) single nucleotide variant Uncertain significance rs61748373 GRCh37 Chromosome 20, 47612375: 47612375
30 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> T (p.Ser1059=) single nucleotide variant Uncertain significance rs61748373 GRCh38 Chromosome 20, 48995838: 48995838
31 ARFGEF2 NM_006420.2(ARFGEF2): c.4332G> A (p.Ala1444=) single nucleotide variant Uncertain significance rs201206379 GRCh37 Chromosome 20, 47633802: 47633802
32 ARFGEF2 NM_006420.2(ARFGEF2): c.4332G> A (p.Ala1444=) single nucleotide variant Uncertain significance rs201206379 GRCh38 Chromosome 20, 49017265: 49017265
33 ARFGEF2 NM_006420.2(ARFGEF2): c.1585A> G (p.Ile529Val) single nucleotide variant Uncertain significance rs770424682 GRCh38 Chromosome 20, 48973204: 48973204
34 ARFGEF2 NM_006420.2(ARFGEF2): c.1585A> G (p.Ile529Val) single nucleotide variant Uncertain significance rs770424682 GRCh37 Chromosome 20, 47589741: 47589741
35 ARFGEF2 NM_006420.2(ARFGEF2): c.2286_2288delGTT (p.Phe763del) deletion Uncertain significance rs886056755 GRCh38 Chromosome 20, 48988313: 48988315
36 ARFGEF2 NM_006420.2(ARFGEF2): c.2286_2288delGTT (p.Phe763del) deletion Uncertain significance rs886056755 GRCh37 Chromosome 20, 47604850: 47604852
37 ARFGEF2 NM_006420.2(ARFGEF2): c.2658C> T (p.His886=) single nucleotide variant Uncertain significance rs201685748 GRCh38 Chromosome 20, 48989409: 48989409
38 ARFGEF2 NM_006420.2(ARFGEF2): c.2658C> T (p.His886=) single nucleotide variant Uncertain significance rs201685748 GRCh37 Chromosome 20, 47605946: 47605946
39 ARFGEF2 NM_006420.2(ARFGEF2): c.3046G> C (p.Gly1016Arg) single nucleotide variant Uncertain significance rs149644732 GRCh38 Chromosome 20, 48994523: 48994523
40 ARFGEF2 NM_006420.2(ARFGEF2): c.3046G> C (p.Gly1016Arg) single nucleotide variant Uncertain significance rs149644732 GRCh37 Chromosome 20, 47611060: 47611060
41 ARFGEF2 NM_006420.2(ARFGEF2): c.3900C> T (p.Tyr1300=) single nucleotide variant Uncertain significance rs142138231 GRCh37 Chromosome 20, 47628603: 47628603
42 ARFGEF2 NM_006420.2(ARFGEF2): c.3900C> T (p.Tyr1300=) single nucleotide variant Uncertain significance rs142138231 GRCh38 Chromosome 20, 49012066: 49012066
43 ARFGEF2 NM_006420.2(ARFGEF2): c.4315+5T> G single nucleotide variant Uncertain significance rs753508291 GRCh37 Chromosome 20, 47632957: 47632957
44 ARFGEF2 NM_006420.2(ARFGEF2): c.4315+5T> G single nucleotide variant Uncertain significance rs753508291 GRCh38 Chromosome 20, 49016420: 49016420
45 ARFGEF2 NM_006420.2(ARFGEF2): c.4316-12T> C single nucleotide variant Uncertain significance rs573635235 GRCh37 Chromosome 20, 47633774: 47633774
46 ARFGEF2 NM_006420.2(ARFGEF2): c.4316-12T> C single nucleotide variant Uncertain significance rs573635235 GRCh38 Chromosome 20, 49017237: 49017237
47 ARFGEF2 NM_006420.2(ARFGEF2): c.4373A> G (p.Asn1458Ser) single nucleotide variant Uncertain significance rs886056757 GRCh37 Chromosome 20, 47633843: 47633843
48 ARFGEF2 NM_006420.2(ARFGEF2): c.4373A> G (p.Asn1458Ser) single nucleotide variant Uncertain significance rs886056757 GRCh38 Chromosome 20, 49017306: 49017306
49 ARFGEF2 NM_006420.2(ARFGEF2): c.4480A> G (p.Met1494Val) single nucleotide variant Uncertain significance rs200763159 GRCh37 Chromosome 20, 47634058: 47634058
50 ARFGEF2 NM_006420.2(ARFGEF2): c.4480A> G (p.Met1494Val) single nucleotide variant Uncertain significance rs200763159 GRCh38 Chromosome 20, 49017521: 49017521

Copy number variations for Periventricular Nodular Heterotopia from CNVD:

7 (show all 22)
# CNVD ID Chromosom 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 DCX FLNA FLNB PAFAH1B1
2 10.72 DCHS1 FAT4
3 10.59 MAP1B PAFAH1B1 RELN
4 10.42 DCX MAP1B PAFAH1B1 RELN

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 neuron projection GO:0043005 9.56 ARF1 CALB2 DCX PAFAH1B1
2 cell cortex GO:0005938 9.33 FLNA FLNB PAFAH1B1
3 apical dendrite GO:0097440 8.96 FLNA MAP1B
4 microtubule associated complex GO:0005875 8.8 DCX MAP1B PAFAH1B1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 hippocampus development GO:0021766 9.58 DCX PAFAH1B1 RELN
2 cochlea development GO:0090102 9.52 DCHS1 PAFAH1B1
3 hippo signaling GO:0035329 9.51 DCHS1 FAT4
4 axon extension GO:0048675 9.49 DCX MAP1B
5 positive regulation of endocytosis GO:0045807 9.48 ARF1 NEDD4L
6 Golgi to plasma membrane transport GO:0006893 9.46 ARF1 ARFGEF2
7 neuron migration GO:0001764 9.46 DCX MAP1B PAFAH1B1 RELN
8 positive regulation of dendritic spine morphogenesis GO:0061003 9.43 PAFAH1B1 RELN
9 ossification involved in bone maturation GO:0043931 9.37 DCHS1 FAT4
10 nephron development GO:0072006 9.32 DCHS1 FAT4
11 condensed mesenchymal cell proliferation GO:0072137 9.26 DCHS1 FAT4
12 cerebral cortex development GO:0021987 9.26 FAT4 FLNA PAFAH1B1 RELN
13 layer formation in cerebral cortex GO:0021819 8.8 DCX PAFAH1B1 RELN

Sources for Periventricular Nodular Heterotopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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