Brain Small Vessel Disease 1 (BSVD1)

Brain Small Vessel Disease 1(来自ICD-11)

别称:

Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

Col4a1-Related Brain Small Vessel Disease with Hemorrhage

Col4a1-Related Familial Vascular Leukoencephalopathy

Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukencephalopathy

Brain Small Vessel Disease with or Without Ocular Anomalies

Brain Small Vessel Disease with Axenfeld-Riegar Anomaly

Leukoencephalopathy with Axenfeld-Riegar Anomaly

Brain Small Vessel Disease with Hemorrhage

Infantile Hemiparesis

Bsvd1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Brain Small Vessel Disease 1, also known as col4a1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome, is related to brain small vessel disease 3 and brain small vessel disease 2. An important gene associated with Brain Small Vessel Disease 1 is COL4A1 (Collagen Type IV Alpha 1 Chain), and among its related pathways/superpathways are Extracellular matrix organization and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include brain and fetal brain, and related phenotypes are muscle and respiratory system

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