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brain small vessel disease 3 (BSVD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brain small vessel disease 3

MONDO:0100105

Also known as:BSVD3

Overview

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.

GeneticsAutosomal recessive · COLGALT1 (chr 19)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Leukoencephalopathy and Cerebral calcification; and common findings: Brain shrinkage (cerebral atrophy), Spastic tetraplegia, Seizure, and Porencephalic cyst and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Brain shrinkage (cerebral atrophy), Spastic tetraplegia, Seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COLGALT1 encodes collagen beta(1-O)galactosyltransferase 1 (622 aa). Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen. By acting on collagen glycosylation, facilitates the formation of collagen triple helix. Highest expression in Cells Cultured fibroblasts (176.4 TPM) and Spleen (130.7 TPM).

Brain small vessel disease 3 has been associated with mutations in the COLGALT1 gene on chromosome 19.

The COLGALT1 protein participates in COLGALT1,COLGALT2:Galactosyl-hydroxylysyl collagen propeptides, COLGALT1,COLGALT2:Lysyl hydroxylated collagen propeptides, and COLGALT1,COLGALT2:Galactosyl-hydroxylysyl collagen propeptides dissociates pathways.

COLGALT1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for COLGALT1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for brain small vessel disease 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 8 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for brain small vessel disease 3.

202 publications have been identified in PubMed for brain small vessel disease 3. Kisho has analyzed 115 by research type. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	40	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618360

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

brain small vessel disease 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication.

Cerebral small vessel disease burden relates to cognitive decline via impaired amyloid clearance in the general population.

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

brain small vessel disease 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication.

Cerebral small vessel disease burden relates to cognitive decline via impaired amyloid clearance in the general population.

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.