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brain small vessel disease 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brain small vessel disease 4

MONDO:0979873

Overview

GeneticsAutosomal recessive

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: Mild intellectual disability, Difficulty with thinking and memory (cognitive impairment), Hemiparesis, and Basal ganglia cysts and others; and very common findings: Slowness of movement (bradykinesia), Dysarthria, and Syncope. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	17	Stroke, Mild intellectual disability, Slowness of movement (bradykinesia)

Diagnosis

Biomarker and diagnostic research for brain small vessel disease 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features, 3 very common 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 4.

200 publications have been identified in PubMed for brain small vessel disease 4. Research spans Epidemiology / Natural History (35%), Diagnostic / Biomarker (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	63	35%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621313

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 4

Overview

Clinical Presentation

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 4

Overview

Clinical Presentation

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.