familial lipase maturation factor 1 deficiency (DOID:0111422)
Alliance: disease page
Synonyms: combined lipase deficiency; familial LMF1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency
Alt IDs: OMIM:246650, ORDO:535453
Definition: A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3.