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Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Disease definition

A rare sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.

ORPHA:209902

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Semi-dominant 
  • Age of onset: Adult
  • ICD-10: E78.0
  • OMIM: -
  • UMLS: C4751204
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2018) Español (2023) Français (2023) Nederlands (2023) Polski ()

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.