DISEASES

Disease-gene associations mined from literature

Human genes for COL4A1-related familial vascular leukoencephalopathy

COL4A1-related familial vascular leukoencephalopathy [DOID:0090125]

A brain disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.

Synonyms:  COL4A1-related familial vascular leukoencephalopathy,  COL4A1related familial vascular leukoencephalopathy,  COL4A1-related hereditary vascular leukoencephalopathy,  DOID:0090125,  BSVD ...