lysosomal acid lipase deficiency
MONDO:0800449Mondo
Findings
No curated finding names lysosomal acid lipase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
49 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.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Adrenal calcificationHPOHP:0010512
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Decreased liver functionHPOHP:0001410
- Very frequent (80% to 99% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- Fatal liver failure in infancyHPOHP:0006583
- Very frequent (80% to 99% of cases)
- Hepatic failureHPOHP:0001399
- Very frequent (80% to 99% of cases)
- Hepatic fibrosisHPOHP:0001395
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- HypercholesterolemiaHPOHP:0003124
- Very frequent (80% to 99% of cases)
Show the remaining 37
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- Microvesicular hepatic steatosisHPOHP:0001414
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- SteatorrheaHPOHP:0002570
- Very frequent (80% to 99% of cases)
- Vacuolated lymphocytesHPOHP:0001922
- Very frequent (80% to 99% of cases)
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
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: lysosomal acid lipase deficiency
- Also called
- LAL deficiency