CYP7B1-related disorder of oxysterol accumulation is a rare condition where oxysterols, which are oxidized cholesterol byproducts, build up in the body. This buildup occurs due to a defect in the CYP7B1 gene. People with this condition have biallelic loss of function variants in the CYP7B1 gene, meaning that both copies of their gene do not work properly. This disruption affects the normal breakdown of oxysterols, leading to their accumulation and potentially impacting body functions. Information regarding the full range of effects and progression of this condition is limited.

Information about symptoms is currently limited for this condition.

This condition is caused by biallelic loss of function variants in the CYP7B1 gene. In people with this disorder, both copies of the CYP7B1 gene have changes that lead to a reduced ability to process oxysterols, resulting in their abnormal accumulation. Associated genes include CYP7B1.