Wolman disease
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.
MONDO:0800449
lysosomal acid lipase deficiency
is_a
Wolman disease with hypolipoproteinemia and acanthocytosis
exact
Wolman's disease
exact
familial xanthomatosis
related
liposomal acid lipase deficiency, Wolman type
related
lysosomal acid lipase deficiency
broad
SPBC14C8.15 SPBC16A3.12c SPCC1672.09