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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 |
|---|---|---|
| P04040 | Catalase | |
| P07098 | Gastric triacylglycerol lipase | |
| P13591 | Neural cell adhesion molecule 1 | |
| P19835 | Bile salt-activated lipase | |
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase | |
| Q13231 | Chitotriosidase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002017 | Nausea and vomiting |
| HP:0001510 | Growth delay |
| HP:0003124 | Hypercholesterolemia |
| HP:0001263 | Global developmental delay |
| HP:0002240 | Hepatomegaly |
| HP:0004395 | Malnutrition |
| HP:0001903 | Anemia |
| HP:0000952 | Jaundice |
| HP:0002040 | Esophageal varix |
| HP:0004326 | Cachexia |
