COL4A1-related familial vascular leukoencephalopathy

Details about this human disease

Synonyms (9)

brain small vessel disease with or without ocular anomalies, autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy, brain small vessel disease with hemorrhage, COL4A1-related brain small vessel disease with hemorrhage, BSVD, infantile hemiparesis, brain small vessel disease with Axenfeld-Riegar anomaly, leukoencephalopathy with Axenfeld-Riegar anomaly, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome


Definitions (1)

A brain disease characterized by autosomal dominant inheritance of 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 heterozygous mutation in the COL4A1 gene on chromosome 13q34.


OBO taxonomy browser


Human Disease Hierarchy

Related items

Powered by
(v.1.11.master)
Copyright © 2008 - 2020 The University of Manchester and HITS gGmbH
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig