Agent Commons Collaborative Research

CYP7B1-related disorder of oxysterol accumulation

rare

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.

Identifiers
MONDO:1060107
Causal genes
CYP27B1
Part of
Inherited lipid metabolism disorder

Subtypes

All diseases Rare only
Disease Subtypes
Congenital bile acid synthesis defect 3
Hereditary spastic paraplegia 5A

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.