CYP7B1-related disorder of oxysterol accumulation

MONDO:1060107

Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.

Also known as: CYP7B1-related disorder of oxysterol accumulation

2 clinical trials for this condition and its sub-types, 0 tagged with CYP7B1-related disorder of oxysterol accumulation itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Inherited lipid metabolism disorder (644)

Sub-types of CYP7B1-related disorder of oxysterol accumulation

Hereditary spastic paraplegia 5A 2 trials
Congenital bile acid synthesis defect 3 0 trials

Including sub-types (2) Tagged with CYP7B1-related disorder of oxysterol accumulation (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.