MCID: PRV002
MIFTS: 43

Periventricular Nodular Heterotopia malady

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

Aliases & Classifications for Periventricular Nodular Heterotopia

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

Aliases & Descriptions for Periventricular Nodular Heterotopia:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

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

Summaries for Periventricular Nodular Heterotopia

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NIH Rare Diseases:45 Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. some cases are caused by changes (mutations) in the flna gene and are inherited in an x-linked dominant manner. others are caused by mutations in the arfgef2 gene and are inherited in an autosomal recessive manner. rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. treatment is generally focused on managing recurrent seizures with medications. last updated: 10/6/2015

MalaCards based summary: Periventricular Nodular Heterotopia, also known as periventricular heterotopia, is related to periventricular nodular heterotopia 6 and flna-related periventricular nodular heterotopia. An important gene associated with Periventricular Nodular Heterotopia is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2), and among its related pathways are Reelin signaling pathway and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include brain, fetal brain and cortex, and related mouse phenotypes are respiratory system and growth/size/body region.

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

Genetics Home Reference:23 Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.

Related Diseases for Periventricular Nodular Heterotopia

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Diseases in the Periventricular Nodular Heterotopia family:

Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 3
Periventricular Nodular Heterotopia 5 Flna-Related Periventricular Nodular Heterotopia

Diseases related to Periventricular Nodular Heterotopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1periventricular nodular heterotopia 612.9
2flna-related periventricular nodular heterotopia12.8
3periventricular nodular heterotopia 312.7
4periventricular nodular heterotopia 512.7
5periventricular heterotopia with microcephaly12.3
6heterotopia, periventricular12.2
7paroxysmal nocturnal hemoglobinuria11.9
8heterotopia, periventricular, ed variant11.8
9van maldergem syndrome 210.8
10van maldergem syndrome 110.8
11paroxysmal nocturnal hemoglobinuria, somatic10.6
12breast cancer10.5
13leukemia10.5
14hepatitis10.4
15lymphoma10.4
16acute generalized exanthematous pustulosis10.4DCHS1, FLNA
17renal agenesis, unilateral10.3DCHS1, FAT4
18uv-sensitive syndrome10.3DCHS1, FAT4
19familial atrial fibrillation10.3FLNA, FLNB
20colorectal cancer10.3
21whim syndrome10.3
22asthma10.3
23cerebrotendinous xanthomatosis10.3
24obesity10.3
25renal cell carcinoma10.3
26leprosy10.3
27alzheimer disease10.3
28autoimmune lymphoproliferative syndrome10.3
29otitis media10.3
30insulin-like growth factor i10.3
31meier-gorlin syndrome 310.3
32mulibrey nanism10.3
33drug addiction10.3
34duchenne muscular dystrophy10.3
35adult t-cell leukemia10.3
36nephrolithiasis10.3
37aphasia10.3
38anosognosia10.3
39gallbladder disease10.3
40constrictive pericarditis10.3
41suppurative otitis media10.3
42hypertrophic cardiomyopathy10.3
43nephrocalcinosis10.3
44kwashiorkor10.3
45herpes gestationis10.3
46prostatitis10.3
47cholera10.3
48pericarditis10.3
49melanoma10.3
50leiomyosarcoma10.3

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



Diseases related to periventricular nodular heterotopia

Symptoms for Periventricular Nodular Heterotopia

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Drugs & Therapeutics for Periventricular Nodular Heterotopia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epilepsy Phenome/Genome ProjectActive, not recruitingNCT00552045

Search NIH Clinical Center for Periventricular Nodular Heterotopia


Cochrane evidence based reviews: periventricular nodular heterotopia

Genetic Tests for Periventricular Nodular Heterotopia

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Genetic tests related to Periventricular Nodular Heterotopia:

id Genetic test Affiliating Genes
1 Periventricular Nodular Heterotopia22

Anatomical Context for Periventricular Nodular Heterotopia

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MalaCards organs/tissues related to Periventricular Nodular Heterotopia:

33
Brain, Fetal brain, Cortex, Prostate, Breast, Endothelial, Testes

Animal Models for Periventricular Nodular Heterotopia or affiliated genes

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MGI Mouse Phenotypes related to Periventricular Nodular Heterotopia:

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

Publications for Periventricular Nodular Heterotopia

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Articles related to Periventricular Nodular Heterotopia:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Intra-abdominal synovial sarcoma. (27198201)
2016
2
Thermodynamic analysis of unusually thermostable CutA1 protein from human brain and its protease susceptibility. (25344844)
2015
3
Complex I and complex III inhibition specifically increase cytosolic hydrogen peroxide levels without inducing oxidative stress in HEK293 cells. (26516986)
2015
4
Shear stress modulates endothelial KLF2 through activation of P2X4. (25563726)
2015
5
Leukostasis in Children and Adolescents with Chronic Myeloid Leukemia: Japanese Pediatric Leukemia/Lymphoma Study Group. (26485422)
2015
6
Prevalence of peripheral vascular disease and its association with carotid intima-media thickness and arterial stiffness in type 2 diabetes: the Chennai Urban Rural Epidemiology Study (CURES 111). (24627461)
2014
7
Cytopathologic, histopathologic, and immunohistochemical features of intrahepatic clear cell bile duct adenoma: a case report and review of the literature. (24955270)
2014
8
Bacterial Vaginosis and the Risk of Trichomonas vaginalis Acquisition Among HIV-1-Negative Women. (24413493)
2014
9
Molecular markers of therapeutic resistance in breast cancer. (23434145)
2013
10
Lactococcus garvieae peritoneal dialysis peritonitis. (23349199)
2013
11
Optimization of choline administration regimen for correction of cognitive functions in rats after brain injury. (24130988)
2013
12
Characteristics of modern Gleason 9/10 prostate adenocarcinoma: a single tertiary centre experience within the Republic of Ireland. (24129893)
2013
13
MicroRNA-16 targets amyloid precursor protein to potentially modulate Alzheimer's-associated pathogenesis in SAMP8 mice. (20619502)
2012
14
The role of hypothyroidism in male infertility and erectile dysfunction. (22395839)
2012
15
Utilizing environmental, socioeconomic data and GIS techniques to estimate the risk for ascariasis and trichuriasis in Minas Gerais, Brazil. (22041638)
2012
16
Investigating the refolding pathway of human acidic fibroblast growth factor (hFGF-1) from the residual structure(s) obtained by denatured-state hydrogen/deuterium exchange. (21190667)
2011
17
Human immunodeficiency virus type 1 induces lytic cycle replication of Kaposi's-sarcoma-associated herpesvirus: role of Ras/c-Raf/MEK1/2, PI3K/AKT, and NF-I_B signaling pathways. (21763505)
2011
18
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. (21808859)
2011
19
Renin-angiotensin system activation in congenital hepatic fibrosis in the PCK rat model of autosomal recessive polycystic kidney disease. (20400910)
2010
20
Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia. (20667979)
2010
21
Is there a role for Crohn's disease-associated autophagy genes ATG16L1 and IRGM in formation of granulomas? (20395867)
2010
22
Fatal clostridial necrotising myofasciitis (gas gangrene) following femoral nerve block. (21114743)
2010
23
Estimates of risk, empirical treatment observations, and unexpected laboratory findings reveal the complexity of nephrogenic systemic fibrosis. (19841408)
2009
24
Relationship between the expression of hypoxia-inducible factor-1alpha and chemotherapy response in gastric carcinoma]. (19742344)
2009
25
Pyoderma vegetans in a renal transplant recipient: first case of human infection with Nocardia vinacea. (19543072)
2009
26
Clinical experience of using oxytocin antagonist atosiban in the rescue therapy of preterm labour]. (18683742)
2008
27
Aripiprazole effects on psychosis and chorea in a patient with Huntington's disease. (18765501)
2008
28
Botulinum toxin in the treatment of orofacial tardive dyskinesia: a single blind study. (18022743)
2008
29
Immunological evidence supporting the use of extracts from Boehmeria jamaicensis Urb for treating the common cold and sinus infections. (18646490)
2007
30
Histological changes after implantation of autologous bone marrow mononuclear cells for chronic critical limb ischemia. (17384655)
2007
31
Measurement of DPD and TS transcripts aimed to predict clinical benefit from fluoropyrimidines: confirmation of the trend in Russian colorectal cancer series and caution regarding the gene referees. (17551252)
2007
32
Endothelial and epithelial expression of eotaxin-2 (CCL24) in nasal polyps. (16682802)
2006
33
Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. (14972453)
2004
34
Expression of focal adhesion kinase and phosphorylated focal adhesion kinase in squamous cell carcinoma of the larynx. (14603053)
2003
35
The role of heme oxygenase-1 in pulmonary fibrosis. (14503562)
2003
36
Arsenic trioxide cytotoxicity in steroid and chemotherapy-resistant myeloma cell lines: enhancement of apoptosis by manipulation of cellular redox state. (11839678)
2002
37
ATP-Sensitive potassium channels: a review of their cardioprotective pharmacology. (10756123)
2000
38
CODE (cisplatin, vincristine, doxorubicin, etoposide) plus granulocyte colony-stimulating factor in advanced non-small-cell lung cancer: a Hoosier Oncology Group phase II trial. (9626802)
1998
39
Proliferating cell nuclear antigen (PCNA) in ovarian carcinoma and its relation to lymph node metastasis and prognosis]. (10921065)
1998
40
X-ray structures of human neutrophil collagenase complexed with peptide hydroxamate and peptide thiol inhibitors. Implications for substrate binding and rational drug design. (7737183)
1995
41
Atherosclerosis and thrombosis. Old and new drugs. (15374255)
1995
42
Diabetic embryopathy. (7951674)
1994
43
The oligodendrocyte-myelin glycoprotein of mouse: primary structure and gene structure. (8244377)
1993
44
The Fc-recognizing, collagen-like C1q molecule is a putative type II membrane protein of macrophages. (8172565)
1993
45
Transient global amnesia: characterization of anterograde and retrograde amnesia. (3340282)
1988
46
Investigation of the physical properties of dog intestinal microvillar membrane proteins by polyacrylamide gel electrophoresis: a comparison between normal dogs and dogs with exocrine pancreatic insufficiency. (3401488)
1988
47
Anosognosia in aphasics. (2440639)
1987
48
Startle disease, or hyperekplexia. (6486743)
1984
49
Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. (6770287)
1980
50

Variations for Periventricular Nodular Heterotopia

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Expression for genes affiliated with Periventricular Nodular Heterotopia

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

Pathways for genes affiliated with Periventricular Nodular Heterotopia

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

idSuper pathwaysScoreTop Affiliating Genes
110.0PAFAH1B1, RELN
29.8DCX, PAFAH1B1, RELN
3
Show member pathways
9.4FLNA, FLNB, TUBA3E

GO Terms for genes affiliated with Periventricular Nodular Heterotopia

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

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

Sources for Periventricular Nodular Heterotopia

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