CYP7B1-related disorder of oxysterol accumulation
MONDO:1060107Mondo
Findings
No curated finding names CYP7B1-related disorder of oxysterol accumulation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:1060107), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP7B1HGNC:2652
- Definitive · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)