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
Displaying entries 1 - 10 of 18 in total
Gene ID Gene Symbol Description Source
427 ASAH1 N-acylsphingosine amidohydrolase 1
847 CAT catalase
1056 CEL carboxyl ester lipase
1118 CHIT1 chitinase 1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2581 GALC galactosylceramidase
2629 GBA1 glucosylceramidase beta 1
3988 LIPA lipase A, lysosomal acid type
4023 LPL lipoprotein lipase
4047 LSS lanosterol synthase
Displaying 1 entry
Gene ID Gene Symbol Description Source
16889 Lipa lysosomal acid lipase A

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Last updated: August 19, 2024