Familial Porencephaly

Alias:
Autosomal Dominant Porencephaly Type 1
Infantile Hemiplegia with Porencephaly
Porencephaly, Familial
Porencephaly Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Porencephaly, also known as autosomal dominant porencephaly type 1, is related to porencephaly and spastic hemiplegia, and has symptoms including hemiplegia, muscle spasticity and seizures. An important gene associated with Familial Porencephaly is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include brain.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
2
25
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Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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IF
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