Periventricular Nodular Heterotopia (PVNH)

Alias:
Periventricular Heterotopia
Pvnh
Periventricular Heterotopia, X-Linked
Familial Nodular Heterotopia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Periventricular Nodular Heterotopia, also known as periventricular heterotopia, is related to periventricular nodular heterotopia 9 and van maldergem syndrome 2. An important gene associated with Periventricular Nodular Heterotopia is FLNA (Filamin A), and among its related pathways/superpathways are Cytoskeletal Signaling and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include brain and fetal brain, and related phenotypes are scoliosis and gastroesophageal reflux
Related ID:
MESH:D054091

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AR
AD
XL
Child
--
87
733
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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