Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal discomfort
Very frequent (80-99%)HP:0002027
Abdominal swelling
Very frequent (80-99%)HP:0003270
Adrenal calcification
Very frequent (80-99%)HP:0010512
Cognitive deficits
Very frequent (80-99%)HP:0100543
Elevated alkaline phosphatase
Very frequent (80-99%)HP:0003155
Elevated liver enzymes
Very frequent (80-99%)HP:0002910
Elevated total cholesterol
Very frequent (80-99%)HP:0003124
Enlarged lysosomal vacuoles in lymphocytes
Very frequent (80-99%)HP:0001922
Fat in feces
Very frequent (80-99%)HP:0002570
Fatal liver failure in infancy
Very frequent (80-99%)HP:0006583
Hepatic failure
Very frequent (80-99%)HP:0001399
Hepatopathy
Very frequent (80-99%)HP:0001410
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Increased triglycerides
Very frequent (80-99%)HP:0002155
Liver fibrosis
Very frequent (80-99%)HP:0001395
Microvesicular steatosis
Very frequent (80-99%)HP:0001414
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Xanthomatosis
Very frequent (80-99%)HP:0000991
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Cerebral vascular events
Frequent (30-79%)HP:0001297
Diarrhea
Frequent (30-79%)HP:0002014
Esophageal varix
Frequent (30-79%)HP:0002040
Plaque build-up in arteries supplying blood to heart
Frequent (30-79%)HP:0001677
Premature atherosclerosis
Frequent (30-79%)HP:0004416
Weight loss
Frequent (30-79%)HP:0001824
Xanthelasma of periocular region
Frequent (30-79%)HP:0001114
Abnormal urine potassium concentration
Occasional (5-29%)HP:0012598
Acidosis
Occasional (5-29%)HP:0001941
Adrenocortical insufficiency
Occasional (5-29%)HP:0008207
Cachexia
Occasional (5-29%)HP:0004326
Quick Facts
- SNOMED CT
- 715923003
- UMLS CUI
- C5574740
- Fully Specified Name
- Lysosomal acid lipase deficiency (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.