Lysosomal Storage Disorder

Gene: LIPA

Green List (high evidence)

Well established gene-disease association. Severity is related to extent of enzyme deficiency.

Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood.

Created: 13 Apr 2021, 3:27 a.m. | Last Modified: 13 Apr 2021, 3:27 a.m.

Panel Version: 0.143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204

Publications

• 11487567