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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Wolman disease
Summary
- Synonym
-
- Acid esterase deficiency
- Acid lipase deficiency
- Wolman xanthomatosis
- Wolman's disease
- Wolman's or triglyceride storage type III disease
- Xanthomatosis, familial
- acute infantile lysosomal acid lipase deficiency
- complete LAL deficiency
- complete LIPA deficiency
- complete cholesterol ester hydrolase deficiency
- complete lysosomal acid lipase deficiency
- Definition
- A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.
- Super Class
- lysosomal acid lipase deficiency
External Links
- Disease Ontology
- DOID:14497
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6441 | SFTPD | surfactant protein D | |
| 6515 | SLC2A3 | solute carrier family 2 member 3 | |
| 8435 | SOAT2 | sterol O-acyltransferase 2 | |
| 8513 | LIPF | lipase F, gastric type | |
| 9415 | FADS2 | fatty acid desaturase 2 | |
| 79153 | GDPD3 | glycerophosphodiester phosphodiesterase domain containing 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase | |
| P48449 | Lanosterol synthase | |
| P54803 | Galactocerebrosidase | |
| Q13231 | Chitotriosidase-1 | |
| Q13510 | Acid ceramidase | |
| Q7L5L3 | Lysophospholipase D GDPD3 |
