Overview
Cholesterol ester storage disease is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acute liver failure
Always present (100%)HP:0006554
Alanine aminotransferase increased
Always present (100%)HP:0031964
Decreased HDL cholesterol concentration
Always present (100%)HP:0003233
Disseminated intravascular coagulation
Always present (100%)HP:0005521
Fatty liver
Always present (100%)HP:0001397
Hepatosplenomegaly
Always present (100%)HP:0001433
Hypersplenism
Always present (100%)HP:0001971
Hypoadrenalism
Always present (100%)HP:0000846
Increased hepatic echogenicity
Always present (100%)HP:0031141
Increased plasma LDL levels
Always present (100%)HP:0003141
Leukopenia
Always present (100%)HP:0001882
Low number of red blood cells or hemoglobin
Always present (100%)HP:0001903
Portal hypertension
Always present (100%)HP:0001409
Reduced lysosomal acid lipase activity
Always present (100%)HP:0031205
Thrombocytopenia
Always present (100%)HP:0001873
Undergrowth
Always present (100%)HP:0001508
Elevated serum aspartate aminotransferase
Very frequent (80-99%)HP:0031956
Enlarged liver
Very frequent (80-99%)HP:0002240
Diarrhea
Frequent (30-79%)HP:0002014
Elevated serum cholesterol
Frequent (30-79%)HP:0003124
Hardened artery wall
Frequent (30-79%)HP:0002634
Hepatic insufficiency
Frequent (30-79%)HP:0001399
Increased triglycerides
Frequent (30-79%)HP:0002155
Large spleen
Frequent (30-79%)HP:0001744
Liver fibrosis
Frequent (30-79%)HP:0001395
Nausea and vomiting
Frequent (30-79%)HP:0002017
Abdominal protuberance
Occasional (5-29%)HP:0001538
Adrenal calcification
Occasional (5-29%)HP:0010512
Cirrhosis
Occasional (5-29%)HP:0001394
Decreased circulating alkaline phosphatase activity
Occasional (5-29%)HP:0003282
Related Conditions
Quick Facts
- SNOMED CT
- 57218003
- UMLS CUI
- C0008384
- Fully Specified Name
- Cholesterol ester storage disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.