Brain Small Vessel Disease 2 (BSVD2)

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OMIM 56 614483 OMIM Phenotypic Series 56 PS175780 MeSH 43 D001927

MedGen 41 C3280970 SNOMED-CT via HPO 68 128613002 1386000 221360009 224958001 246545002 263681008 313307000 397790002 50582007 84757009 91175000 more

OMIM : ⁵⁶ Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780). (614483)

MalaCards based summary : Brain Small Vessel Disease 2, is also known as porencephaly 2, and has symptoms including seizures, hemiplegia and muscle spasticity. An important gene associated with Brain Small Vessel Disease 2 is COL4A2 (Collagen Type IV Alpha 2 Chain). Affiliated tissues include brain, and related phenotypes are global developmental delay and spasticity

UniProtKB/Swiss-Prot : ⁷³ Brain small vessel disease 2: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures.

Clinical features from OMIM:

614483

Search Clinical Trials , NIH Clinical Center for Brain Small Vessel Disease 2

Search GEO for disease gene expression data for Brain Small Vessel Disease 2.