MCID: PRV002
MIFTS: 43

Periventricular Nodular Heterotopia

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

Aliases & Classifications for Periventricular Nodular Heterotopia

MalaCards integrated aliases for Periventricular Nodular Heterotopia:

Name: Periventricular Nodular Heterotopia 12 53 25 59 37 29 55 44 15 73
Periventricular Heterotopia 12 53 25 29 6
Periventricular Heterotopia, X-Linked 73
Familial Nodular Heterotopia 25

Characteristics:

Orphanet epidemiological data:

59
periventricular nodular heterotopia
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050454
MeSH 44 D054091
SNOMED-CT 68 448227009
Orphanet 59 ORPHA98892
MESH via Orphanet 45 D054091
UMLS via Orphanet 74 C1868720
ICD10 via Orphanet 34 Q04.8
KEGG 37 H00270

Summaries for Periventricular Nodular Heterotopia

NIH Rare Diseases : 53 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 nervous system and respiratory system

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.

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

Related Diseases for Periventricular Nodular Heterotopia

Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 6
Periventricular Nodular Heterotopia 7 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 66)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 35.3 FLNA LOC105373386
2 van maldergem syndrome 1 33.2 DCHS1 FAT4
3 melnick-needles syndrome 31.2 FLNA LOC105373386
4 frontometaphyseal dysplasia 31.0 FLNA LOC105373386
5 neuronal migration disorders 30.3 DCX PAFAH1B1 RELN
6 lissencephaly 29.5 DCX PAFAH1B1 RELN TMTC3
7 flna-related periventricular nodular heterotopia 12.7
8 periventricular nodular heterotopia 6 12.6
9 periventricular nodular heterotopia 7 12.6
10 periventricular heterotopia with microcephaly, autosomal recessive 12.1
11 heterotopia, periventricular, associated with chromosome 5p anomalies 11.5
12 chromosome 5q14.3 deletion syndrome, distal 11.5
13 van maldergem syndrome 2 11.4
14 primary optic atrophy 10.8 ELN FLNA
15 renal hypoplasia 10.6 DCHS1 FAT4
16 epilepsy 10.6
17 boomerang dysplasia 10.6 FLNA FLNB
18 van maldergem syndrome 10.6 DCHS1 FAT4
19 chromosome 17p13.3, centromeric, duplication syndrome 10.6 DCX PAFAH1B1
20 atelosteogenesis 10.4 FLNA FLNB
21 lissencephaly, x-linked, 1 10.4 DCX PAFAH1B1
22 polymicrogyria 10.4
23 band heterotopia 10.1 DCX PAFAH1B1
24 alacrima, achalasia, and mental retardation syndrome 10.1
25 hydrocephalus 10.1
26 ehlers-danlos syndrome 10.1
27 cerebritis 10.1
28 neuronitis 10.1
29 megalencephaly 10.1
30 hennekam syndrome 10.1 DCHS1 FAT4
31 pseudobulbar palsy 10.1 ARFGEF2 SIX3 SRPX2
32 lissencephaly with cerebellar hypoplasia 10.1 DCX PAFAH1B1 RELN
33 lissencephaly 1 10.0 DCX PAFAH1B1 RELN
34 cleft palate, isolated 10.0
35 frontonasal dysplasia 1 10.0
36 jacobsen syndrome 10.0
37 kbg syndrome 10.0
38 smith-magenis syndrome 10.0
39 williams-beuren syndrome 10.0
40 cerebellar hypoplasia 10.0
41 multiple pterygium syndrome, escobar variant 10.0
42 cortical dysplasia, complex, with other brain malformations 7 10.0
43 chromosome 15q11.2 deletion syndrome 10.0
44 west syndrome 10.0
45 craniosynostosis 10.0
46 temporal lobe epilepsy 10.0
47 left ventricular noncompaction 10.0
48 hemiplegia 10.0
49 arachnoiditis 10.0
50 tuberous sclerosis 10.0

