PVNH
MCID: PRV002
MIFTS: 52

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 20 43 58 36 29 54 6 44 15 70
Periventricular Heterotopia 12 20 43 29 6
Pvnh 20 58
Periventricular Heterotopia, X-Linked 70
Familial Nodular Heterotopia 43
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 44 D054091
SNOMED-CT 67 448227009 816068000
MESH via Orphanet 45 D054091
ICD10 via Orphanet 33 Q04.8
UMLS via Orphanet 71 C1868720
Orphanet 58 ORPHA98892
UMLS 70 C1848213 C1868720

Summaries for Periventricular Nodular Heterotopia

MedlinePlus Genetics : 43 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 flna-related periventricular nodular heterotopia. An important gene associated with Periventricular Nodular Heterotopia is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2), 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.

GARD : 20 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 Periventricular Nodular Heterotopia 9
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 157)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 1 33.7 LOC107988032 FLNA
2 flna-related periventricular nodular heterotopia 33.5 LOC107988032 FLNA
3 van maldergem syndrome 2 32.9 FAT4 DCHS1
4 van maldergem syndrome 1 32.6 FAT4 DCHS1
5 epilepsy 31.6 RELN PVALB PCDH19 FLNA DCX CALB2
6 west syndrome 31.5 PVALB PCDH19 PAFAH1B1 FLNA ARFGEF2
7 nodular neuronal heterotopia 31.4 LOC107988032 FLNA ERMARD ARFGEF2
8 frontometaphyseal dysplasia 31.3 LOC107988032 FLNB FLNA
9 melnick-needles syndrome 31.3 LOC107988032 FLNB FLNA
10 neuronal migration disorders 31.2 RELN PAFAH1B1 DCX
11 cerebellar hypoplasia 31.2 RELN PAFAH1B1 FLNA DCX
12 lissencephaly 31.2 TMTC3 RELN PAFAH1B1 MAP1B DCX
13 otopalatodigital syndrome, type ii 30.9 LOC107988032 FLNB FLNA
14 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 30.9 LOC107988032 FLNA
15 fg syndrome 2 30.9 LOC107988032 FLNA
16 lissencephaly 1 30.9 RELN PAFAH1B1 DCX
17 miller-dieker lissencephaly syndrome 30.9 RELN PAFAH1B1 FLNA DCX ARFGEF2
18 dyslexia 30.9 RELN NEDD4L FLNA DCX
19 pachygyria 30.9 PAFAH1B1 DCX
20 lissencephaly, x-linked, 1 30.7 PAFAH1B1 DCX
21 band heterotopia 30.6 RELN PAFAH1B1 MAP1B FLNA ERMARD DCX
22 frontometaphyseal dysplasia 1 30.6 LOC107988032 FLNA
23 periventricular nodular heterotopia 9 11.9
24 periventricular nodular heterotopia 7 11.9
25 periventricular nodular heterotopia 8 11.9
26 periventricular nodular heterotopia 6 11.9
27 periventricular heterotopia with microcephaly, autosomal recessive 11.8
28 chromosome 5q14.3 deletion syndrome, distal 11.6
29 periventricular nodular heterotopia 3 11.5
30 ritscher-schinzel syndrome 3 11.3
31 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.7
32 polymicrogyria 10.7
33 alacrima, achalasia, and mental retardation syndrome 10.6
34 seizure disorder 10.6
35 otopalatodigital syndrome, type i 10.6 FLNB FLNA
36 van maldergem syndrome 10.5 FAT4 ERMARD DCHS1
37 lissencephaly with cerebellar hypoplasia 10.5 RELN PAFAH1B1 DCX
38 polymicrogyria with optic nerve hypoplasia 10.5 PAFAH1B1 DCX
39 cortical dysplasia, complex, with other brain malformations 10 10.5
40 congenital nervous system abnormality 10.5 RELN PAFAH1B1 FLNA DCX ARFGEF2
41 terminal osseous dysplasia 10.5 LOC107988032 FLNA
42 physical disorder 10.5 RELN PAFAH1B1 FLNA DCX ARFGEF2
43 status epilepticus 10.5 PVALB PCDH19 CALB2
44 orthostatic intolerance 10.5 FLNA ELN DCHS1
45 hypomelanosis of ito 10.5 PAFAH1B1 ARFGEF2
46 cleft palate, isolated 10.5
47 chromosome 2q35 duplication syndrome 10.5
48 focal epilepsy 10.5
49 boomerang dysplasia 10.5 FLNB FLNA
50 chromosome 17p13.3, centromeric, duplication syndrome 10.5 PAFAH1B1 DCX

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 17)
# 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 hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100790
4 pyloric stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002021
5 abnormal bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0001892
6 abnormal heart valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001654
7 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
8 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
9 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
10 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
11 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
12 periventricular heterotopia 58 31 frequent (33%) Frequent (79-30%) 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%)

MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

46
# 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 9.44 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, Heart, Temporal Lobe, Eye, Lung

Publications for Periventricular Nodular Heterotopia

Articles related to Periventricular Nodular Heterotopia:

(show top 50) (show all 428)
# Title Authors PMID Year
1
MAP1B mutations cause intellectual disability and extensive white matter deficit. 6
30150678 2018
2
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. 61 54
19917821 2009
3
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. 61 54
19289478 2009
4
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. 54 61
18996916 2009
5
Like father, like son: periventricular nodular heterotopia and nonverbal learning disorder. 61 54
18660478 2008
6
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
7
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation. 61 54
18384621 2008
8
Bilateral periventricular nodular heterotopia with amniotic band syndrome. 54 61
17560504 2007
9
MEKK4 signaling regulates filamin expression and neuronal migration. 61 54
17145501 2006
10
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 54 61
16684786 2006
11
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 61 54
16299064 2006
12
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 61 54
15994863 2006
13
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. 54 61
16417552 2006
14
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. 61 54
16320251 2006
15
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 61 54
15668422 2005
16
BIG1 and BIG2, brefeldin A-inhibited guanine nucleotide-exchange factors for ADP-ribosylation factors. 61 54
16413268 2005
17
Functional disomy resulting from duplications of distal Xq in four unrelated patients. 61 54
15338277 2004
18
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. 54 61
15459826 2004
19
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 54 61
15249610 2004
20
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. 61 54
14988809 2004
21
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 61 54
14647276 2004
22
Presence of filamin in the astrocytic inclusions of Aicardi syndrome. 61 54
14738943 2004
23
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 61 54
12612583 2003
24
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. 54 61
12393796 2002
25
Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 54 61
11914408 2002
26
Periventricular heterotopia may result from radial glial fiber disruption. 54 61
11556542 2001
27
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. 61 54
11100490 2000
28
Filamin is required for ring canal assembly and actin organization during Drosophila oogenesis. 54 61
10477759 1999
29
Cranial ultrasonographic screening findings among healthy neonates and their association with neurodevelopmental outcomes. 61
33214065 2021
30
Epilepsy phenotypes associated with MAP1B-related brain malformations. 61
33772511 2021
31
Three Different FDG Patterns in Periventricular Nodular Heterotopia Correlated to Video Stereoelectroencephalography. 61
33661202 2021
32
Neural functional connectivity in patients with periventricular nodular heterotopia-mediated epilepsy. 61
33454660 2021
33
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia. 61
33639934 2021
34
Incomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis. 61
33325054 2021
35
Widespread cortical dyslamination in epilepsy patients with malformations of cortical development. 61
32975591 2021
36
Speech, Language and Oromotor Skills in Patients with Polymicrogyria. 61
33589534 2021
37
Radiological and Clinical Value of 7T MRI for Evaluating 3T-Visible Lesions in Pharmacoresistant Focal Epilepsies. 61
33737901 2021
38
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. 61
33298907 2020
39
Preoperative evaluation of dynamic contrast-enhanced MRI-guided lesion identification using morphometric and textural analysis for patients with epilepsy. 61
32973947 2020
40
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report. 61
32973946 2020
41
The spectrum of brain malformations and disruptions in twins. 61
33205886 2020
42
Whole-brain multimodal MRI phenotyping of periventricular nodular heterotopia. 61
32817185 2020
43
Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia. 61
33123826 2020
44
Hippocampal deep brain stimulation: a therapeutic option in patients with extensive bilateral periventricular nodular heterotopia: a case report. 61
33063672 2020
45
Neuronal migration and disorders - an update. 61
33096394 2020
46
Tensor-valued diffusion MRI differentiates cortex and white matter in malformations of cortical development associated with epilepsy. 61
32667688 2020
47
Periventricular nodular heterotopia in a Chihuahua. 61
32445227 2020
48
Laser Interstitial Thermal Therapy for Epileptogenic Periventricular Nodular Heterotopia. 61
32272272 2020
49
Genetic generalized epilepsies with frontal lesions mimicking migratory disorders on the epilepsy monitoring unit. 61
32524043 2020
50
X-linked Bilateral Periventricular Nodular Heterotopia. 61
32405614 2020

