cholesteryl ester storage disease
Findings
No curated finding names cholesteryl ester storage disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0019149), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute hepatic failureHPOHP:0006554
- 1 of 1 reported patient
- Adrenal insufficiencyHPOHP:0000846
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- Disseminated intravascular coagulationHPOHP:0005521
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentration
Show the remaining 27
- HepatomegalyHPOHP:0002240
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- HypersplenismHPOHP:0001971
- 1 of 1 reported patient
- Increased hepatic echogenicityHPOHP:0031141
- 1 of 1 reported patient
- Portal hypertensionHPOHP:0001409
- 1 of 1 reported patient
- Reduced lysosomal acid lipase activityHPOHP:0031205
- 7 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LIPAHGNC:6617
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: cholesteryl ester storage disease
- Also called
- cholesterol ester hydrolase deficiency, partialcholesterol ester storage diseaseLAL deficiency, partialLIPA deficiency, partiallysosomal acid lipase deficiency, partial