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



Diseases related to Periventricular Nodular Heterotopia

Symptoms & Phenotypes for Periventricular Nodular Heterotopia

MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 PAFAH1B1 RELN SIX3 ARFGEF2 CALB2 DCHS1
2 respiratory system MP:0005388 9.17 DCHS1 FAT4 FLNA FLNB NEDD4L SIX3

Drugs & Therapeutics for Periventricular Nodular Heterotopia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epilepsy Phenome/Genome Project Unknown status 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:

41
Brain, Fetal Brain, Cortex, Temporal Lobe, Lung

Publications for Periventricular Nodular Heterotopia

Articles related to Periventricular Nodular Heterotopia:

(show top 50) (show all 121)
# Title Authors Year
1
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. ( 29738522 )
2018
2
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia. ( 29449050 )
2018
3
Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation. ( 29062687 )
2018
4
Bilateral periventricular nodular heterotopia (BPNH) detected on fetal and maternal MRI, caused by a novel Filamin A mutation. ( 29266454 )
2017
5
Region-specific connectivity in patients with periventricular nodular heterotopia and epilepsy: A study combining diffusion tensor imaging and functional MRI. ( 28850831 )
2017
6
Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations. ( 28411558 )
2017
7
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. ( 28515470 )
2017
8
Filamin A Gene Associated Periventricular Nodular Heterotopia and Epilepsy in a Cohort of Chinese Patients. ( 29052574 )
2017
9
Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals. ( 28158406 )
2017
10
Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies. ( 28880999 )
2017
11
Perilesional and contralateral white matter evolution and integrity in patients with periventricular nodular heterotopia and epilepsy: a longitudinal diffusion tensor imaging study. ( 28872216 )
2017
12
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. ( 27787898 )
2017
13
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. ( 28973161 )
2017
14
Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging. ( 26990213 )
2016
15
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
16
Intracranial evaluation and laser ablation for epilepsy with periventricular nodular heterotopia. ( 27461957 )
2016
17
Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication. ( 27386127 )
2016
18
Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. ( 27355897 )
2016
19
A Novel Mutation of Filamin A Gene in a Chinese Family with Periventricular Nodular Heterotopia. ( 27625105 )
2016
20
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. ( 27694961 )
2016
21
Is 15q11.2 microdeletion associated with periventricular nodular heterotopia? ( 26241618 )
2015
22
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. ( 25475607 )
2015
23
Concurrent neurodegenerative pathologies in periventricular nodular heterotopia. ( 26458987 )
2015
24
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
25
Graves' hyperthyroidism-induced psychosis in a patient with periventricular nodular heterotopia. ( 25918012 )
2015
26
47 patients with FLNA associated periventricular nodular heterotopia. ( 26471271 )
2015
27
Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. ( 25524841 )
2015
28
Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices. ( 25752321 )
2015
29
Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. ( 26340046 )
2015
30
Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation. ( 25160555 )
2014
31
Stereotactic laser ablation of epileptogenic periventricular nodular heterotopia. ( 24518890 )
2014
32
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014
33
B-92Posterior Periventricular Nodular Heterotopia: An Unusual Case. ( 25176842 )
2014
34
Chiari type 1 malformation and periventricular nodular heterotopia in a 6-year-old boy with congenital hemiplegia: a case report. ( 23266946 )
2014
35
Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria. ( 25052774 )
2014
36
Periventricular nodular heterotopia, frontonasal encephalocele, corpus callosal dysgenesis and arachnoid cyst: A constellation of abnormalities in a child with epilepsy. ( 25624936 )
2014
37
Germline mosaicism in X-linked periventricular nodular heterotopia. ( 24906659 )
2014
38
Periventricular nodular heterotopia in Smith-Magenis syndrome. ( 25257626 )
2014
39
Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. ( 23151899 )
2013
40
Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities. ( 23348762 )
2013
41
Bilateral Periventricular Nodular Heterotopia With Megalencephaly: A Case Report. ( 23439715 )
2013
42
Automated morphometric magnetic resonance imaging analysis for the detection of periventricular nodular heterotopia. ( 23330738 )
2013
43
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia. ( 23636902 )
2013
44
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia. ( 24196422 )
2013
45
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI. ( 23064591 )
2013
46
Periventricular nodular heterotopia functionally couples with the overlying hippocampus. ( 22642616 )
2012
47
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. ( 22076441 )
2012
48
Successful treatment of epilepsy by resection of periventricular nodular heterotopia. ( 23254583 )
2012
49
Chronic headaches due to periventricular nodular heterotopia causing obstructive hydrocephalus. ( 23571663 )
2012
50
Deletion of filamin A in two female patients with periventricular nodular heterotopia. ( 22522697 )
2012

