FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lysosomal acid lipase deficiency ID (Ontology) DOID:0080217 (Human Disease)
Definition A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.
Also Known As "LAL deficiency" ; "LAL-D"
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autosomal genetic disease
 |__autosomal recessive disease__
lysosomal storage disease        |
 |__lipid storage disease________|
                                 lysosomal acid lipase deficiency  21 rec.
                                  |__cholesterol ester storage disease 21 rec.
                                  |__Wolman disease 21 rec.
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Is a autosomal recessive disease
lipid storage disease
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Synonyms
  • "LAL deficiency" EXACT
    "LAL-D" EXACT OMO:0003012
Secondary IDs
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GARD:12097
ICD10CM:E75.5
MIM:PS278000
ORDO:275761
UMLS_CUI:C5574740