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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
lysosomal acid lipase deficiency
Summary
- Synonym
-
- LAL deficiency
- LAL-D
- 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.
- Super Class
- autosomal recessive disease lipid storage disease
External Links
- Disease Ontology
- DOID:0080217
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001538 | Protuberant abdomen |
| HP:0001873 | Thrombocytopenia |
| HP:0001882 | Leukopenia |
| HP:0001971 | Hypersplenism |
| HP:0002013 | Vomiting |
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0003282 | Low alkaline phosphatase |