Variations for Periventricular Nodular Heterotopia

ClinVar genetic disease variations for Periventricular Nodular Heterotopia:

6
(show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARFGEF2 NM_006420.2(ARFGEF2): c.1888G> A (p.Val630Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146772848 GRCh38 Chromosome 20, 48976129: 48976129
2 ARFGEF2 NM_006420.2(ARFGEF2): c.1888G> A (p.Val630Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146772848 GRCh37 Chromosome 20, 47592666: 47592666
3 ARFGEF2 NM_006420.2(ARFGEF2): c.2253A> G (p.Ala751=) single nucleotide variant Uncertain significance rs770578384 GRCh38 Chromosome 20, 48985590: 48985590
4 ARFGEF2 NM_006420.2(ARFGEF2): c.2253A> G (p.Ala751=) single nucleotide variant Uncertain significance rs770578384 GRCh37 Chromosome 20, 47602127: 47602127
5 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> T (p.Ser1059=) single nucleotide variant Uncertain significance rs61748373 GRCh37 Chromosome 20, 47612375: 47612375
6 ARFGEF2 NM_006420.2(ARFGEF2): c.3177G> T (p.Ser1059=) single nucleotide variant Uncertain significance rs61748373 GRCh38 Chromosome 20, 48995838: 48995838
7 ARFGEF2 NM_006420.2(ARFGEF2): c.4332G> A (p.Ala1444=) single nucleotide variant Uncertain significance rs201206379 GRCh37 Chromosome 20, 47633802: 47633802
8 ARFGEF2 NM_006420.2(ARFGEF2): c.4332G> A (p.Ala1444=) single nucleotide variant Uncertain significance rs201206379 GRCh38 Chromosome 20, 49017265: 49017265
9 ARFGEF2 NM_006420.2(ARFGEF2): c.1585A> G (p.Ile529Val) single nucleotide variant Uncertain significance rs770424682 GRCh38 Chromosome 20, 48973204: 48973204
10 ARFGEF2 NM_006420.2(ARFGEF2): c.1585A> G (p.Ile529Val) single nucleotide variant Uncertain significance rs770424682 GRCh37 Chromosome 20, 47589741: 47589741
11 ARFGEF2 NM_006420.2(ARFGEF2): c.2286_2288delGTT (p.Phe763del) deletion Uncertain significance rs886056755 GRCh38 Chromosome 20, 48988313: 48988315
12 ARFGEF2 NM_006420.2(ARFGEF2): c.2286_2288delGTT (p.Phe763del) deletion Uncertain significance rs886056755 GRCh37 Chromosome 20, 47604850: 47604852
13 ARFGEF2 NM_006420.2(ARFGEF2): c.2658C> T (p.His886=) single nucleotide variant Uncertain significance rs201685748 GRCh38 Chromosome 20, 48989409: 48989409
14 ARFGEF2 NM_006420.2(ARFGEF2): c.2658C> T (p.His886=) single nucleotide variant Uncertain significance rs201685748 GRCh37 Chromosome 20, 47605946: 47605946
15 ARFGEF2 NM_006420.2(ARFGEF2): c.3046G> C (p.Gly1016Arg) single nucleotide variant Uncertain significance rs149644732 GRCh38 Chromosome 20, 48994523: 48994523
16 ARFGEF2 NM_006420.2(ARFGEF2): c.3046G> C (p.Gly1016Arg) single nucleotide variant Uncertain significance rs149644732 GRCh37 Chromosome 20, 47611060: 47611060
17 ARFGEF2 NM_006420.2(ARFGEF2): c.3900C> T (p.Tyr1300=) single nucleotide variant Uncertain significance rs142138231 GRCh37 Chromosome 20, 47628603: 47628603
18 ARFGEF2 NM_006420.2(ARFGEF2): c.3900C> T (p.Tyr1300=) single nucleotide variant Uncertain significance rs142138231 GRCh38 Chromosome 20, 49012066: 49012066
19 ARFGEF2 NM_006420.2(ARFGEF2): c.4315+5T> G single nucleotide variant Uncertain significance rs753508291 GRCh37 Chromosome 20, 47632957: 47632957
20 ARFGEF2 NM_006420.2(ARFGEF2): c.4315+5T> G single nucleotide variant Uncertain significance rs753508291 GRCh38 Chromosome 20, 49016420: 49016420
21 ARFGEF2 NM_006420.2(ARFGEF2): c.4316-12T> C single nucleotide variant Uncertain significance rs573635235 GRCh37 Chromosome 20, 47633774: 47633774
22 ARFGEF2 NM_006420.2(ARFGEF2): c.4316-12T> C single nucleotide variant Uncertain significance rs573635235 GRCh38 Chromosome 20, 49017237: 49017237
23 ARFGEF2 NM_006420.2(ARFGEF2): c.4373A> G (p.Asn1458Ser) single nucleotide variant Uncertain significance rs886056757 GRCh37 Chromosome 20, 47633843: 47633843
24 ARFGEF2 NM_006420.2(ARFGEF2): c.4373A> G (p.Asn1458Ser) single nucleotide variant Uncertain significance rs886056757 GRCh38 Chromosome 20, 49017306: 49017306
25 ARFGEF2 NM_006420.2(ARFGEF2): c.4480A> G (p.Met1494Val) single nucleotide variant Uncertain significance rs200763159 GRCh37 Chromosome 20, 47634058: 47634058
26 ARFGEF2 NM_006420.2(ARFGEF2): c.4480A> G (p.Met1494Val) single nucleotide variant Uncertain significance rs200763159 GRCh38 Chromosome 20, 49017521: 49017521
27 ARFGEF2 NM_006420.2(ARFGEF2): c.4526G> A (p.Arg1509His) single nucleotide variant Uncertain significance rs774033935 GRCh37 Chromosome 20, 47635437: 47635437
28 ARFGEF2 NM_006420.2(ARFGEF2): c.4526G> A (p.Arg1509His) single nucleotide variant Uncertain significance rs774033935 GRCh38 Chromosome 20, 49018900: 49018900
29 ARFGEF2 NM_006420.2(ARFGEF2): c.5117G> A (p.Arg1706Gln) single nucleotide variant Uncertain significance rs201225495 GRCh37 Chromosome 20, 47648639: 47648639
30 ARFGEF2 NM_006420.2(ARFGEF2): c.5117G> A (p.Arg1706Gln) single nucleotide variant Uncertain significance rs201225495 GRCh38 Chromosome 20, 49032102: 49032102
31 ARFGEF2 NM_006420.2(ARFGEF2): c.*70C> T single nucleotide variant Uncertain significance rs373799127 GRCh37 Chromosome 20, 47649806: 47649806
32 ARFGEF2 NM_006420.2(ARFGEF2): c.*70C> T single nucleotide variant Uncertain significance rs373799127 GRCh38 Chromosome 20, 49033269: 49033269
33 ARFGEF2 NM_006420.2(ARFGEF2): c.*134C> T single nucleotide variant Uncertain significance rs886056759 GRCh37 Chromosome 20, 47649870: 47649870
34 ARFGEF2 NM_006420.2(ARFGEF2): c.*134C> T single nucleotide variant Uncertain significance rs886056759 GRCh38 Chromosome 20, 49033333: 49033333
35 ARFGEF2 NM_006420.2(ARFGEF2): c.*237A> G single nucleotide variant Likely benign rs3752257 GRCh37 Chromosome 20, 47649973: 47649973
36 ARFGEF2 NM_006420.2(ARFGEF2): c.*237A> G single nucleotide variant Likely benign rs3752257 GRCh38 Chromosome 20, 49033436: 49033436
