Details of Disease | DrugMAP

General Information of Disease (ID: DISUOEMC)

Disease Name	Brain small vessel disease 3
Synonyms	BSVD3
Definition	An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.
Disease Hierarchy	DISTLT56: Familial porencephaly DISUOEMC: Brain small vessel disease 3
Disease Identifiers	MONDO ID MONDO_0100105 UMLS CUI C5193053 OMIM ID 618360 MedGen ID 1677948

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COLGALT1	OTVG0P58	Strong	Autosomal recessive	[1]
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References

1	Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30.