Brain Small Vessel Disease 2 (BSVD2)

Alias:
Porencephaly 2
Bsvd2
Gould Syndrome 2
Brain Small Vessel Disease, Type 2 ;porencephaly Type 2
Porencephaly 2, Formerly
Poren2, Formerly
Poren2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brain Small Vessel Disease 2, also known as porencephaly 2, is related to familial porencephaly and aortic valve prolapse, and has symptoms including hemiplegia, muscle spasticity and seizures. An important gene associated with Brain Small Vessel Disease 2 is COL4A2 (Collagen Type IV Alpha 2 Chain), and among its related pathways/superpathways are Cell adhesion_ECM remodeling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include brain, and related phenotypes are global developmental delay and spastic tetraplegia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
66
10

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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