37 ARFGEF2 NM_006420.2(ARFGEF2): c.*368A> G single nucleotide variant Uncertain significance rs78721163 GRCh37 Chromosome 20, 47650104: 47650104
38 ARFGEF2 NM_006420.2(ARFGEF2): c.*368A> G single nucleotide variant Uncertain significance rs78721163 GRCh38 Chromosome 20, 49033567: 49033567
39 ARFGEF2 NM_006420.2(ARFGEF2): c.*503G> A single nucleotide variant Uncertain significance rs372740919 GRCh37 Chromosome 20, 47650239: 47650239
40 ARFGEF2 NM_006420.2(ARFGEF2): c.*503G> A single nucleotide variant Uncertain significance rs372740919 GRCh38 Chromosome 20, 49033702: 49033702
41 ARFGEF2 NM_006420.2(ARFGEF2): c.*819C> T single nucleotide variant Uncertain significance rs779640545 GRCh37 Chromosome 20, 47650555: 47650555
42 ARFGEF2 NM_006420.2(ARFGEF2): c.*819C> T single nucleotide variant Uncertain significance rs779640545 GRCh38 Chromosome 20, 49034018: 49034018
43 ARFGEF2 NM_006420.2(ARFGEF2): c.*1564G> A single nucleotide variant Uncertain significance rs886056764 GRCh38 Chromosome 20, 49034763: 49034763
44 ARFGEF2 NM_006420.2(ARFGEF2): c.*1564G> A single nucleotide variant Uncertain significance rs886056764 GRCh37 Chromosome 20, 47651300: 47651300
45 ARFGEF2 NM_006420.2(ARFGEF2): c.*1789A> G single nucleotide variant Uncertain significance rs886056766 GRCh38 Chromosome 20, 49034988: 49034988
46 ARFGEF2 NM_006420.2(ARFGEF2): c.*1789A> G single nucleotide variant Uncertain significance rs886056766 GRCh37 Chromosome 20, 47651525: 47651525
47 ARFGEF2 NM_006420.2(ARFGEF2): c.*1846C> T single nucleotide variant Uncertain significance rs754078836 GRCh38 Chromosome 20, 49035045: 49035045
48 ARFGEF2 NM_006420.2(ARFGEF2): c.*1846C> T single nucleotide variant Uncertain significance rs754078836 GRCh37 Chromosome 20, 47651582: 47651582
49 ARFGEF2 NM_006420.2(ARFGEF2): c.*1969G> A single nucleotide variant Uncertain significance rs144237181 GRCh38 Chromosome 20, 49035168: 49035168
50 ARFGEF2 NM_006420.2(ARFGEF2): c.*1969G> A single nucleotide variant Uncertain significance rs144237181 GRCh37 Chromosome 20, 47651705: 47651705

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 11.75 DCX FLNA FLNB PAFAH1B1
2 10.72 DCHS1 FAT4
3 10.62 PAFAH1B1 RELN
4 10.29 DCX 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 cell cortex GO:0005938 8.8 FLNA FLNB PAFAH1B1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.71 DCX PAFAH1B1 RELN SIX3
2 neuron migration GO:0001764 9.61 DCX PAFAH1B1 RELN
3 hippocampus development GO:0021766 9.54 DCX PAFAH1B1 RELN
4 hippo signaling GO:0035329 9.49 DCHS1 FAT4
5 cochlea development GO:0090102 9.48 DCHS1 PAFAH1B1
6 positive regulation of dendritic spine morphogenesis GO:0061003 9.46 PAFAH1B1 RELN
7 nephron development GO:0072006 9.32 DCHS1 FAT4
8 ossification involved in bone maturation GO:0043931 9.26 DCHS1 FAT4
9 cerebral cortex development GO:0021987 9.26 FAT4 FLNA PAFAH1B1 RELN
10 condensed mesenchymal cell proliferation GO:0072137 9.16 DCHS1 FAT4
11 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....