| Metadata | |
|---|---|
| ID | DOID:0090125 |
| Name | brain small vessel disease 1 |
| Definition | A brain small vessel 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://www.omim.org/entry/175780, https://ghr.nlm.nih.gov/condition/familial-porencephaly |
| Xrefs | |
| Subsets |
DO_rare_slim |
| 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] BSVD1 [EXACT] COL4A1-related brain small vessel disease with hemorrhage [EXACT] COL4A1-related familial vascular leukoencephalopathy [EXACT] COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome [EXACT] infantile hemiparesis [EXACT] leukoencephalopathy with Axenfeld-Riegar anomaly [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |