brain small vessel disease 5 with osteoporosis

Term ID

DOID:0061235

Synonyms

Definition

A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/36929019/

References

• MIM:621331

Ontology

Human Disease   ( DOID:0061235 )