familial lipase maturation factor 1 deficiency

Term ID

DOID:0111422

Synonyms

• combined lipase deficiency
• familial LMF1 deficiency
• lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
• LPL and HL deficiency
• LPL and HTGL deficiency

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. (2)

References

• OMIM:246650
• ORDO:535453

Ontology

Human Disease   ( DOID:0111422 )