Brain Small Vessel Disease 1 with or Without Ocular Anomalies (BSVD1)

Alias:

Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant

Brain Small Vessel Disease with Axenfeld-Rieger Anomaly

Leukoencephalopathy with Axenfeld-Rieger Anomaly

Brain Small Vessel Disease with Hemorrhage

Gould Syndrome 1

Bsvd1

Brain Small Vessel Disease with or Without Ocular Anomalies

Brain Small Vessel Disease, Type 1 ;porencephaly, Type 1

Porencephaly, Type 1, Autosomal Dominant, Formerly

Hemiplegia, Infantile, with Porencephaly

Hemiplegia Infantile with Porencephaly

Porencephaly Type 1 Autosomal Dominant

Porencephaly, Type 1, Formerly

Porencephaly 1, Formerly

Porencephaly, Familial

Porencephaly Type 1

Poren1, Formerly

Adt1p, Formerly

Porencephaly 1

T1p, Formerly

Poren1

Adt1p

T1p

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Brain Small Vessel Disease 1 with or Without Ocular Anomalies, also known as retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant, is related to col4a1-related brain small-vessel disease and familial porencephaly, and has symptoms including hemiplegia, muscle spasticity and seizures. An important gene associated with Brain Small Vessel Disease 1 with or Without Ocular Anomalies is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include brain and eye, and related phenotypes are corneal opacity and glaucoma

Related ID：

MALACARDS：BRN139

OMIM：175780

MESH：D001927