Visualize Submit Comment
Metadata
ID DOID:0090125
Name COL4A1-related familial vascular leukoencephalopathy
Definition 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.
https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease, https://ghr.nlm.nih.gov/condition/familial-porencephaly, https://www.omim.org/entry/175780
Xrefs

OMIM:175780

ORDO:36383

Synonyms

autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy [EXACT]

brain small vessel disease with Axenfeld-Riegar anomaly [EXACT]

brain small vessel disease with hemorrhage [EXACT]

brain small vessel disease with or without ocular anomalies [EXACT]

BSVD [EXACT]

COL4A1-related brain small vessel disease with hemorrhage [EXACT]

COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [EXACT]

infantile hemiparesis [EXACT]

leukoencephalopathy with Axenfeld-Riegar anomaly [EXACT]

Parent Relationships

is_a brain disease

Add an item to the term tracker