MCID: PRV012
MIFTS: 40

Periventricular Heterotopia malady

Neuronal diseases, Fetal diseases, Genetic diseases categories

Summaries for Periventricular Heterotopia

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Periventricular Heterotopia, also known as periventricular nodular heterotopia, is related to periventricular nodular heterotopia and lissencephaly, and has symptoms including agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect, eeg anomalies and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Periventricular Heterotopia is FLNA (filamin A, alpha), and among its related pathways is Salmonella infection. Affiliated tissues include brain, cortex and fetal brain, and related mouse phenotypes are craniofacial and nervous system.

Description from OMIM:46 300049,608097,608098,612881,615544

Aliases & Classifications for Periventricular Heterotopia

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Sources:
21Genetics Home Reference, 48Orphanet, 60UMLS, 46OMIM, 26ICD10 via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Genetic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
nodular neuronal heterotopia:
Inheritance: Autosomal recessive,X-linked dominant; Age of onset: Variable
periventricular nodular heterotopia:
Inheritance: Autosomal recessive,X-linked dominant


Aliases & Descriptions:

periventricular heterotopia 21
periventricular nodular heterotopia 21 48 60
periventricular heterotopia, x-linked 60
periventricular laminar heterotopia 60
familial nodular heterotopia 21
nodular neuronal heterotopia 48
heterotopia, periventricular 46


External Ids:

ICD10 via Orphanet26 Q04.8
UMLS via Orphanet61 C1868720
MESH via Orphanet35 D054091

Related Diseases for Periventricular Heterotopia

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Periventricular Heterotopia:



Diseases related to periventricular heterotopia

Clinical Features for Periventricular Heterotopia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

300049,608097,608098,612881,615544

Clinical synopsis from OMIM:

300049

Symptoms:

48
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal dominant inheritance

Drugs & Therapeutics for Periventricular Heterotopia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Periventricular Heterotopia

Drug clinical trials:

Search ClinicalTrials for Periventricular Heterotopia

Search NIH Clinical Center for Periventricular Heterotopia

Search CenterWatch for Periventricular Heterotopia

Genetic Tests for Periventricular Heterotopia

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Anatomical Context for Periventricular Heterotopia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Periventricular Heterotopia:

32
Brain, Cortex, Fetal brain

Animal Models for Periventricular Heterotopia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Periventricular Heterotopia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7NAPA, FLNA, FLNB, HESX1
2MP:00036317.4YWHAE, HESX1, ARFGEF2, FLNB, FLNA, NAPA

Publications for Periventricular Heterotopia

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Genetic Variations for Periventricular Heterotopia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Periventricular Heterotopia:

62
id Symbol AA change Variation ID SNP ID
1FLNAp.Leu656PheVAR_012834
2FLNAp.Glu82ValVAR_015699rs28935169
3FLNAp.Met102ValVAR_031305
4FLNAp.Ser149PheVAR_031307
5FLNAp.Val528MetVAR_031309rs143873938

Expression for genes affiliated with Periventricular Heterotopia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Periventricular Heterotopia

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Pathways for genes affiliated with Periventricular Heterotopia

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Sources:
29KEGG
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Pathways related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FLNA, FLNB

Compounds for genes affiliated with Periventricular Heterotopia

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GO Terms for genes affiliated with Periventricular Heterotopia

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Sources:
16Gene Ontology
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Cellular components related to Periventricular Heterotopia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.5YWHAE, FLNA

Products for genes affiliated with Periventricular Heterotopia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Periventricular Heterotopia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet