Search Ontology:
Human Disease

Wolman disease

Term ID
DOID:14497
Synonyms
  • Acid esterase deficiency
  • Acid lipase deficiency
  • acute infantile lysosomal acid lipase deficiency
  • complete cholesterol ester hydrolase deficiency
  • complete LAL deficiency
  • complete LIPA deficiency
  • complete lysosomal acid lipase deficiency
  • Wolman xanthomatosis
  • Wolman's disease
  • Wolman's or triglyceride storage type III disease
  • Xanthomatosis, familial
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. (2)
References
  • GARD:7899
  • ICD10CM:E75.5
  • MESH:D015223
  • MIM:620151
  • NCI:C61271
  • ORDO:75233
  • SNOMEDCT_US_2023_03_01:82500001
  • UMLS_CUI:C0043208
Ontology
Human Disease   ( DOID:14497 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models