LIPA across dismech

LIPA (lipase A, lysosomal acid type) is named by 3 disorder entries: Wolman Disease; Cholesteryl Ester Storage Disease; and Tuberculosis.

Normal function

The ai-gene-review ingest layer does not yet carry a LIPA review, so it returns 0 core-function terms. A full LIPA review (lysosomal sterol ester esterase and triacylglycerol lipase activities) is being added upstream.

Causative record

Wolman Disease types LIPA as causative with a germline variant origin. LIPA sits on 2 of its nodes, including Lysosomal Acid Lipase Deficiency. The KB annotates LIPA nodes with lipid catabolic process; triglyceride catabolic process; and neutral lipid catabolic process. Nodes naming LIPA conform to the module lysosomal_substrate_accumulation.

Gaps

ClinGen classifies LIPA for 1 disease, and the ClinGen disease with no matched dismech entry is lysosomal acid lipase deficiency: the classification is for the whole lysosomal acid lipase deficiency spectrum, while dismech splits it into Wolman disease and cholesteryl ester storage disease. Cholesteryl Ester Storage Disease types LIPA as causative too, without a ClinGen tier, because the ClinGen classification is for the umbrella deficiency rather than this entry's disease term.