Orphanet: Cholesteryl ester storage disease
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Cholesteryl ester storage disease

Disease definition

A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.

ORPHA:75234

Classification level: Subtype of disorder
  • Synonym(s):
    • Cholesterol ester storage disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.5
  • OMIM: 278000
  • UMLS: C0008384
  • MeSH: -
  • GARD: 12099
  • MedDRA: -

Detailed information

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