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, Adolescent, Adult
ICD-10: E75.5
OMIM: 278000
UMLS: C0008384
MeSH: -
GARD: 12099
MedDRA: -

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Cholesteryl ester storage disease

ORPHA:75234

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