IEMbase 0302: LIPA-related Lysosomal acid lipase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 302 |
| Nosology | 20.6.03.01 |
| Gene | LIPA |
| External IDs | OMIM:278000; ORPHA:275761 |
| Generated mapping | MAPPED; Cholesteryl_Ester_Storage_Disease.yaml |
| Candidate DisMech targets | Wolman_Disease.yaml; Cholesteryl_Ester_Storage_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents the lysosomal acid lipase deficiency spectrum and names both Wolman disease and cholesteryl ester storage disease. Inheritance is autosomal recessive and treatability is unknown in the cached record.
Clinical rows combine infantile and later-onset spectrum features: adrenal calcification, anemia, severe atherosclerosis, hepatosplenomegaly, thrombocytopenia, abdominal distension, developmental delay, failure to thrive, hemophagocytosis, hepatocellular carcinoma/hepatoblastoma, pulmonary hypertension, spiculated red cells, steatorrhea, and vomiting. Biochemical rows show markedly decreased acid lipase activity in neonatal/infantile rows and decreased activity later, plus normal-to-increased serum cholesterol and triglyceride.
DisMech phenotype coverage
The generated CESD mapping is valid for the later-onset portion of the IEMbase
record but incomplete for the full label. Local DisMech has separate entries for
the main LIPA spectrum ends: Wolman_Disease.yaml and
Cholesteryl_Ester_Storage_Disease.yaml.
Wolman_Disease.yaml models rapidly progressive infantile LAL deficiency with
severe loss of LIPA activity, cholesteryl ester and triglyceride storage,
hepatic/reticuloendothelial lipid storage, intestinal lipid storage,
malabsorption, adrenal cortical lipid storage, failure to thrive,
hepatosplenomegaly, hepatic failure, diarrhea, vomiting, malabsorption, adrenal
calcification, anemia, reduced LAL activity, storage burden, elevated hepatic
transaminases, sebelipase alfa, and nutritional management. Cholesteryl_Ester_Storage_Disease.yaml
models the milder later-onset LAL deficiency phenotype with residual activity,
hepatomegaly, splenomegaly, elevated transaminases, dyslipidemia, hepatic
steatosis, hepatic fibrosis/cirrhosis, atherogenic dyslipidemia, LIPA variants,
and sebelipase alfa.
Concordance and completeness
Judgement: split the IEMbase spectrum record across Wolman_Disease.yaml and
Cholesteryl_Ester_Storage_Disease.yaml; do not treat the generated CESD
mapping as complete.
IEMbase and DisMech agree on LIPA identity, recessive inheritance, low acid lipase activity, neutral-lipid storage, hepatosplenomegaly, infantile failure to thrive/vomiting/adrenal calcification/anemia, and later-onset dyslipidemia with serum cholesterol/triglyceride abnormalities. DisMech is richer for mechanism, the Wolman-versus-CESD split, hepatic failure and malabsorption, enzyme replacement, and dietary management.
IEMbase adds review prompts for thrombocytopenia, abdominal distension, developmental delay, hemophagocytosis, hepatocellular carcinoma or hepatoblastoma, pulmonary hypertension, spiculated red cells, steatorrhea, and severe atherosclerosis. These should be placed carefully by phenotype end of the LIPA spectrum if imported.
Curation actions
- Treat IEMbase 302 as a spectrum record spanning
Wolman_Disease.yamlandCholesteryl_Ester_Storage_Disease.yaml. - Add subtype-specific placement notes if future mapping infrastructure can represent both LIPA spectrum endpoints.
- Review IEMbase-only hematologic, cancer, pulmonary-hypertension, red-cell, steatorrhea, abdominal-distension, and atherosclerosis rows before import.