Cholesteryl ester storage disease

Orpha code: 75234OMIM code: 278000

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.

Disease data
Classification

Clinical subtype

Synonyms
Cholesterol ester storage disease
Choroba spichrzania estrów cholesterolu
ORPHA code
75234
OMIM code
278000
ICD10 code
E75.5
ICD11 code
-

No additional description.

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