hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ORPHA: 209902
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency, sourced from HPO and Orphanet clinical annotations.
CholestasisHepatic steatosisMacrovesicular hepatic steatosisHypertriglyceridemiaHypercholesterolemiaIncreased LDL cholesterol concentrationAcute hepatic steatosisCholesterol gallstonesHepatitisObesityCoronary artery atherosclerosisAccelerated atherosclerosisAbnormal circulating vitamin A concentrationAortic atherosclerotic lesionAbnormal circulating vitamin E concentration
Classification & Codes
Orphanet Code
ORPHA:209902hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
| Orphanet | ORPHA:209902 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO