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brain small vessel disease 3
Summary
- Synonym
-
- BSVD3
- Definition
- A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.
- Super Class
- autosomal recessive disease brain small vessel disease
External Links
- Disease Ontology
- DOID:0112315
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NBJ5 | Procollagen galactosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002059 | Cerebral atrophy |
| HP:0002514 | Cerebral calcification |
| HP:0001252 | Hypotonia |
| HP:0010864 | Intellectual disability, severe |
| HP:0002352 | Leukoencephalopathy |
| HP:0001250 | Seizure |
| HP:0002510 | Spastic tetraplegia |
| HP:0001263 | Global developmental delay |
| HP:0003593 | Infantile onset |
