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Cholesteryl ester storage disease

Disease definition

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.


  • 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


Additional information

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