Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P38571 | Lysosomal acid lipase/cholesteryl ester hydrolase |
