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Wolman disease

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.
Uniprot Description A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.
Mondo Term and Equivalent IDs
MONDO:0019148:  Wolman disease
GARD:0007899: 
MESH:D015223: 
NCIT:C61271: 
Orphanet:75233: 
SCTID:82500001: 
UMLS:C0043208: 
UMLS:CN438428: