ORPHA:209902
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Semi-dominant
- Typical age of onset
- Adult
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:209902 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Cholestasis
- Hepatic steatosis
- Macrovesicular hepatic steatosis
- Hypertriglyceridemia
- Hypercholesterolemia
- Increased LDL cholesterol concentration