Brain Small Vessel Disease 3 (BSVD3)

Alias:
Bsvd3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brain Small Vessel Disease 3, also known as bsvd3, is related to familial porencephaly and aortic valve prolapse. An important gene associated with Brain Small Vessel Disease 3 is COLGALT1 (Collagen Beta(1-O)Galactosyltransferase 1), and among its related pathways/superpathways are Pleural mesothelioma and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain, and related phenotypes are cerebral calcification and leukoencephalopathy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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3
28
1

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
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No data available

Disease Model

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

References Literature

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