Variations for Periventricular Nodular Heterotopia

ClinVar genetic disease variations for Periventricular Nodular Heterotopia:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARFGEF2 NM_006420.3(ARFGEF2):c.4455-1G>A SNV Likely pathogenic 977323 GRCh37: 20:47634032-47634032
GRCh38: 20:49017495-49017495
2 MAP1B NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) SNV Likely pathogenic 548632 rs1554054831 GRCh37: 5:71490089-71490089
GRCh38: 5:72194262-72194262
3 MAP1B NM_005909.5(MAP1B):c.1594C>T (p.Gln532Ter) SNV Likely pathogenic 548633 rs1554054880 GRCh37: 5:71490776-71490776
GRCh38: 5:72194949-72194949
4 MAP1B NM_005909.5(MAP1B):c.819del (p.Leu274fs) Deletion Likely pathogenic 548635 rs1554054827 GRCh37: 5:71490000-71490000
GRCh38: 5:72194173-72194173
5 MAP1B NM_005909.5(MAP1B):c.2134del (p.Glu712fs) Deletion risk factor 800720 rs1561314246 GRCh37: 5:71491315-71491315
GRCh38: 5:72195488-72195488
6 MAP1B NM_005909.5(MAP1B):c.3094G>T (p.Glu1032Ter) SNV risk factor 800721 rs1561315170 GRCh37: 5:71492276-71492276
GRCh38: 5:72196449-72196449
7 MAP1B NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) SNV risk factor 800722 rs1580026238 GRCh37: 5:71494172-71494172
GRCh38: 5:72198345-72198345
8 MAP1B NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) SNV Likely pathogenic 548634 rs1554055106 GRCh37: 5:71492498-71492498
GRCh38: 5:72196671-72196671
9 ARFGEF2 NM_006420.3(ARFGEF2):c.5117G>A (p.Arg1706Gln) SNV Uncertain significance 338707 rs201225495 GRCh37: 20:47648639-47648639
GRCh38: 20:49032102-49032102
10 ARFGEF2 NM_006420.3(ARFGEF2):c.2286_2288del (p.Phe763del) Deletion Uncertain significance 338692 rs886056755 GRCh37: 20:47604849-47604851
GRCh38: 20:48988312-48988314
11 BAG6 NM_080703.3(BAG6):c.3307C>T (p.Arg1103Ter) SNV Uncertain significance 632584 rs1281308977 GRCh37: 6:31606982-31606982
GRCh38: 6:31639205-31639205
12 ARFGEF2 NM_006420.3(ARFGEF2):c.*2805_*2806dup Duplication Uncertain significance 338742 rs397957165 GRCh37: 20:47652530-47652531
GRCh38: 20:49035993-49035994
13 ARFGEF2 NM_006420.3(ARFGEF2):c.*2806del Deletion Uncertain significance 338743 rs397957165 GRCh37: 20:47652531-47652531
GRCh38: 20:49035994-49035994
14 ARFGEF2 NM_006420.3(ARFGEF2):c.*2805_*2807del Deletion Uncertain significance 338744 rs547552436 GRCh37: 20:47652541-47652543
GRCh38: 20:49036004-49036006
15 ARFGEF2 NM_006420.3(ARFGEF2):c.*2806dup Duplication Likely benign 338741 rs397957165 GRCh37: 20:47652530-47652531
GRCh38: 20:49035993-49035994

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 ENSG00000205622 periventricular nodular heterotopia
3 158165 21 30500000 46944323 Microdeletion BRWD1 periventricular nodular heterotopia
4 158168 21 30500000 46944323 Microdeletion LINC00114 periventricular nodular heterotopia
5 158171 21 30500000 46944323 Microdeletion DSCR10 periventricular nodular heterotopia
6 158174 21 30500000 46944323 Microdeletion VPS26C periventricular nodular heterotopia
7 158177 21 30500000 46944323 Microdeletion DSCR4 periventricular nodular heterotopia
8 158180 21 30500000 46944323 Microdeletion RIPPLY3 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.01 RELN PAFAH1B1 FLNB ERMARD DCX DCHS1
2 brain development GO:0007420 9.8 RELN PCDH19 PAFAH1B1 DCX
3 hippocampus development GO:0021766 9.61 RELN PAFAH1B1 DCX
4 heart morphogenesis GO:0003007 9.54 FLNA FAT4 DCHS1
5 positive regulation of endocytosis GO:0045807 9.52 NEDD4L ARF1
6 positive regulation of dendritic spine morphogenesis GO:0061003 9.51 RELN PAFAH1B1
7 nephron development GO:0072006 9.48 FAT4 DCHS1
8 reelin-mediated signaling pathway GO:0038026 9.46 RELN PAFAH1B1
9 neuron migration GO:0001764 9.46 RELN PAFAH1B1 MAP1B DCX
10 cochlea development GO:0090102 9.43 PVALB PAFAH1B1 DCHS1
11 ossification involved in bone maturation GO:0043931 9.4 FAT4 DCHS1
12 condensed mesenchymal cell proliferation GO:0072137 9.32 FAT4 DCHS1
13 cerebral cortex development GO:0021987 9.26 RELN PAFAH1B1 FLNA FAT4
14 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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